SNPMiner Trials by Shray Alag


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Report for SNP rs10741657

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Vitamin D Supplementation Enhances Immune Response to BCG Vaccination in Infants

The purpose of this study is to determine whether a single oral dose of vitamin D given to infants prior to Bacille-Calmette-Guerin (BCG) vaccination will enhance the immune response to BCG vaccination.

NCT01288950 Tuberculosis Dietary Supplement: Vitamin D3 (cholecalciferol)
MeSH:Tuberculosis

The investigators will also determine whether specific host genetic variants including the Fok-I(rs2228570T/C), Bsm-I(rs1544410A/G), GC(rs2282679A/C), DHCR7(rs12785878G/T) and CYP2R1 (rs10741657A/G) polymorphisms affect baseline vitamin D levels and alter the response to vitamin D supplementation.. Bacille-Calmette-Guerin (BCG) vaccine efficacy.

The investigators will determine whether specific host genetic variants including the Fok-I(rs2228570T/C), Bsm-I(rs1544410A/G), GC(rs2282679A/C), DHCR7(rs12785878G/T) and CYP2R1 (rs10741657A/G) polymorphisms affect the response to BCG vaccine in infants receiving either vitamin D or placebo.. Inclusion Criteria: - Healthy mothers > 18 years of age - Term, healthy infants eligible to receive the Bacille-Calmette- Guerin (BCG) vaccine Exclusion Criteria: - Recent maternal history of tuberculosis (within 1 year) or active tuberculosis - Known maternal human immuno-deficiency virus (HIV) infection - Maternal fever or chorio-amnionitis - Maternal use of vitamin D, steroids or immuno-regulatory medications - Household member with active tuberculosis Inclusion Criteria: - Healthy mothers > 18 years of age - Term, healthy infants eligible to receive the Bacille-Calmette- Guerin (BCG) vaccine Exclusion Criteria: - Recent maternal history of tuberculosis (within 1 year) or active tuberculosis - Known maternal human immuno-deficiency virus (HIV) infection - Maternal fever or chorio-amnionitis - Maternal use of vitamin D, steroids or immuno-regulatory medications - Household member with active tuberculosis Tuberculosis Tuberculosis In 2000, there were an estimated 884,000 cases of tuberculosis (TB) in children with many developing severe, disseminated disease.

Primary Outcomes

Description: BCG vaccine efficacy will be assessed by measuring the host immune response against BCG at 2 months, 6 months and one year after BCG immunization. A whole blood assay will be used to measure multiple cytokines and mycobacterial growth suppression.

Measure: Bacille-Calmette-Guerin (BCG) vaccine efficacy

Time: 2 months

Measure: Bacille-Calmette-Guerin (BCG) vaccine efficacy

Time: 6 months

Measure: Bacille-Calmette-Guerin (BCG) vaccine efficacy

Time: 1 year

Secondary Outcomes

Description: Serum 25 hydroxy (OH) vitamin D levels will be measured prior to vitamin D supplementation and at 2 months, 6 months and one year after BCG immunization. The investigators will also determine whether specific host genetic variants including the Fok-I(rs2228570T/C), Bsm-I(rs1544410A/G), GC(rs2282679A/C), DHCR7(rs12785878G/T) and CYP2R1 (rs10741657A/G) polymorphisms affect baseline vitamin D levels and alter the response to vitamin D supplementation.

Measure: Effect of a single dose of 50,000 IU vitamin D3 on serum vitamin D levels

Time: 2 months

Description: The investigators will determine whether specific host genetic variants including the Fok-I(rs2228570T/C), Bsm-I(rs1544410A/G), GC(rs2282679A/C), DHCR7(rs12785878G/T) and CYP2R1 (rs10741657A/G) polymorphisms affect the response to BCG vaccine in infants receiving either vitamin D or placebo.

Measure: Bacille-Calmette-Guerin (BCG) vaccine efficacy

Time: 1 year

2 Effectiveness of Vitamin D Supplementation to Reduce Injury and Illness in the UK Armed Forces With Specific Reference to Stress Fracture Risk Reduction

The study will comprise of an original investigation that will take the form of a prospective intervention (two matched groups) study. Condition-1 will be a vitamin D supplementation group (50.000 IU every two months), and Condition-2 will be a placebo supplementation group. The primary research aim of this project is to evaluate the effectiveness of vitamin D supplementation to reduce stress fracture risk and susceptibility to skin, soft tissue infection (SSTI) and respiratory infection in Royal Marine recruits undertaking arduous physical training in a randomised control trial (RCT). The secondary research aims are: 1. To investigate whether supplementation of vitamin D3 at a dose of 50.000 IU every two months (equivalent to 800 IU per day) is effective in reducing the risk of stress fracture and susceptibility to skin, soft tissue and respiratory infection. 2. To examine changes in vitamin D status (relative to baseline serum 25(OH)D concentration), serum PTH concentration, and markers of bone turnover in response to vitamin D3 supplementation during the winter and summer months. 3. To identify interactions between dietary intakes, physical fitness, physical characteristics (body mass, BMI, thigh girth), smoking habit, alcohol consumption, and stress fracture prevalence with serum 25(OH)D status, serum PTH concentration and markers of bone turnover in the vitamin D3 supplemented group vs. the placebo supplemented group.

NCT03963128 Stress Fracture Injury Dietary Supplement: Supplementation Vitamin D3 Dietary Supplement: Placebo
MeSH:Fractures, Stress

The specific SNPs for analysis will include: rs12785878 - 11q12 near DHCR7 (7-dehydrocholesterol reductase); rs10741657 - 11p15 near CYP2R1 (25hydroxylation); rs2282679 - 4p12 in GC (vitamin D binding protein); rs1998199 - 20q13 near STX16/NPEPL1/GNAS (associated with pseudo-hypoparathyoidism); rs6013897 - 20q13 near CYP24A1 (24 hydroxylation); and, Apa, taq, Bsm, fok1 - vitamin D receptor gene polymorphism.

Primary Outcomes

Measure: The effectiveness of supplementation of vitamin D3 at a dose of 50.000 IU administered every two months (equivalent of 800 IU per day) in reducing the risk of stress fracture.

Time: 32 weeks

Secondary Outcomes

Measure: The effectiveness of supplementation of vitamin D3 at a dose of 50.000 IU administered every two months (equivalent of 800 IU per day) in reducing the risk of susceptibility to skin infection.

Time: 32 weeks

Measure: The effectiveness of supplementation of vitamin D3 at a dose of 50.000 IU administered every two months (equivalent of 800 IU per day) in reducing the risk of susceptibility to soft tissue (SSTI) infection.

Time: 2018 - 2023

Measure: The effectiveness of supplementation of vitamin D3 at a dose of 50.000 IU administered every two months (equivalent of 800 IU per day) in reducing the risk of respiratory infection.

Time: 32 weeks

Measure: Changes in vitamin D status (relative to baseline serum 25(OH)D concentration) in response to vitamin D3 supplementation during the winter and summer months.

Time: 32 weeks

Measure: Changes in serum PTH concentration (relative to baseline concentration) in response to vitamin D3 supplementation during the winter and summer months.

Time: 32 weeks

Measure: Changes in markers of bone turnover (relative to baseline concentration) in response to vitamin D3 supplementation during the winter and summer months.

Time: 32 weeks

Measure: Interactions between dietary intakes, physical fitness, physical characteristics, smoking habit, alcohol consumption, and stress fracture prevalence with serum 25(OH)D status.

Time: 32 weeks

Measure: Interactions between dietary intakes, physical fitness, physical characteristics, smoking habit, alcohol consumption, and stress fracture prevalence with serum PTH concentrations.

Time: 32 weeks

Measure: Interactions between dietary intakes, physical fitness, physical characteristics, smoking habit, alcohol consumption, and stress fracture prevalence with markers of bone turnover.

Time: 32 weeks


HPO Nodes