SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation P12A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 6 clinical trials

Clinical Trials


1 Gene-diet Interactions

Interactions between genes and environment, i.e. our inherited responses to environmental changes, may be crucial in the development of the common diseases. The investigators were the first to identify PPARG gene as risk gene for type 2 diabetes. The role of the Pro12Ala polymorphism in diabetes risk has also been verified in meta-analysis. However, this effect on seems to depend on intervention and age. In this study the effects of diets high with saturated fatty acids (SAFA) and polyunsaturated fatty acids (PUFA) are compared in subjects carrying either Pro12Pro or Ala12Ala genotype of the PPARG gene. Aim of the study: To test if subjects with Pro12Pro and Ala12Ala genotypes respond differentially to a diet supplemented with high saturated (SAFA) or polyunsaturated fat (PUFA). Hypotheses: 1. Specific: Subjects with the Ala12Ala genotype will be more sensitive to dietary modification, and therefore respond more favorably to PUFA diet 2. More general: Dietary instructions individually tailored according to the genotype would allow better treatment of obesity and diabetes

NCT01274091
Conditions
  1. Insulin Sensitivity
Interventions
  1. Other: PUFA-diet
  2. Other: SAFA-diet
MeSH:Insulin Resistance Hypersensitivity
HPO:Allergy Insulin resistance

The role of the Pro12Ala polymorphism in diabetes risk has also been verified in meta-analysis. --- Pro12Ala ---

Inclusion Criteria: - BMI >20kg/m2 <29kg/m2 - Pro12Pro and Ala12Ala genotypes of PPARG Pro12Ala polymorphism - participation to METSIM-study (METabolic Syndrome in Men, currently >10000 men included from the population living in Kuopio, principal investigator Markku Laakso) - normoglycemia Exclusion Criteria: - type 2 diabetes - other chronic diseases Inclusion Criteria: - BMI >20kg/m2 <29kg/m2 - Pro12Pro and Ala12Ala genotypes of PPARG Pro12Ala polymorphism - participation to METSIM-study (METabolic Syndrome in Men, currently >10000 men included from the population living in Kuopio, principal investigator Markku Laakso) - normoglycemia Exclusion Criteria: - type 2 diabetes - other chronic diseases Insulin Sensitivity Insulin Resistance Hypersensitivity Obesity and type 2 diabetes are increasing in all western countries, including Finland. --- Pro12Ala ---

Inclusion Criteria: - BMI >20kg/m2 <29kg/m2 - Pro12Pro and Ala12Ala genotypes of PPARG Pro12Ala polymorphism - participation to METSIM-study (METabolic Syndrome in Men, currently >10000 men included from the population living in Kuopio, principal investigator Markku Laakso) - normoglycemia Exclusion Criteria: - type 2 diabetes - other chronic diseases Inclusion Criteria: - BMI >20kg/m2 <29kg/m2 - Pro12Pro and Ala12Ala genotypes of PPARG Pro12Ala polymorphism - participation to METSIM-study (METabolic Syndrome in Men, currently >10000 men included from the population living in Kuopio, principal investigator Markku Laakso) - normoglycemia Exclusion Criteria: - type 2 diabetes - other chronic diseases Insulin Sensitivity Insulin Resistance Hypersensitivity Obesity and type 2 diabetes are increasing in all western countries, including Finland. --- Pro12Ala --- --- Pro12Ala ---

The role of the Pro12Ala polymorphism in diabetes risk has also been verified in meta-analysis. --- Pro12Ala ---

Based on these findings the investigators created in collaboration with Johan Auwerx an Pro12Ala animal model that demonstrated a differential effect of dietary fat composition depending on the genotype. --- Pro12Ala ---

However, an important conclusive proof that subjects selected based on their Pro12Ala genotype would respond differently to specifically tailored diet modification is still needed. --- Pro12Ala ---

Primary Outcomes

Description: insulin sensitivity measured by oral glucose tolerance test at the beginning of the first, randomised diet

Measure: insulin sensitivity

Time: week 0

Description: insulin sensitivty measured by oral glucose tolerance test after the first diet

Measure: insulin sensitivity

Time: week 8

Description: Insulin sensitivity measured by oral glucose tolerance test in the beginning of the second, randomised diet

Measure: insulin sensitivity

Time: week 10

Description: insulin sensitivity measured by oral glucose tolerance test after the second diet

Measure: insulin sensitivity

Time: week 18

Secondary Outcomes

Measure: peripheral blood mononuclear cell gene expression

Time: week 8

Measure: peripheral blood mononuclear cell gene expression

Time: week 18

Description: serum lipids, including serum lipidomics and fatty acid composition

Measure: serum lipids

Time: week 8

Description: serum lipids, including serum lipidomics and fatty acid composition

Measure: serum lipids

Time: week 18

Description: inflammation measured as serum cytokines and adipose tissue inflammation

Measure: inflammation

Time: week 8

Description: inflammation measured as serum cytokines and adipose tissue inflammation

Measure: inflammation

Time: week 18

Description: energy expenditure and the rates of substrate oxidation

Measure: energy expenditure

Time: week 8

Description: energy expenditure and the rates of substrate oxidation

Measure: energy expenditure

Time: week 18

Measure: insulin secretion

Time: week 8

Measure: insulin secretion

Time: week 18

Measure: adipose tissue gene expression

Time: week 8

Measure: adipose tissue gene expression

Time: week 18

2 Modulation of Insulin Secretion and Insulin Sensitivity in Bangladeshi Type 2 Diabetic Subjects by an Insulin Sensitizer Pioglitazone and T2DM Association With PPARG Gene Polymorphism.

- The present study was undertaken to assess the efficacy and safety of two different insulin sensitizers (namely Pioglitazone and Metformin) among subjects with type 2 diabetes mellitus (T2DM) in Bangladesh. - A prospective, double-blind, single group, 'within-subject' designed clinical trial of 77 diagnosed T2DM patients out of 130 patients with glycosylated haemoglobin (HbA1c) ≥7.2±1.5%, aged 46±6.4 years and registered for diabetes treatment in Bangladesh Institute of Research and Rehabilitation in Diabetes Endocrine and Metabolic Disorders (BIRDEM) was carried out. - The study was conducted between November 2008 and September 2010. - Baseline data, included case history of the patients,anthropometric measurement, biomedical parameters psychosocial factors, were collected from each subject and then enrolled to receive treatment with 001 drug once daily for three months, then the patients were left for wash out with metformin 850mg once daily for one month; then they received 002 drug once daily for further three months. - Dietary chart was remained as before. - DNA was isolated by Chelex method using the primers and control DNA,restriction Digestion Enzyme Endonuclease Hae 111 for genotyping PPARγ-(Peroxisome Proliferator Activated Receptor gamma)Pro12Pro - (Proline12Proline)/Pro12Ala-(Proline12 Alanine))/Ala12Ala-(Alanine12Alanine). - The blinded drugs were decoded after analyzing results, 001 tablet was pioglitazone (30 mg once daily) and 002 tablets was metformin (850mg once daily). Bio-medical outcomes were measured to assess the efficacy of both the drugs each month. After finishing the treatment period the effects of two drugs were compared using SPSS.And the association between the pioglitazone drug effects and genetic polymorphism was also assessed. - The metformin effects was assessed also using the response rate of HbA1c <7.0% after 3 months treatment to the patients.

NCT01589445
Conditions
  1. Type 2 Diabetes Mellitus
Interventions
  1. Drug: Pioglitazone hydrochloride
  2. Drug: Metformin hydrochloride
MeSH:Diabetes Mellitus Diabetes Mellitus, Type 2
HPO:Diabetes mellitus Type II diabetes mellitus

- DNA was isolated by Chelex method using the primers and control DNA,restriction Digestion Enzyme Endonuclease Hae 111 for genotyping PPARγ-(Peroxisome Proliferator Activated Receptor gamma)Pro12Pro - (Proline12Proline)/Pro12Ala-(Proline12 Alanine))/Ala12Ala-(Alanine12Alanine). - The blinded drugs were decoded after analyzing results, 001 tablet was pioglitazone (30 mg once daily) and 002 tablets was metformin (850mg once daily). --- Pro12Ala ---

We used a published document to select the primers for genotyping PPARγ Pro12Ala/Pro12Pro. --- Pro12Ala ---

The primers for the Pro12Ala SNP genotype, we amplified exon B using the reverse primer 5' CTG GAA GAC AAA CTA CAA GAG 3' and the forward primer 5' ACT CTG GGA GAT TCT CCT ATT GGC 3'. --- Pro12Ala ---

III.Control DNA: Professor Colin Palmer Laboratory, Biomedical Research Institute ,University of Dundee Medical School, University of Dundee, Scotland, UK sent six control samples of 3 types control DNA genotyped for PPARG SNP rs 1801282 (Pro12Ala). --- Pro12Ala ---

5) List of Abbreviations AEs Adverse Events ALT Alanine aminotransferase BMI Body Mass Index BMRC Bangladesh Medical Research Council BIRDEM Bangladesh Institute of Research and Rehabilitation in Diabetes,Endocrine and Metabolic Disorder BP Blood Pressure DNA Deoxynucleic Acid DBP Diastolic Blood Pressure DM Diabetes Mellitus EASD European Association for the Study of Diabetes EDTA Ethylene Diamine Tetra Acetic acid ELISA Enzyme Linked Immunosorbent Assay FBG/FSG Fasting Blood Glucose/Fasting Serum Glucose FSI Fasting Serum Insulin 2hBG 2 hours Blood Glucose HbA1c Glycosylated Haemoglobin HOMA percent B Homeostasis Model Assessment percentage of beta cell function HOMA percent S Homeostasis Model Assessment percentage of sensitivity HOMA IR Homeostasis Model Assessment Insulin Resistance HDL-C High Density Lipid Cholesterol IU/L International Unit/Litre LDL-C Low Density Lipid Cholesterol ml millilitre mm millimetre mg/dl milligram/ decilitre MLR Multiple Logistic Regression OPD Outdoor Patient Department OMIM Online Mendelian Inheritance in Man OR Odds Ratio PPARγ Peroxisome Proliferator Activated Receptor gamma Pro12Pro Proline12Proline Pro12Ala Proline 12 Alanine Ala12Ala Alanine12Alanine PCR Polymerase Chain Reaction QUICKI Quantitative Insulin sensitivity Check Index SD Standard Deviation SPSS Statistical Package for Social Science SBP Systolic Blood Pressure TC Total Cholesterol TG Triglyceride T2DM Type 2 Diabetes Mellitus TZD Thiazolidinedione µl Microliter WHO World Health Organization --- Pro12Ala ---

Primary Outcomes

Description: Response rate was defined by ≥10% decrease of FSG or/and ≥1% decrease of HbA1c from the baseline values after 3 months treatment.48 responded to pioglitazone and 32 responded to metformin.

Measure: Comparison of Changes in Fasting Serum Glucose (FSG)With Pioglitazone and Metformin

Time: 3 months for each drug

Description: Response rate was defined by ≥10% decrease of FSG or/and ≥1% decrease of HbA1c from the baseline values after 3 months treatment.48 responded to pioglitazone and 32 responded to metformin.

Measure: Comparison of Changes in Glycosylated Hemoglobin (HbA1c)With Pioglitazone and Metformin

Time: 3 months for each drug

Description: Response rate was defined by ≥10% decrease of FSG or/and ≥1% decrease of HbA1c from the baseline values after 3 months treatment.48 responded to pioglitazone and 32 responded to metformin. Analysis 1: Homeostasis Model Assessment Insulin Resistance(HOMA IR) Analysis 2: Quantitative Insulin sensitivity Check Index(QUICKI)

Measure: Comparison of Changes in Insulin Levels (HOMA IR,QUICKI) With Pioglitazone and Metformin

Time: 3 months for each drug

Description: Response rate was defined by ≥10% decrease of FSG or/and ≥1% decrease of HbA1c from the baseline values after 3 months treatment.48 responded to pioglitazone and 32 responded to metformin. Analysis 1: Homeostatic Model Assessment of Beta cell function(HOMA percent B) Analysis 2: Homeostatic Model Assessment of Insulin Sensitivity (Homa percent S)

Measure: Comparison of Changes in HOMA Percent B and HOMA Percent S With Pioglitazone and Metformin

Time: 3 months for each drug

Description: Response rate was defined by ≥10% decrease of FSG or/and ≥1% decrease of HbA1c from the baseline values after 3 months treatment.48 responded to pioglitazone and 32 responded to metformin.

Measure: Comparison of Changes in Fasting Serum Insulin (FSI)With Pioglitazone and Metformin

Time: 3 months for each drug

Secondary Outcomes

Description: Response rate was defined by ≥10% decrease of FSG or/and ≥1% decrease of HbA1c from the baseline values after 3 months treatment.48 responded to pioglitazone and 32 responded to metformin. Analysis 1:Total Cholesterol(TC) Analysis 2:Triglyceride(TG) Analysis 3:High Density Lipoprotein(HDL) Analysis 4:Low Density Lipoprotein(LDL)

Measure: Comparison of Changes in Lipid Profiles With Pioglitazone and Metformin

Time: 3 months for each drug

3 Hypocaloric Diet With or Without Microencapsulated Fish Oil or Conjugated Linoleic Acid on Oxidative Stress and Cardiovascular Risk Factors in Women With Metabolic Syndrome Genotyped for Polymorphisms in the Genes PPAR Gamma 2 (Pro12Ala) and Adiponectin (G276T)

Our aim was to assess the effects of a hypocaloric diet, including diet fruit jelly with microencapsulated fish oil or conjugated linoleic acid or placebo, on anthropometry, body composition, insulin resistance and lipid profile in women with metabolic syndrome and genotype Pro12Pro in the PPAR gamma 2 gene.

NCT02183922
Conditions
  1. Insulin Resistance
  2. Oxidativ
  3. Oxidative Stress
  4. Lipid Profile
  5. Blood Pressure
  6. Anthropometric Measure
Interventions
  1. Dietary Supplement: microencapsulated conjugated linoleic acid
  2. Dietary Supplement: microencapsulated fish oil
  3. Dietary Supplement: light fruit jam
MeSH:Metabolic Syndrome Insulin Resistance
HPO:Insulin resistance

Hypocaloric Diet With or Without Microencapsulated Fish Oil or Conjugated Linoleic Acid on Oxidative Stress and Cardiovascular Risk Factors in Women With Metabolic Syndrome Genotyped for Polymorphisms in the Genes PPAR Gamma 2 (Pro12Ala) and Adiponectin (G276T). --- Pro12Ala ---

Primary Outcomes

Description: Plasma malondialdehyde levels

Measure: Oxidative stress biomarker

Time: Change from baseline at 12 weeks

Secondary Outcomes

Description: Homeostatic Model Assessment-Insulin Resistance index, adiponectin, glucose and insulin levels

Measure: Insulin resistance

Time: Change from baseline at 12 weeks

Description: Total cholesterol, LDL-cholesterol, VLDL-cholesterol, HDL-cholesterol and triglycerides serum levels and EPA, DHA and total conjugated linoleic acid plasma levels

Measure: Lipid profile

Time: Change from baseline at 12 weeks

Description: Body weight, body mass index and waist circumference

Measure: Anthropometric measures

Time: Change from baseline at 12 weeks

Description: Fat-free mass and fat mass

Measure: Body composition measures

Time: Change from baseline at 12 weeks

Description: Systolic blood pressure and diastolic blood pressure

Measure: Blood pressure

Time: Change from baseline at 12 weeks

4 Alcohol-related Breast Cancer in Postmenopausal Women - Effect of PPARG2pro12ala Polymorphism on Female Sex-hormone Levels and Interaction With Alcohol Consumption and NSAID Usage

Postmenopausal women, stratified by a peroxisome proliferator-activated receptor gamma-2 (PPARG) polymorphism, were given the following treatments in a random order with a 5w wash-out period: a 400mg ibuprofen tablet or a placebo tablet; both treatments were followed after 30min by a single acute dose of 0.4g alcohol per kg bw. Serum estrogen levels were measured before and at three timepoints after alcohol intake. It is hypothesized that the acute decrease in estrogen sulphate and other markers of estrogens after alcohol intake is modulated by ibuprofen and by PPARG genotype.

NCT02463383
Conditions
  1. Breast Cancer
Interventions
  1. Drug: Ibuprofen Tab 400 MG
  2. Drug: Placebo tab
MeSH:Breast Neoplasms
HPO:Breast carcinoma Neoplasm of the breast

cholesterol lowering medicine); 7. being allergic to alcohol and/or Ibuprofen 8. smoking Breast Cancer Breast Neoplasms In a pilot human intervention trial we aimed to determine the effect of the PPARG Pro12Ala polymorphism and the PPARγ stimulator, Ibuprofen, on sex-hormone levels following alcohol intake in postmenopausal women. --- Pro12Ala ---

Seven women with PPARG Pro12Ala and 18 PPARG wildtype women were included.The study was performed as a randomised, double-blinded, placebo controlled 2x24 h crossover study. --- Pro12Ala ---

Primary Outcomes

Description: Plasma estrone sulfate concentration after acute ethanol intake by Ibuprofen intake and/or PPARG genotype

Measure: Serum estrone sulphate (pmol/l)

Time: from 40 min before to 90 min after alcohol consumption

Secondary Outcomes

Description: Plasma estrone decrease after acute ethanol intake by ibuprofen intake and/or PPARG genotype

Measure: Serum estrone (pmol/l)

Time: from 40 min before to 90 min after alcohol consumption

Description: Plasma SHBG concentration after acute ethanol ingestion by ibuprofen intake and/or PPARG genotype

Measure: Serum SHBG (nmol/l)

Time: from 40 min before to 90 min after alcohol consumption

Description: Plasma ethanol concentration after acute ethanol ingestion

Measure: Serum ethanol (g/l)

Time: from 40 min before to 90 min after alcohol consumption

Description: The plasma metabolome profile by time after alcohol intake

Measure: Serum metabolomics (relative metabolite intensity)

Time: from 40 min before to 24h after alcohol intake

Description: The urine metabolome profile by time after alcohol intake

Measure: Urine metabolomics (relative metabolite intensity)

Time: from 40 min before to 24h after alcohol intake

5 Effect of Nutritional Intervention and Olive Oil in Severe Obesity: Randomized Controlled Trial

Obesity is a worldwide epidemic with increasing prevalence, specially severe obesity (Body Mass Index (BMI) ≥ 35 kg/m2). It is a multifactorial disease that involves genetic and environmental factors that lead to increased mortality from cardiovascular disease, diabetes, cancer, among others and impairs life quality. Most research on severe obesity focuses on surgical alternatives and their results, thus this clinical trial aims to evaluate the effect of a non-pharmacological approach based on nutritional intervention and supplementation with a functional food, the olive oil. It will analyze the effectiveness of interventions on: weight loss, improvements on body composition and inflammatory profile (TNF-alfa, interleucins 1, 6 and 10, adiponectin), insulin resistance and serum lipids control, changing eating habits and physical activity practice, modification on bone mineral density and sarcopenia, and reduction of cardiovascular risk and other diseases. Also, it will be investigated the influence of polymorphisms (Pro12Ala of PPAR-γ gene, -174G>C of IL6 gene e Trp64Arg of ADRB3 gene) on nutritional intervention effectiveness with and without olive oil. This research looks for improving severely obese patient's care and contributing to effective results by reducing costs and risk treatment. The investigators believe that this informations will contribute significantly to the scientific field, expanding the knowledge about severe obesity.

NCT02463435
Conditions
  1. Severe Obesity
Interventions
  1. Behavioral: Nutritional intervention
  2. Other: Nutritional intervention plus olive oil
  3. Dietary Supplement: Olive oil
MeSH:Obesity Obesity, Morbid
HPO:Obesity

Also, it will be investigated the influence of polymorphisms (Pro12Ala of PPAR-γ gene, -174G>C of IL6 gene e Trp64Arg of ADRB3 gene) on nutritional intervention effectiveness with and without olive oil. --- Pro12Ala ---

Polymorphism Pro12Ala of Peroxisome Proliferator-Activated Receptor Alfa (PPAR-alfa). --- Pro12Ala ---

Primary Outcomes

Description: Measurements of weight, arm circumference and Body Mass Index (BMI) will be evaluated to assess anthropometric change.

Measure: Anthropometric measurements change

Time: Baseline, week 12

Description: Body fat mass (BFM), body fat percentage (%BF) and body mass density (BMD) will be evaluated to assess body composition change. BFM and %BF will be assessed using multifrequency bioelectrical impedance analysis (BIA) and dual energy X-ray absorptiometry (DXA) and BMD will be assessed using DXA.

Measure: Body composition change

Time: Baseline, week 12

Secondary Outcomes

Description: TNF-alfa, interleucin 6 (IL6), IL1, IL10, adiponectin, C-reactive protein (CRP)

Measure: Change in inflammation parameters

Time: Baseline, week 12

Description: Lipid profile (total cholesterol, LDL-c, HDL-c, VLDL-c), insulin resistance (HOMA-IR, glycated hemoglobin), fasting glycaemia, hemogram

Measure: Change in metabolic parameters

Time: Baseline, week 12

Description: Creatinine, urea and uric acid

Measure: Change in kidney function

Time: Baseline, week 12

Description: AST and ALT

Measure: Change in liver function

Time: Baseline, week 12

Description: TSH, T4 and parathyroid hormone

Measure: Change in thyroid function

Time: Baseline, week 12

Description: Vitamin D, vitamin B12 and folic acid

Measure: Change in vitamins

Time: Baseline, week 12

Description: Iron, calcium, sodium, potassium and zinc

Measure: Change in minerals

Time: Baseline, week 12

Measure: Change in cardiovascular risk using Global Risk Score (GRS)

Time: Baseline, week 12

Measure: Change in cardiovascular risk using Framingham Risk Score (FRS)

Time: Baseline, week 12

Measure: Change in cardiovascular risk using heart rate variability (HRV)

Time: Baseline, week 12

Measure: Change in cardiovascular risk using Homocystein level

Time: Baseline, week 12

Description: Difference in responses between intervention groups for anthropometric measurements (weight, arm circumference and body mass index) and body composition variables (body fat mass and body fat percentage) according to this polymorphism

Measure: Polymorphism Pro12Ala of Peroxisome Proliferator-Activated Receptor Alfa (PPAR-alfa)

Time: Baseline, week12

Description: Difference in responses between intervention groups for anthropometric measurements (weight, arm circumference and body mass index) and body composition variables (body fat mass and body fat percentage) according to this polymorphism

Measure: PolymorphismTrp64Arg of Beta-3 Adrenergic Receptor (ADRB3) gene

Time: Baseline, week12

Description: Difference in responses between intervention groups for anthropometric measurements (weight, arm circumference and body mass index) and body composition variables (body fat mass and body fat percentage) according to this polymorphism

Measure: Polymorphism -174G>C of Interleukin 6 (IL6) gene.

Time: Baseline, week12

Measure: Change in physical activity practice using Global Physical Activity Questionnaire

Time: Baseline, week 12

Measure: Change in physical activity practice using accelerometry

Time: Baseline, week 12

Measure: Change in food intake using Food Frequency Questionnaire

Time: Baseline, week 12

Measure: Change in food intake using 24 hour recall

Time: Baseline, week 12

Description: Change in the following variables: bone density using DXA, falls and fractures and sun exposure

Measure: Change in bone health parameters

Time: Baseline, week 12

Measure: Change in obesity sarcopenia using muscle mass (evaluated using DXA)

Time: Baseline, week 12

Measure: Change in obesity sarcopenia using handgrip strength

Time: Baseline, week 12

Measure: Change in sarcopenia using usual gait speed

Time: Baseline, week 12

Description: It will be evaluated through changes in food consumption (food frequency questionnaire)

Measure: Adherence to nutritional intervention

Time: Baseline, week 12

Description: It will be evaluated through attendance to the clinic visits

Measure: Adherence to the health service

Time: Baseline, week 12

Measure: Change in symptoms of anxiety and depression using Hospital Anxiety and Depression Scale

Time: Baseline, week 12

Measure: Change in symptoms of binge eating disorderusing Binge Eating Disorder Scale

Time: Baseline, week 12

Measure: Change in musculoskeletal pain using Visual Analog Scale

Time: Baseline, week 12

Measure: Change in musculoskeletal pain using Nordic Musculoskeletal Questionnaire

Time: Baseline, week 12

6 Influence of Polymorphysms in the Fto and Ppar Gen Genes, Systemic Inflammation and Oxidative Stress in the Magnitude of Weight Loss Induced by Intermittent or Moderate Continuous High Intensity Training Programs

The study focuses on the influence of polymorphism in the FTO genes rs9939609 and PPARᵧ Pro12Ala, oxidative stress and systemic inflammation on changes in body composition and rest metabolism induced by HIIT and continuous aerobic programs in obese or overweight individuals.

NCT03568773
Conditions
  1. Overweight and Obesity
  2. Chronic Disease
Interventions
  1. Other: High-intensity interval training
  2. Other: Aerobic exercise moderate intensity
  3. Other: Control Group
MeSH:Overweight Weight Loss Chronic Disease
HPO:Decreased body weight Weight loss

Influence of Genetic and Physiological in Weight Loss The study focuses on the influence of polymorphism in the FTO genes rs9939609 and PPARᵧ Pro12Ala, oxidative stress and systemic inflammation on changes in body composition and rest metabolism induced by HIIT and continuous aerobic programs in obese or overweight individuals. --- Pro12Ala ---

Thus, the objective of the study is to analyze the influence of polymorphism in the genes FTO rs9939609 and PPARᵧ Pro12Ala, oxidative stress and systemic inflammation on changes in body composition and rest metabolism induced by continuous and continuous aerobic programs. --- Pro12Ala ---

Primary Outcomes

Description: The procedure used for analysis is done using a Dual Energy Radiological Absortiometry (DEXA) equipment. The measurement of the body fat and fat free mass percentage measure is obtained by means of a full body scan using the LUNAR PRODIGY DF + 14.319 Radiation (Madison, WI) brand device, following manufacturer's protocols. The body mass is evaluated by means of a balance (Sanny®, São Bernardo do Campo - São Paulo, Brazil), with the volunteer barefoot and in orthostatic position using a Toledo scale sensitive to 100 g. The stature is evaluated by a stadiometer with a tape calibrated at 0.1 of the same mark. Waist circumference and other body perimeters are measured with a 0.1 cm Anthropometric Tape (Sanny®, São Bernardo do Campo - São Paulo, Brazil). Weight and height data are used to calculate BMI using the equation adopted by the WHO: BMI = (Weight / (Stature) 2).

Measure: Body Composition. The changes are being evaluated.

Time: Before the intervention protocol and 48 hours immediately after the last exercise session.

Secondary Outcomes

Description: The metabolic rate was measured using a gas spirometry analyzer. After having fasted from 8:00 pm the previous day, the volunteers were referred to the laboratory shortly after the awakening and were invited to remain seated in a thermoneutral environment for 30 minutes. For the next 30 minutes, VO2, VCO2, VE and RER were monitored until variations of no more than 10% occurred when five-minute intervals were compared. Once this steady state was obtained, these variables were recorded for five minutes. The calculation of the resting metabolic rate is done according to Macdonald (1990).

Measure: Metabolic Rate of Rest. The changes are being evaluated.

Time: Before the intervention protocol and 48 hours immediately after the last exercise session.

Description: Collections of 10 ml of blood from the antecubital vein will be performed early in the morning, with fasting from 10 to 12 hours. The collections will be done 24 hours before, in the 6th week and after the intervention period. They will remain seated for 10 minutes for subsequent collection. Five milliliters of blood will be placed in EDTA-containing test tubes, protected from light and gently homogenized by inversion. The other 5ml will be placed in tubes without anticoagulants. They will then be centrifuged at 3,000 rpm for 10 min. The plasma or serum will be separated, placed in eppendorf tubes and refrigerated at -20 ° C until analysis. All analyzes will be carried out using a commercial kit of the Labtest brand (Minas Gerais-Brazil). The analyzes will be carried out on serum samples using commercial Labtest kits (Minas Gerais, Brazil), following the manufacturer's recommendations and on a Labmax 240 premium automatic analyzer (Lagoa Santa-MG, Brazil).

Measure: Lipid and Glycemic Profile. The changes are being evaluated.

Time: The collections will be done 24 hours before, in the 6th week and 48 hours after the end of the intervention.

Description: 10 ml of blood will be collected in the beginning of the morning, with fasting of 10 to 12 hours, being done 24 hours before, in the 6th week and after the intervention period. Five milliliters of blood will be placed in test tubes containing EDTA and protected from light and the other 5ml will be placed in tubes without anticoagulants and centrifuged at 3,000 rpm for 10 min. The plasma or serum will be separated, placed in eppendorf tubes and refrigerated at -20 ° C until analyzed by a commercial kit of the Labtest brand (Minas Gerais, Brazil). For this, 250 μl of sample will be added to KCl and incubated in a water bath (37 ° / 60 minutes). The mixture will be precipitated with 35% AA perchloric acid and centrifuged at 14,000 rpm for 10 minutes at 4 ° C. The supernatant will be transferred to eppendorfs and 400μl of 0.6% thiobarbituric acid is added and incubated at 95-100 ° C for 30minutes. The material will be read in a spectrophotometer at a wavelength of 532nm.

Measure: Oxidative stress (Malondialdehyde). The changes are being evaluated.

Time: The collections will be done 24 hours before, in the 6th week and 48 hours after the end of the intervention.

Description: 10 ml of blood will be collected in the beginning of the morning, with fasting of 10 to 12 hours, being done 24 hours before, in the 6th week and after the intervention period. Five milliliters of blood will be placed in test tubes containing EDTA and protected from light and the other 5ml will be placed in tubes without anticoagulants and centrifuged at 3,000 rpm for 10 min. The plasma or serum will be separated, placed in eppendorf tubes and refrigerated at -20 ° C until analyzed by a commercial kit of the Labtest brand (Minas Gerais, Brazil). The evaluation of the total antioxidant capacity will be performed through DPPH. For analysis, 100 μl of plasma will be added to 3.9 ml of vortexed DPPH solution, set to stand for 30 minutes and then centrifuged at 10,000 rpm for 15 minutes at 20 ° C. The supernatant will be used for spectrophotometer reading at 515 nm wavelength, using distilled white water. The result will be expressed as a percentage of antioxidant activity.

Measure: Oxidative stress (Total antioxidant capacity). The changes are being evaluated.

Time: The collections will be done 24 hours before, in the 6th week and 48 hours after the end of the intervention.

Description: 10 ml of blood will be collected in the beginning of the morning, with fasting of 10 to 12 hours, being done 24 hours before, in the 6th week and after the intervention period. Five milliliters of blood will be placed in test tubes containing EDTA and protected from light and the other 5ml will be placed in tubes without anticoagulants and centrifuged at 3,000 rpm for 10 min. The plasma or serum will be separated, placed in eppendorf tubes and refrigerated at -20 ° C until analyzed by a commercial kit of the Labtest brand (Minas Gerais, Brazil). The concentration of hs-CRP will be quantified by immunoturbidimetry in serum samples. Calibration will use the Calibra Calibrator from Labtest (Calibra Plus PCR-ultra - Ref-345). Absorbance will be obtained on the Labmax 240 premium automatic analyzer at 540 nm wavelength. The concentrations of hs-CRP will be determined by the commercial kit (Labtest, Minas Gerais, Brazil) according to the manufacturer's instructions.

Measure: Systemic Inflammation (Plasma ultra-sensitive C-reactive protein). The changes are being evaluated.

Time: The collections will be done 24 hours before, in the 6th week and 48 hours after the end of the intervention.

Description: 10 ml of blood will be collected in the beginning of the morning, with fasting of 10 to 12 hours, being done 24 hours before, in the 6th week and after the intervention period. Five milliliters of blood will be placed in test tubes containing EDTA and protected from light and the other 5ml will be placed in tubes without anticoagulants and centrifuged at 3,000 rpm for 10 min. The plasma or serum will be separated, placed in eppendorf tubes and refrigerated at -20 ° C until analyzed by a commercial kit of the Labtest brand (Minas Gerais, Brazil). The A1GPA concentration will be quantified by immunoturbidimetry using the commercial kit (Labtest, Minas Gerais, Brazil) as per manufacturer's instructions. Calibration will use the Calibra Calibrator from Labtest (Calibra Plus Protein - Ref-346). The absorbance will be obtained in the Labmax 240 premium automatic analyzer (Lagoa Santa-MG, Brazil), at wavelength 340nm.

Measure: Systemic Inflammation (Analysis of alpha-1-glycoprotein acid). The changes are being evaluated.

Time: The collections will be done 24 hours before, in the 6th week and 48 hours after the end of the intervention.

Description: Oral cell samples were collected through a mouthwash for 60 seconds of 5 ml of 3% sucrose solution. The resulting contents of the mouthwash were transferred to a 15 ml tube, which immediately afterwards was placed in a solution of TNE (17 mM Tris-HCl pH 8.0, 50 mM NaCl and 7 mM EDTA), diluted to 66% alcohol and autoclaved distilled water.After this, the extraction and genotyping process followed the recommendations of Saiki et al. (1985)

Measure: DNA Extraction and Genotyping

Time: The genetic collection will be made in the 6th week of the intervention.


HPO Nodes


HP:0000819: Diabetes mellitus
Genes 547
VANGL2 NR2E3 WFS1 GLIS3 FOXH1 PROK2 TRNL1 NDUFS6 PPARG PEX1 FBN1 LMNB2 LIMK1 PRPF4 RP2 CFTR PAX4 PPARG CTNNB1 HBB COL2A1 POC1A KCTD1 LIG4 PDE6B TOPORS ARL2BP ABCC8 SLC30A8 KCNJ11 MLXIPL CDON WRN PRKAR1A PROM1 TRNE NEUROD1 CNBP KCNJ11 MMP14 C8ORF37 APOE SLC16A2 CTRC ZBTB20 BBS2 WFS1 BLK WFS1 KRAS COX3 CYTB ZFYVE26 FGF8 SOX2 XRCC4 CDH23 ELN CEL GPR35 SLC29A3 FOXC2 EIF2AK3 PTF1A TCF7L2 HNF1A ARMC5 MKKS PDE6A PDX1 COX2 PSTPIP1 EIF2AK3 GTF2I NEUROD1 CNOT1 ATP6 USH2A ITPR3 LMNA NDUFA1 NDUFA11 CAVIN1 PCARE HLA-DRB1 CAT TCF4 AIP GCK PLCD1 HNF4A HERC2 PDX1 OTX2 HJV TRNH IL6 PWAR1 PAX4 TKT RPE65 REEP6 HNF4A RLBP1 SIX3 CFTR IGF2BP2 HNF1A POMGNT1 ND1 SAG GCK BLK GPD2 RAC1 AKT2 SEMA4A WRAP53 MOG CP ARL6 AIP ALMS1 SBDS NPAP1 CDHR1 ITCH BLM HNF1B NSMCE2 ARNT2 TWNK PDX1 PDX1 DLL1 ROM1 NDUFAF3 SNORD116-1 PDE11A NDUFS4 FOXP3 WRN ZMPSTE24 UBR1 ZNF513 INSR IARS1 SLC19A2 RP1 GJA1 TRNS2 TRNS1 PRKACA PCNT FLT1 NOTCH3 TULP1 LMNA MC4R PRKACA PNPLA6 CAV1 IFIH1 NOP10 NEUROD1 MEN1 PLAGL1 ND3 TRNK ZFP57 BRCA2 SPATA7 OPA1 VANGL1 DMXL2 NODAL GJB4 EDA2R HBB CA4 MKRN3 SNORD115-1 FXN GATA6 WFS1 RP9 ND4 TMEM126B NDP BRCA1 SLC19A2 ND5 HMGA1 NDUFAF1 MERTK RETN PRPF6 HLA-DQB1 SPINK1 CP COX1 HNF4A RPGR ND6 MST1 GUCA1B NDUFA6 EDA HNF1A RNASEH2C ALMS1 TIMMDC1 HFE CIDEC DNAJC3 INS KIAA1549 IRS1 LMNA PROKR2 GCK PRKAR1A HNF1B LEPR POLR3A HYMAI SNRNP200 LIPE HYMAI CNGB1 CLRN1 ZIC2 APOA5 GAS1 EFL1 PIK3R1 TTC8 SARS2 HNF1A GJA1 PTF1A RNASEH2B TRNF NEUROG3 LRP6 TDGF1 NDUFB11 HESX1 NDN FOXP3 HNF1B ABCC8 ND2 TGIF1 PRPH2 DNM1L PRSS2 BBS2 INS NUBPL LIPE SAMHD1 DISP1 DHDDS LEMD3 DKC1 MKRN3-AS1 KLF11 IDH3B TRNL1 GLI2 FUZ SMPD4 COX1 PLIN1 SLC25A4 CNGA1 LHX1 SNRPN INS AGPAT2 GNAS SUFU DNAJC21 FOS SPINK1 CAV1 ARL3 HFE TUB TRNK KLF11 AKT2 NDUFB3 PPP1R3A NEK2 STAT1 PRPF3 RDH12 USP8 IFT172 BSCL2 ABCC8 HAMP PDE8B NDUFV1 PNPLA2 CYP19A1 LMNA ARHGEF18 MMP2 ABCA4 LRAT NDUFS7 INS TRNL1 LMNA ABCC8 PAX4 PRSS1 CLIP2 BEST1 SCAPER PIK3R1 ZNF408 SIM1 KCNJ11 PTRH2 FXN TRMT10A CASR BAZ1B ATM CPA1 NDUFS2 BRAF ADAR ZFP57 APPL1 TRNQ TRNQ RRM2B DNAJC3 STOX1 RFC2 PRCD DHX38 HNF1B IRS2 SMAD4 HNF1A ND1 KCNJ11 SLC7A14 PDE4D CDKN2A IL18BP PTRH2 NDUFS3 TRNF NDUFAF2 FAM161A VANGL2 FGFR1 CISD2 ABCC8 LEP XRCC4 TTPA NHP2 NKX2-5 AMACR MAGEL2 KDSR POLD1 KIZ INS CORIN NDUFS8 DCAF17 NDUFAF4 FOXRED1 PEX6 COX3 PRSS2 MTNR1B BMP2 PEX10 PARN PAX4 NDUFB10 ND1 INSR PRSS1 TP53 NPM1 MAGEL2 HBB POLG2 SOX3 SLC12A3 AIRE UBR1 GCK IL2RA TRNW WFS1 IMPG2 TRNS2 PTCH1 LEPR KCNJ11 IL2RA CLCNKB ATM STAT3 AGBL5 CARS1 HMGA2 COX2 MAFA TTC7A TWNK GJB3 LMNA AHR PLAGL1 PALLD NDUFS1 CRX CRB1 GATA6 GLRX5 ENPP1 CEL HNF4A CTC1 TRNV RNASEH2A HYMAI NDUFV2 IMPDH1 APPL1 BBS1 PALB2 GTF2IRD1 EIF2S3 SHH AEBP1 SLC2A2 PRPF31 MTHFR KLHL7 NDUFAF8 TERC PDX1 GCK TP53 AGPAT2 CCDC28B SLC29A3 ABCC8 PLIN1 GATA3 NRL PDE6G RBP3 PDX1 DCAF17 IPW NDUFAF5 MTHFR XRCC4 CTNS GCK FGFR1 STUB1 HNF1A BLM ELMO2 STAT3 HGSNAT KCNJ11 CERKL TRNW RTEL1 TRNC CTRC KCNJ11 RHO IDH3A RP1L1 TREX1 ITCH PNPLA2 PWRN1 CNOT1 FOXP1 ND6 EYS SRP54 TINF2 INSR IFT88 POLG ARL6 AHI1 ELN PTPN22 CEP19 PRPF8 POLA1 MAPK8IP1 MAK ND5 TERT LIPC BSCL2 AR CISD2 KCNJ11 OFD1 USB1 TBL2 RGR ERGIC1 FSCN2 NDUFB9 IER3IP1 INS DMPK PTPN1 NSMCE2 GPR101 HNF4A PPARG IFT140 PPARG PDE4D GCK TRNS1 SPINK1 PPP1R15B ABCC8 STAT1 IGF1R TRNE
HP:0001513: Obesity
Genes 490
NR2E3 WT1 LMNA TBX3 POGZ PROK2 DCC MID2 SDCCAG8 ZNF41 RAB39B LIMK1 CNKSR2 PRPF4 PDE11A RP2 USP27X BBS10 CTNNB1 KIDINS220 FGFR3 XYLT1 PDE6B TOPORS GP1BB BBS7 GATA4 ARL2BP KCNJ11 MLXIPL HS6ST1 CEP290 GHRL EGF TAF1 PRKAR1A SEC24C PROM1 BBS12 POMC NPHP1 CARTPT C8ORF37 APOE DMD ZBTB20 BBS2 SYNE2 BLK UBE3A CCDC141 TMEM43 FTSJ1 HCFC1 FEZF1 SOX2 CACNA1S CDH23 BBS7 EMD ELN IFT172 CEL MAGEL2 TMEM67 JMJD1C UFD1 NIN ARMC5 CREBBP MKKS PDE6A BAP1 FHL1 GTF2I NEUROD1 USH2A SIN3A KIF7 RBMX PCARE CXORF56 EXOC6B MCM3AP LEP TBX1 HERC2 MED12 PDX1 OTX2 USP9X ARL6 LZTFL1 PWAR1 ADRB3 BBS9 RPE65 REEP6 RLBP1 HNF1A ERMARD TTC8 POMGNT1 INPP5E WDPCP CUL4B SAG SDCCAG8 SDC3 HESX1 KMT2A BLK RAD21 SEMA4A MOG ATP6AP2 CEP164 ARL6 BBS12 POMC MAN1B1 CTSH ALMS1 HSD11B1 NPAP1 CDHR1 RERE BLM HCRT ARNT2 FLRT3 BBS4 ROM1 SNORD116-1 ARHGEF6 ZNF711 ZNF513 GDI1 GNAS VPS13B RP1 FTO DDX6 PCNT POU3F4 TULP1 DUSP6 MC4R PNPLA6 SYP CREBBP SPATA7 LMNA GABRA3 H6PD CA4 NIPBL GNAS MKRN3 FMR1 SNORD115-1 RP9 MC3R MKS1 BBS2 PHF6 SUFU GNAS-AS1 WDR11 TSPAN7 MERTK GNAS MTTP PRPF6 NR0B2 GNAS BAP1 PRKAR1A MYT1L HNF4A RAI1 DYNC2I2 RPGR BBS9 SMARCB1 NKAP RAB23 GUCA1B LAS1L ZNF365 ALMS1 PAX6 HDAC8 ATRX TRAF3IP1 HDAC8 KIAA1549 CNNM2 PROKR2 MOG SEMA3A BBS5 PAX6 LEPR LZTFL1 SYNE1 SNRNP200 MKKS SMC1A PRMT7 CNGB1 MEGF8 CLRN1 TTC8 MAPK8IP3 TRAF7 AKT2 SETD2 IQSEC2 PCNT PPARG P2RY11 HESX1 BBS10 NDN POMC RAB23 MECP2 SOX10 PRPH2 PTCHD1 KCNJ18 BBS2 INS ACADVL LIPE KMT2D DHDDS WNT4 HLA-DQB1 MKRN3-AS1 KLF11 IDH3B TUB BBIP1 CCDC141 FRMPD4 CNGA1 ARL13B ADCY3 ACSL4 SNRPN PHF21A GNAS GNAS TBX3 STX16 ARL3 SH2B1 TUB SMO HUWE1 SHOX CYP7A1 NEK2 PRPF3 PAK3 RDH12 TCF20 USP8 IFT172 BBIP1 FGF8 ADNP IFT27 CYP19A1 ARHGEF18 RREB1 ABCA4 SLC10A7 PDGFB LRAT ARVCF PKDCC IQSEC2 MTFMT CLIP2 C8ORF37 SIM1 TBX1 BEST1 PIGT SETD5 PDSS1 EHMT1 SPG11 SCAPER ZNF408 RPS6KA3 SIM1 SH2B1 BAZ1B BRAF SLC25A4 P4HTM CEP290 C8ORF37 APPL1 UPF3B ENPP1 TRIM32 AFF4 SMARCE1 RFC2 AIP RNPC3 PRCD DHX38 UCP3 IFT172 BBS5 SLC7A14 PDE4D ATRX WT1 FAM161A ANOS1 SHANK3 IFT172 FGFR1 ZNF711 MC4R LEP DLG3 NSMF PNKP GNAS MAGEL2 RPS6KA3 KIZ SLC7A7 ADRB2 RAI1 MEGF8 AFF4 HDAC8 FXR1 GNAS CLCN4 PSMD12 PHF6 OFD1 PAX4 TRIP12 MAGEL2 GABRD EP300 TRAPPC9 SOX3 PHIP PTEN KCNAB2 WAC NDNF FGF17 ARMC5 HDAC4 SH3KBP1 IMPG2 LARS2 HACE1 ADNP AGRP LEPR PROK2 IL17RD AGBL5 USP8 TERT BPTF THOC2 PIK3CA SKI AHR TRAPPC9 CRX CRB1 PRMT7 KISS1R NF2 COMT TBX1 IMPDH1 SMAD4 BBS1 GTF2IRD1 EIF2S3 BBS1 PRPF31 PCSK1 KLHL7 DEAF1 COL10A1 AKT2 SMC3 CCDC28B CUL4B ABCC8 FLII DPYD PDE4D NRL PDE6G RBP3 MRAP2 AGTR2 VPS13B KDM6A IPW IGFALS PROKR2 MECP2 XRCC4 TRIM32 FGFR1 SPRY4 MKS1 ALG13 HGSNAT CERKL AKT1 RHO IDH3A RP1L1 EHMT1 EP300 PWRN1 IGF1 TACR3 SIN3A EYS EIF2S3 BBS4 IL1RAPL1 LAS1L IFT88 ARL6 CREBBP AHI1 CHD7 ELN CEP19 ARL6 PRPF8 SLC9A7 PCSK1 MAK SRY DNMT3A HACE1 HLA-DRB1 TTC8 TNFSF4 DYRK1B FOXP1 KIDINS220 OFD1 TBL2 BDNF RGR FSCN2 HIRA GHR NTRK2 IQSEC2 IFT74 ZNF81 XYLT1 ALB PRDM16 IFT140 IFT27 MAN1B1 ARX PDE4D SIM1 GCK IGF1R CANT1 SH2B1
Protein Mutations 3
G20210A P12A W64R
HP:0001824: Weight loss
Genes 331
MLH1 ZBTB16 NALCN AVP PADI4 MC2R AK2 HLA-DQA1 PRNP GIGYF2 KLRC4 CCND1 LPIN2 IL12A-AS1 NABP1 DNAJC13 NUMA1 POLG ACAT1 HLA-DRB1 PRNP CDKN1B MEN1 RHBDF2 SDHAF2 SLC39A4 SDHD WT1 TYMP SNCA GATA4 FANCI CFTR SDHB RET HLA-B SUCLA2 DAXX CCND1 BMPR1A RAD51C MLX HLA-DPB1 COL6A1 KRT10 PMS1 PTEN EDNRB KRAS SLX4 JAK2 TSHR FANCF TRPV4 ATRX TRIP13 CDC73 CACNA1S KRT1 FH BIRC3 PTEN SCNN1A RB1 DIS3L2 TRAIP KCNJ18 SDHD GPR35 JAK2 FANCD2 GBA KIF1B RAD51 JAK2 PLK4 STAT5B ERCC4 GATA2 DCTN1 ERCC2 BRCA2 TXNRD2 SDHA TP53 ERCC5 EIF2AK3 SEMA3C XRCC2 TET2 AKT1 SMAD4 MLH3 CDKN2C SDHC FAN1 FANCL CDKN2A CTLA4 SCNN1G POU6F2 MSH2 HLA-DRB1 TCF4 EWSR1 CD244 RET BRIP1 FLI1 ASXL1 TRIM28 SDHB JPH3 GDNF ATRIP B2M CEP152 ERCC4 KDSR FIP1L1 GALT TMEM127 PTPN22 INS EDN3 DNMT3A JPH3 CALR MRAP CHEK2 COL6A3 TTR TET2 CDH23 SCNN1A IGH LRRK2 PRNP EPCAM HLA-DRB1 IGH IL10 BCOR SLC6A8 NBN SLC25A11 RARA RET BCL10 FANCE RNF168 ERCC4 VPS35 MECP2 HLCS ACADM NOD2 HLA-B EIF4G1 TP53 PANK2 ATM BRCA1 VHL SLC22A4 CRLF1 PCNT FANCM POLG GCK PTEN FOXP3 FANCC PSAP H19 TRIM37 THPO TGFBR2 IKZF1 SDHAF1 UBE2T GJA1 MEFV STAT6 HTT GJB3 SNCA GPC3 STAR RPS20 SDHC STAT3 PALLD SRSF2 NOD2 BRCA2 RUNX1 IL6 SLC9A6 GALC GJB4 WT1 GABRA3 RRM2B GNPTAB MDH2 FANCG SDHA UNC80 NDP BRCA1 PALB2 MPL F5 FAS BMPR1A HLA-DQB1 ATR UBAC2 MAX CBL PDX1 LMNA NF1 TP53 MST1 PIK3CA CUL4B STAT4 TGFB1 DLST MALT1 HLA-B TSHR TP53 SEMA4A CENPE FOXP1 VPS13A FANCA IGH BCL2 TBL1XR1 MAD2L2 MPL SCNN1B SLC11A1 KRAS LMNA RFWD3 STAT3 PALB2 COL12A1 TLR4 SDHD DCTN1 HTT BCL6 LRP12 RRM2B JAK2 NOS1 PRKAR1A ERAP1 REST HSPG2 NPM1 MSH6 NAB2 BRCA2 SLC2A3 CNTNAP1 HMGCL IRF2BP2 ECE1 SDHB MPL HLA-DQB1 PIK3R1 C4A PML PRTN3 BTK IL12B ATP7B ERCC3 BTNL2 SDHD TET2 PTPN22 CYP24A1 FANCB EPAS1 TYMP ZMPSTE24 KCNJ18 IL12A SCNN1B TRIM28 PLA2G6 NNT SCNN1G POLG KCNJ11 CDKN1A MAFB CENPJ IL10 CACNA1S CCR1 CDKN2B WT1 KIF1B HAVCR2 VHL PMS2 IL23R HLA-DPA1 NFKBIL1 LIPA IFNGR1 RBBP8 COL6A2 NRTN SEMA3D CIITA HLA-DRB1 UNC80 ABCC8 PTPN22 SDHB
Protein Mutations 2
I148M P12A