SNPMiner Trials by Shray Alag


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Report for SNP rs4588

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 Knowledge Innovation Project of CAS - Genetic and Nutritional Association Studies on Metabolism-related Diseases in Chinese Population -- Vitamin D Intervention Study

This is a double-blind, randomized, placebo-controlled trial. Based on inclusion and exclusion criteria, 400 eligible volunteers, who were 20-45 years, with 25-hydroxyvitamin D between 12.5-50 nmol/L and BMI between 18.5-28 kg/m2, were enrolled and randomly assigned to placebo or 2000 IU/d vitamin D3 arm, after taking placebo for one week. The study protocol was approved by the Ethics Committee of Huadong Hospital Affiliated to Fudan University, Shanghai and all participants provided written informed consents.In this 2-arm RCT we aimed to systematically investigate the effect of: 1. vitamin D3 supplement on serum 25(OH)D levels and the modifying factors; 2. genetic and non-genetic variants on vitamin D bioavailability; 3. vitamin D3 supplementation on metabolic profiles and circulating bone-turnover markers

NCT01998763 Vitamin D Deficiency Dietary Supplement: Placebo Dietary Supplement: Vitamin D3
MeSH:Vitamin D Deficiency
HPO:Low levels of vitamin D

In addition, we developed a genetic risk score (GRS) to evaluate the combined effect of three SNPs (rs4588, rs1790349 and rs2060793) from GC, NADSYN1/DHCR7 and CYP2R.

Primary Outcomes

Description: Serum 25(OH)D (D2+D3) concentration was measured by a liquid chromatography-mass spectrometry (LC-MS) method

Measure: 25-hydroxyvitamin D

Time: 0,10,20 week

Secondary Outcomes

Description: Serum calcium was measured by an automatic biochemical analyzer

Measure: calcium

Time: 0,10,20 week

Description: Serum iPTH was measured by ADVIA Centaur XP Immunoassay System (Siemens, Germany)

Measure: parathyroid hormone

Time: 0,10,20 week

Description: Serum VDBP was measured by an ELISA kit

Measure: Vitamin D binding protein

Time: 0,10,20 week

2 Association of Vitamin D Binding Protein Polymorphisms With Response to Therapy in Chronic Hepatitis C Egyptian Patients

Introduction: Vitamin D binding protein (VDBP) is a potential modulator of immune response and is associated with clinical progression of many diseases. Our aim is to assess influence of baseline 25-hydroxyvitamin D levels and VDBP single nucleotide polymorphisms (SNPs), rs4588 (C>A) and rs7041 (G>T), on baseline clinical parameters and response to interferon based therapy in chronic Hepatitis C patients in Egypt. Methodology: Genotyping will be performed by RFLP (Restriction Fragment Length Polymorphism) in treatment naïve Hepatitis C patients and healthy controls. Vitamin D levels will be assessed by ELISA. HCV RNA quantification will be performed by PCR to assess therapy outcome.

NCT02788682 Chronic Hepatitis C Genetic: WT+ Diplotype
MeSH:Hepatitis C Hepatitis C, Chronic Hepatitis Hepatitis, Chronic
HPO:Chronic active hepatitis Chronic hepatitis Hepatitis

Our aim is to assess influence of baseline 25-hydroxyvitamin D levels and VDBP single nucleotide polymorphisms (SNPs), rs4588 (C>A) and rs7041 (G>T), on baseline clinical parameters and response to interferon based therapy in chronic Hepatitis C patients in Egypt.

Primary Outcomes

Measure: SVR

Time: 72 weeks

3 Effects of Fat-soluble Vitamins Supplementation in Early Life on Common Complications and Neural Development in Very Low Birth Weight Infants

Vitamins A, D, and E play important roles in humans, such as vision function, immune function, bone metabolism, cell growth and differentiation and oxidation resistance. Deficiencies in these vitamins will result in a high prevalence of cardiovascular disease, infection, bone diseases, etc. Preterm infants, especially very low birth weight infants, are at risk of vitamin deficiency. Intravenous perfusion is the most common and widely used method to supply vitamins for the specific population in early life. However, the current dose of vitamin supplied by intravenous perfusion whether can meet the need of growth and development is not sure and the appropriate dose for preterm infants is still uncertain. The purpose of this study is to investigate whether current dose of fat-soluble vitamin supplementation is enough for very low birth weight infants, the safety of high dose of fat-soluble vitamin supplementation, and compare the differences of prevalence of common complications, such as bronchopulmonary dysplasia, patent ductus arteriosus, sepsis, anemia, and neural development between these two groups.

NCT03876704 Vitamin A Deficiency Vitamin D Deficiency Vitamin E Deficiency Very Low Birth Weight Infants Bronchopulmonary Dysplasia Anemia Sepsis Drug: High dose of fat-Soluble Vitamin Drug: Conventional dose of fat-Soluble Vitamin
MeSH:Bronchopulmonary Dysplasia Night Blindness Vitamin D Deficiency Vitamin A Deficiency Vitamin E Deficiency Body Weight Birth Weight
HPO:Low levels of vitamin A Low levels of vitamin D Low levels of vitamin E Nyctalopia

Association of rs4588 polymorphism in vitamin D receptor gene and rs10766197 polymorphism in the cytochrome P450 family 2 subfamily R member 1 gene with baseline level of vitamin D and change in vitamin D level after 4~6 weeks' supplementation.

Primary Outcomes

Description: Change from baseline level of vitamin A, vitamin D, and vitamin E at 4~6 weeks

Measure: Vitamin levels

Time: within 72 hours after birth, 4~6 weeks old

Secondary Outcomes

Description: The prevalence of bronchopulmonary dysplasia, patent ductus arteriosus, sepsis, anemia, intracranial hemorrhage, extrauterine growth retardation, etc.

Measure: Complications

Time: corrected age of 36 weeks

Description: White matter disease of the preterm infant, was semiquantitatively assessed from MRI at term-equivalent age based on an established scoring method.

Measure: Neural development

Time: corrected age of 40 weeks

Description: Association of rs4588 polymorphism in vitamin D receptor gene and rs10766197 polymorphism in the cytochrome P450 family 2 subfamily R member 1 gene with baseline level of vitamin D and change in vitamin D level after 4~6 weeks' supplementation

Measure: Gene polymorphism in vitamin deficiency preterm infants

Time: within 72 hours after birth, 4~6 weeks old


HPO Nodes


HP:0000662: Nyctalopia
Genes 303
SEMA4A SNRNP200 PROM1 OAT TTLL5 LRAT GNAT1 CNGB3 CACNA1F IFT172 RAB28 MVK REEP6 PRPF6 PDE6A BEST1 IMPG2 KIAA1549 SAG PRPH2 PEX7 GUCA1B CLRN1 PDE6G GNAT1 PDE6G COG4 GGCX GRK1 RBP3 ARL3 CA4 CRX TOPORS EYS PHYH IDH3B MFRP RDH12 PEX26 ADAM9 ZNF408 CACNA1F SCAPER MFN2 PITPNM3 SAG ARL2BP PRPH2 ROM1 RAX2 ATF6 CABP4 MYO7A RLBP1 PDE6B USH2A SAG USH1C CLRN1 PEX3 MMP19 POC1B PCYT1A PRPF3 TTPA WHRN OPN1MW PDE6B GRK1 FAM161A SLC7A14 SPATA7 KCNJ13 POMGNT1 SEMA4A NRL CYP4V2 SLC7A14 RLBP1 ABCA4 UNC119 PHYH RHO RDH5 PDZD7 AGBL5 FSCN2 MYO7A TRPM1 RHO CACNA2D4 RPGR PEX1 HADHA PEX13 BEST1 AIPL1 CRX GUCY2D RP1 DRAM2 RPE65 GUCY2D CABP4 TRPM1 PRPF8 CNNM4 PROM1 RBP3 CNGB1 MAK PRPF4 ZNF513 RBP3 IMPDH1 LRAT RDH5 AHI1 IFT140 GPR179 OPN1LW CHM CFAP410 GUCY2D SAG KCNV2 GNAT1 PEX2 CDH23 CNGB1 OFD1 PCDH15 HSD3B7 USH1G ADGRV1 MERTK ARL6 LRIT3 HARS1 PEX16 TRAPPC9 PEX11B GRM6 CDHR1 ARSG PEX5 CNGA1 DHDDS ZNF408 DRAM2 CACNA2D4 REEP6 CFAP410 RHO TULP1 EYS KIZ CRX PEX12 NYX C8ORF37 RGR AGBL5 RPGR AHR PRPF8 DHX38 IDH3A POU3F4 NEK2 NR2E3 CNGA3 MAK PROM1 RHO BBS2 PEX6 RLBP1 GUCA1A ITM2B RP9 PRPF3 CRX KLHL7 ELOVL4 TRNT1 STIM1 ABCA4 RLBP1 C8ORF37 AIPL1 CRB1 AIPL1 CEP78 GRM6 NR2E3 PEX19 VPS13B CDHR1 NMNAT1 CERKL NRL OAT GUCA1A BBS4 CDHR1 GNB3 PROM1 GNB3 HBB USH2A ABCA4 CHM RIMS1 RP2 NYX IMPDH1 PRPF31 CLRN1 IFT172 PRCD SLC24A1 MYO6 FAM161A SLC24A1 RPE65 RP1L1 CACNA1F PDE6H PRPH2 RPGRIP1 ROM1 ARHGEF18 LRIT3 PEX10 CIB2 PRPF4 PEX14 CA4 TUB ARL3 C1QTNF5 NMNAT1 TTC8 SEMA4A ARL3 ROM1 LRAT HK1 C8ORF37 RDH11 BEST1 NR2E3 RP9 PEX7 RHO TULP1 SNRNP200 IFT88 SPATA7 PRPH2 PCARE ESPN TULP1 PCARE PRPH2 FSCN2 AP3D1 MERTK PDE6B GPR179 ZNF513 RLBP1 CNGA1 CWC27 RHO HGSNAT IMPG2 HGSNAT POMGNT1 TTC8 PRPH2 FLVCR1 PRPF31 PRPH2 FGFR2 ARL6 FLVCR1 ARHGEF18 CNGA1 C8ORF37 RP1 CLRN1 AHR TRNS2 SEMA4A ABCA4 PRPH2 PDE6A CRB1 RP2 CLRN1
Protein Mutations 1
S100A