SNPMiner Trials by Shray Alag


SNPMiner Trials: SNP Report


Report for SNP rs4588

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 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 Hepatitis C Hepatitis, Chronic Hepatitis C, 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

2 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: Body Weight Birth Weight Vitamin D Deficiency Bronchopulmonary Dysplasia Vitamin A Deficiency Night Blindness Vitamin E Deficiency
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

3 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


HPO Nodes


Low levels of vitamin D
Genes 8
ACOX2 MST1 RPL11 FARSB OCRL GPR35 RPS10 TCF4
Low levels of vitamin E
Genes 5
MST1 TTPA GPR35 SLC30A10 TCF4
Low levels of vitamin A
Genes 5
MST1 FARSB GPR35 TCF4 BCO1
Chronic hepatitis
Genes 11
KRT8 ALMS1 RFXANK C4B KRT18 CIITA AIRE IL21R RFX5 RFXAP CD40LG
Nyctalopia
Genes 186
SPATA7 CYP4V2 WHRN CERKL RPGRIP1 PRPF31 CACNA1F PCYT1A LRAT IFT140 BEST1 ARL2BP NR2E3 MAK CIB2 AHI1 ABCA4 PDE6A HK1 PDE6G PDE6H IMPDH1 OFD1 NMNAT1 NRL MYO6 PDE6B MYO7A IFT172 KCNV2 KIZ ADAM9 CDHR1 TTLL5 FLVCR1 PEX3 DHX38 RBP3 HGSNAT OPN1LW PEX1 KIAA1549 PEX6 BBS2 PEX7 RDH5 PEX10 RDH12 POMGNT1 CDH23 BBS4 PEX12 PRPH2 PEX13 DHDDS ARHGEF18 PEX14 PCARE OAT POU3F4 PDZD7 DRAM2 PRPF6 ADGRV1 NYX OPN1MW IDH3B AGBL5 PEX11B CHM MFRP PRPF8 USH1C GRM6 RAX2 TTPA RGR TUB LRIT3 SLC7A14 GGCX GPR179 ARSG PEX26 TULP1 RHO CRB1 GRK1 CRX RLBP1 ELOVL4 STIM1 ARL6 UNC119 CNNM4 TTC8 PROM1 ATF6 NEK2 HSD3B7 PHYH EYS ARL3 RAB28 CACNA2D4 TRNT1 SAG COX1 COX2 CEP78 GUCA1A COX3 GUCA1B IFT88 KLHL7 PRPF4 PRPF3 REEP6 FAM161A USH1G CABP4 ZNF408 ND1 GUCY2D KCNJ13 ND4 CNGB3 ND5 POC1B ND6 SCAPER PEX19 PEX16 PCDH15 FSCN2 AIPL1 PITPNM3 AHR PEX2 PRCD PEX5 MFN2 TRNF ROM1 TRPM1 TRNH RP9 RP1 HADHA RP2 C1QTNF5 FGFR2 TRNL1 RPGR RIMS1 SEMA4A C8ORF37 GNAT1 HARS TRNQ MERTK TRNS1 TRNS2 GNB3 TOPORS TRNW SLC24A1 HBB ITM2B MMP19 USH2A RPE65 CLRN1 CNGB1 CNGA1 SNRNP200 CNGA3 AP3D1 COG4 TRAPPC9 VPS13B CFAP410 MVK CA4 IMPG2 ZNF513
Hepatitis
Genes 74
TTC7A MST1 TRAF3IP2 TPP2 TBX19 IL12A MET IL12RB1 RASGRP1 TCF4 HSD3B7 KRT8 SERPINA1 TCF3 VIPAS39 ATP7A IGF2R MMEL1 ATP7B ALMS1 SPIB KRT18 VPS33B CIITA PDGFRL PIK3CA GPR35 CYP7A1 GUSB PIK3R1 AMACR RFXANK SHPK IGHM PIEZO1 SLC25A15 BTK IL21R CD40LG BLNK GLIS3 APC CLEC7A AIRE LRRC8A CASP8 POU2AF1 XIAP CASP10 C1S CYP7B1 PRKCD CD79A CD79B IRF5 C4B IL17RC IL17RA IGLL1 CTNNB1 FAS SKIV2L FASLG SH2D1A RFX5 IL17F RFXAP TNFSF15 TNPO3 PGM1 STAT1 TP53 AXIN1 FOXP3