SNPMiner Trials (Home Page)
Report for SNP rs2281135
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There are 2 clinical trials
Clinical Trials
1 Utilizing Non-Invasive Fibroscan® Technology to Identify Genetic Markers for Fatty Liver Progression
Non-alcoholic fatty liver disease (NAFLD) is a common disorder, affecting ~30% of people in the general population and up to 96% of obese individuals. Variations in several genes have been found to be associated with fatty liver, but these associations only explain a small percentage of the risk, and further studies are needed. In many cases NAFLD does not cause serious side effects, but in some individuals it progresses to scarring or hardening of the liver, liver failure, and cancer. The purpose of this research study is to determine if individuals who carry certain genetic variations in a gene related to bile and choline metabolism have an increased risk of fatty liver progressing to fibrosis, or scarring of the liver. This study will also use a new, non-invasive method called the FibroScan® to measure liver fat and liver stiffness. The FibroScan® device is FDA approved for use to measure liver stiffness, but not for the liver fat measurement. However, the FibroScan® instrument is considered a non-significant risk device. Since its induction in Europe and worldwide in 2003, there have been no adverse effects reported with this device.
NCT02267148 Non-alcoholic Fatty Liver Disease MeSH:Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease
HPO:Abnormality of the liver Decreased liver function Elevated hepatic transaminase Hepatic steatosis
As additional proof of principle that the measurements we are making correlate with genetics, the investigators will also measure two genetic variants that have been shown in many studies to correlate with liver fat and fibrosis by their research team and others: PNPLA3 rs738409 and rs2281135.
Primary Outcomes
Description: Measured by FibroScan® instrument
Measure: Liver stiffness measurement via transient elastography Time: Study Day 1Description: Measured using FibroScan® instrument
Measure: Liver fat measurement via Controlled Attenuation Parameter Time: Study Day 1Secondary Outcomes
Description: This is a calculated score which is a good predictor of liver disease
Measure: NAFLD-Fibrosis score Time: Study Day 12 Genetical Background of Non-alcoholic Fatty Liver Disease (NAFLD) in Diabetes Mellitus and in Chronic Kidney Disease
The present study investigates relationship between non-alcoholic fatty liver disease and its risk factors, such as genetic background and diseases, such as chronic kidney disease and diabetes mellitus.
NCT02947568 Non-alcoholic Fatty Liver Disease Chronic Kidney Disease Diabetes Mellitus Other: non-interventional study MeSH:Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease Kidney Diseases Renal Insufficiency, Chronic Diabetes Mellitus
HPO:Abnormality of the kidney Abnormality of the liver Chronic kidney disease Decreased liver function Diabetes mellitus Elevated hepatic transaminase Hepatic steatosis Nephropathy
In case of patatin-like phospholipase domain-containing protein 3 gene (PNPLA3) : rs738409, rs2281135, rs2294918 single nuclear polimorfism (SNP) will be examined.
Primary Outcomes
Description: The association of hepatic steatosis with chronic kidney disease, diabetes mellitus and the the persence of these two will be assessed
Measure: Association of NFS (NAFLD fibrosis score) and HSI (hepatic steatosis index) with underlying conditions Time: 2 yearsDescription: The association of hepatic steatosis with genetic factors will be assessed. In case of patatin-like phospholipase domain-containing protein 3 gene (PNPLA3) : rs738409, rs2281135, rs2294918 single nuclear polimorfism (SNP) will be examined
Measure: Association of genetical factors with NFS and HSI Time: 2 yearsSecondary Outcomes
Description: The association of serum creatinine, eGFR, blood urea nitrogen, serum sodium, serum potassium, serum calcium with NFS and HSI will be assessed
Measure: Association of hepatic steatosis with renal function Time: 2 yearsDescription: Association of HbA1C, fructosamine, blood glucose, serum insulin, HOMAIR, serum uric acid with NFS and HSI
Measure: Association of glucose metabolism parameters with hepaic steatosis indices Time: 2 yearsDescription: Association of serum bilirubine, serum GOT, serum GPT, serum GGT, serum ALP, serum LDH, INR, serum total protein, serum albumin with NFS and HSI
Measure: Association of liver function and hepatic setatosis indices Time: 2 yearsDescription: Association of serum total cholesterol, serum HDL-cholesterol, serum LDL-cholesterol, serum triglyceride, serum carnitine with NFS and HSI
Measure: Association of serum lipid profile and hepatic setatosis indices Time: 2 yearsDescription: association of serum iron, serum transferrine, serum transferrine saturation, serum ferritine with NFS and HSI
Measure: Association of iron metabolism parameters with hepatic setatosis indices Time: 2 yearsDescription: Association of blood count, erythrocyte sedimentation rate, CRP with NFS and HSI
Measure: The relationship between blood count, sedimentation and inflammation with hepatic setatosis indices Time: 2 yearsDescription: association of urinary total protein, urinary albumin, urinary total protein/creatinine ratio, urinary albumin/creatinine ratio with NFS and HSI
Measure: Assotion of serum proteins with hepatic setatosis indices Time: 2 yearsDescription: Association of serum meta-Tyr, serum ortho-Tyr, urinary meta-Tyr, urinary ortho-Tyr, urinary meta-Tyr/creatinine ratio, urinary ortho-Tyr/creatinine ratio with NFS and HSI
Measure: Association of pathological tyrosine isoforms with hepatic setatosis indices Time: 2 years