SNPMiner Trials by Shray Alag

rs12979860 (38) rs6971 (31) rs9939609 (11) rs6265 (11) rs738409 (11) rs7903146 (8) rs4680 (8) rs8099917 (8) rs11200638 (6) rs429358 (6) rs10490924 (6) rs7412 (6) rs16969968 (5) rs25531 (5) rs1801133 (5) rs1800497 (5) rs1799971 (4) rs4244285 (4) rs2832407 (4) rs1045642 (4) rs1544410 (4) rs10033464 (3) rs1761667 (3) rs6166 (3) rs1042713 (3) rs2023239 (3) rs1051730 (3) rs174537 (3) rs1006737 (3) rs2230199 (3) rs1128503 (3) rs2231142 (3) rs10455872 (3) rs6313 (3) rs1061170 (3) rs776746 (3) rs4588 (3) rs2069514 (2) rs1799963 (2) rs9332739 (2) rs2032582 (2) rs3745274 (2) rs6295 (2) rs12936231 (2) rs6280 (2) rs7103572 (2) rs35599367 (2) rs13266634 (2) rs1410996 (2) rs6025 (2) rs4129267 (2) rs70991108 (2) rs174547 (2) rs1127354 (2) rs362331 (2) rs53576 (2) rs35705950 (2) rs641153 (2) rs1695 (2) rs2234246 (2) rs10741657 (2) rs1800955 (2) rs2106261 (2) rs4149056 (2) rs2234237 (2) rs362307 (2) rs3808607 (2) rs1828591 (2) rs1800470 (2) rs1024611 (2) rs12785878 (2) rs3751143 (2) rs762551 (2) rs165599 (2) rs2200733 (2) rs1150226 (2) rs4646 (2) rs3798220 (2) rs3813929 (2) rs25487 (2) rs10830963 (2) rs2472677 (2) rs2281135 (2) rs4986893 (2) rs3211938 (2) rs8050136 (2) rs1801131 (2) rs855791 (2) rs5219 (2) rs4646437 (2) rs2228570 (2) rs2070744 (1) rs1017783 (1) rs4986938 (1) rs2297201 (1) rs377637047 (1) rs2298771 (1) rs1799724 (1) rs7799039 (1) rs7041 (1) rs7586970 (1) rs8175347 (1) rs1799853 (1) rs1799732 (1) rs6190 (1) rs9344 (1) rs3918242 (1) rs7549785 (1) rs3796529 (1) rs10835211 (1) rs3570920 (1) rs1998199 (1) rs2274333 (1) rs78408340 (1) rs28363170 (1) rs2987983 (1) rs833069rs (1) rs41524547 (1) rs12529 (1) rs1042522 (1) rs11958940 (1) rs34743033 (1) rs13058338 (1) rs2043211 (1) rs5082 (1) rs6739405 (1) rs4958351 (1) rs6296 (1) rs3761624 (1) rs13333226 (1) rs179008 (1) rs4802703 (1) rs547154 (1) rs7521902 (1) rs867186 (1) rs641738 (1) rs2540923 (1) rs2297480 (1) rs1672717 (1) rs4869676 (1) rs10163409 (1) rs4869675 (1) rs236114 (1) rs6165 (1) rs700518 (1) rs11615 (1) rs3025039 (1) rs11795404 (1) rs3816527 (1) rs999737 (1) rs10836235 (1) rs1256049 (1) rs27072 (1) rs614367 (1) rs12434438 (1) rs137852620 (1) rs3853445 (1) rs35874116 (1) rs3747158 (1) rs1799930 (1) rs20432111 (1) rs5068 (1) rs1310182 (1) rs7604448 (1) rs20455 (1) rs1042714 (1) rs3114018 (1) rs2269273 (1) rs6269 (1) rs1042711 (1) rs2269272 (1) rs861529 (1) rs18011131 (1) rs9340799 (1) rs2235046 (1) rs316019 (1) rs10995190 (1) rs1260326 (1) rs4570625 (1) rs1042718 (1) rs2250656 (1) rs731236 (1) rs2307227 (1) rs41524745 (1) rs6841581 (1) rs1049353 (1) rs244072 (1) rs13208321 (1) rs35463555 (1) rs1052533 (1) rs3918226 (1) rs61747728 (1) rs4073 (1) rs904627 (1) rs2295190 (1) rs2053044 (1) rs10153820 (1) rs754203 (1) rs547987105 (1) rs2562582 (1) rs2494732 (1) rs619824 (1) rs8176528 (1) rs1360780 (1) rs833061 (1) rs16147 (1) rs72552763 (1) rs9679162 (1) rs2280964 (1) rs7975232 (1) rs1726866 (1) rs10813831 (1) rs6504950 (1) rs806380 (1) rs6856901 (1) rs45511401 (1) rs573562920 (1) rs3210140 (1) rs887829 (1) rs7221412 (1) rs628031 (1) rs20417 (1) rs2687133 (1) rs7579240 (1) rs174535 (1) rs679620 (1) rs2060793 (1) rs806377 (1) rs1800629 (1) rs66554220 (1) rs1800624 (1) rs3750920 (1) rs1042522s (1) rs10246939 (1) rs2550946 (1) rs2279744 (1) rs909253 (1) rs2071559 (1) rs1024582 (1) rs10930214 (1) rs13387042 (1) rs17601696 (1) rs2046210 (1) rs8065080 (1) rs4604006 (1) rs2002555 (1) rs757110 (1) rs2910164 (1) rs1061325 (1) rs4950928 (1) rs10994336 (1) rs11548193 (1) rs73049 (1) rs9457827 (1) rs1883112 (1) rs17782313 (1) rs12459419 (1) rs150018775 (1) rs708272 (1) rs2275163 (1) rs12762549 (1) rs10941679 (1) rs699947 (1) rs2895795 (1) rs2697153 (1) rs45500792 (1) rs30461 (1) rs550842646 (1) rs2067085 (1) rs1051931 (1) rs333 (1) rs3853839 (1) rs956572 (1) rs4900442 (1) rs3755166 (1) rs324015 (1) rs271924 (1) rs3758673 (1) rs3758674 (1) rs11572080 (1) rs4151667 (1) rs894278 (1) rs10859871 (1) rs2294918 (1) rs933226 (1) rs9657182 (1) rs571312 (1) rs20715592 (1) rs12201199 (1) rs1786378374 (1) rs13376333 (1) rs17070145 (1) rs17561 (1) rs34489327 (1) rs7571842 (1) rs11133360 (1) rs2235321 (1) rs678849 (1) rs8069645 (1) rs35059413 (1) rs6454674 (1) rs2853884 (1) rs737865 (1) rs183489969 (1) rs7333181 (1) rs1143623 (1) rs71647871 (1) rs4149032 (1) rs17037122 (1) rs1062613 (1) rs2516513 (1) rs1048661 (1) rs11126727 (1) rs11568821 (1) rs1049524 (1) rs11568820 (1) rs1049522 (1) rs172378 (1) rs10994133 (1) rs924607 (1) rs2488457 (1) rs1143633 (1) rs11039155 (1) rs1143634 (1) rs2464266 (1) rs396991 (1) rs562696473 (1) rs11126731 (1) rs8105790 (1) rs10509681 (1) rs12041331 (1) rs1805010 (1) rs6013897 (1) rs16139 (1) rs2234693 (1) rs35652124 (1) rs4693608 (1) rs961360700 (1) rs2305948 (1) rs4343 (1) rs5743844 (1) rs4883263 (1) rs10033900 (1) rs4883264 (1) rs2243250 (1) rs2241193 (1) rs17614942 (1) rs2383206 (1) rs1800592 (1) rs613872 (1) rs4803217 (1) rs11031006 (1) rs1047768 (1) rs12208357 (1) rs4488809 (1) rs1800588 (1) rs2227902 (1) rs1549339 (1) rs3184504 (1) rs2248949 (1) rs222797 (1) rs1643649 (1) rs4803455 (1) rs2853564 (1) rs780094 (1) rs2231137 (1) rs6434222 (1) rs3825942 (1) rs112735431 (1) rs751402 (1) rs9701796 (1) rs1202167 (1) rs1202168 (1) rs1202169 (1) rs12472215 (1) rs4311 (1) rs2279238 (1) rs3766404 (1) rs7349683 (1) rs3781727 (1) rs1800450 (1) rs7157609 (1) rs529802001 (1) rs2257401 (1) rs3817198 (1) rs1217414 (1) rs1045485 (1) rs2278392 (1) rs2476601 (1) rs7993418 (1) rs13181 (1) rs4673 (1) rs2097432 (1) rs324011 (1) rs1079598 (1) rs1800566 (1) rs1800682 (1) rs603965 (1) rs993607 (1) rs1790349 (1) rs1044396 (1) rs3742376 (1) rs6592052 (1) rs9332377 (1) rs16111115 (1) rs11559024 (1) rs1149222 (1) rs11870474 (1) rs25331 (1) rs2929116 (1) rs2929115 (1) rs7961953 (1) rs2242480 (1) rs4532 (1) rs222747 (1) rs105173 (1) rs2165241 (1) rs1800795 (1) rs2075606 (1) rs11648486 (1) rs35874116rs (1) rs4795541 (1) rs2282679 (1) rs7853758 (1) rs1504982 (1) rs1176713 (1) rs11249433 (1) rs12467815 (1) rs10524523 (1) rs4880 (1) rs12760457 (1) rs2062305 (1) rs3828057 (1) rs3790515 (1) rs11687951 (1) rs1800896 (1) rs254093 (1) rs4994 (1) rs4633 (1) rs1885988 (1) rs11099592 (1) rs6843082 (1) rs17611 (1) rs2228171 (1) rs1042173 (1) rs41432149 (1) rs926198 (1) rs12992677 (1) rs2305619 (1) rs1800888 (1) rs61729512 (1) rs2266782 (1) rs1653624 (1) rs664393 (1) rs2246704 (1) rs11959427 (1) rs4848306 (1) rs3765467 (1) rs2246709 (1) rs2089760 (1) rs2180439 (1) rs2242447 (1) rs2981582 (1) rs12654788 (1) rs5275 (1) rs1053230 (1) rs1906591 (1) rs2010963 (1) rs11102930 (1) rs2601126 (1) rs2854116 (1) rs2854117 (1) rs16944 (1) rs17778257 (1) rs16942 (1) rs1801282 (1) rs5751876 (1) rs762251 (1) rs3803662 (1) rs10264272 (1) rs28399433 (1) rs230561 (1) rs12654778 (1) rs4364254 (1) rs10177833 (1) rs2238071 (1) rs1801275 (1) rs10766197 (1) rs704010 (1) rs10937405 (1) rs2228480 (1) rs9526240 (1) rs17570669 (1) rs10407022 (1) rs4612666 (1) rs6746030 (1) rs889312 (1) rs243866 (1) rs2740565 (1) rs1558902 (1) rs8192620 (1) rs10865801 (1) rs58542926 (1) rs3789604 (1) rs1801260 (1) rs2273773 (1) rs10757274 (1) rs573112 (1) rs2244613 (1) rs10757278 (1) rs6330 (1) rs1056892 (1) rs11931074 (1) rs2075252 (1) rs1297860 (1) rs28459296 (1) rs2380205 (1) rs780094s (1) rs9557195 (1) rs11045585 (1) rs1801253 (1) rs1801132 (1) rs11569562 (1) rs2104772 (1) rs15524 (1) rs2854275 (1) rs2066842 (1) rs12255372 (1) rs6323 (1) rs1057910 (1) rs1051375 (1) rs544684689 (1) rs2234237r25r (1) rs6318 (1) rs9826 (1) rs7120118 (1) rs12356193 (1) rs8111699 (1) rs7270101 (1) rs17042171 (1) rs1062033 (1) rs553668 (1) rs185670819 (1) rs1405655 (1) rs6311 (1) rs518147 (1) rs10401969 (1) rs4516035 (1) rs33996649 (1) rs10276036 (1) rs1465952 (1) rs2232618 (1) rs549927573 (1) rs41308230 (1) rs2293152 (1) rs2237060 (1) rs5215 (1) rs4820059 (1) rs12329760 (1) rs12676 (1) rs11083519 (1) rs16874954 (1) rs35597368 (1) rs1799983 (1) rs5573 (1) rs2229774 (1) rs2731886 (1) rs5574 (1) rs2302616 (1) rs12221497 (1) rs4973768 (1) rs5569 (1) rs2032892 (1) rs13281615 (1) rs4820268 (1) rs10079250 (1) rs1799750 (1) rs9366637 (1) rs4148738 (1) rs10456542 (1) rs25648 (1) rs9984723 (1) rs766996587 (1) rs2398162 (1) rs7291050 (1) rs1011970 (1) rs4253728 (1) rs12143842 (1)

SNPMiner SNPMiner Trials (Home Page)


Report for SNP rs4588

Developed by Shray Alag, 2020-2021.
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
Conditions
  1. Vitamin D Deficiency
Interventions
  1. Dietary Supplement: Placebo
  2. 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
Conditions
  1. Chronic Hepatitis C
Interventions
  1. 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
Conditions
  1. Vitamin A Deficiency
  2. Vitamin D Deficiency
  3. Vitamin E Deficiency
  4. Very Low Birth Weight Infants
  5. Bronchopulmonary Dysplasia
  6. Anemia
  7. Sepsis
Interventions
  1. Drug: High dose of fat-Soluble Vitamin
  2. 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 314
MERTK RPGR PCDH15 GUCY2D TRNT1 RHO OAT FGFR2 ABCA4 PEX3 PEX6 AIPL1 DHX38 IFT172 GUCA1A PITPNM3 FLVCR1 SLC7A14 RPGR RP1 GRK1 ZNF513 ARL2BP PRCD SAG PDE6A RLBP1 RBP3 CNGB1 PRPH2 NEK2 ZNF408 TTPA STIM1 CABP4 CYP4V2 POMGNT1 TOPORS CLRN1 PRPF8 KIF3B REEP6 KCNJ13 IFT172 AGBL5 MAK COG4 PROM1 RBP3 ABCA4 UNC119 SAG CACNA1F MFN2 BBS2 SEMA4A TULP1 RLBP1 IFT140 GNAT1 ESPN SEMA4A IDH3A LRAT PDE6H NYX CLRN1 RAX2 AP3D1 CNGB3 SLC7A14 CNNM4 OFD1 ABCA4 IDH3A HARS1 C8ORF37 GNAT1 MERTK RLBP1 ELOVL4 TULP1 KIZ CACNA2D4 ZNF408 CNGA1 ARL3 RP2 POC1B TRAPPC9 RP9 SNRNP200 SAG FLVCR1 IMPG2 PRPH2 RP1 CNGA3 RHO RDH5 IDS PEX16 CACNA1F CABP4 NR2E3 TUB PDE6A PROM1 VPS13B EYS NRL RP9 IFT88 RHO C8ORF37 RBP3 ADAM9 ARL3 TULP1 GUCY2D RPGR PDE6B PEX12 FSCN2 CDHR1 MTTP ZNF513 TTLL5 CLRN1 PCARE CHM GPR179 RLBP1 SNRNP200 TRPM1 PRPH2 POMGNT1 GGCX PEX2 PEX10 PDE6G FAM161A ROM1 CEP78 RDH11 POU3F4 GNB3 GNB3 OPN1MW AHI1 TTC8 MVK RP1L1 PRPH2 RIMS1 RP1L1 CNGA1 PDE6B CRB1 IDH3B CNGA1 SPATA7 PEX26 BEST1 PRPH2 BEST1 TRNS2 C1QTNF5 CIB2 PCYT1A C8ORF37 RP2 HGSNAT ATF6 DRAM2 CACNA1F IMPDH1 OAT PRPF3 GUCA1B DHDDS GRM6 BEST1 TRPM1 REEP6 ABCA4 ARL6 CHM DRAM2 RPE65 OPN1LW ITM2B GUCY2D BBS4 HADHA NMNAT1 USH1C AGBL5 PEX13 RHO SPATA7 NR2E3 PCARE MAK MMP19 MFRP ROM1 ROM1 HK1 RHO ARHGEF18 HGSNAT PROM1 SAG GUCA1A ESPN AHR GRK1 FSCN2 CACNA2D4 PEX19 USH2A CA4 PDE6B PEX5 USH1G GPR179 PROM1 TTC8 GUCY2D IMPDH1 CRB1 PROM1 GRM6 CRX AIPL1 RGR AHR PRPF4 CDH23 KLHL7 IMPG2 SEMA4A USH2A CFAP410 LRAT WHRN NR2E3 KIAA1549 CERKL NMNAT1 SLC24A1 CA4 SCAPER CRX PEX14 KIAA1549 PRPF31 CRX AIPL1 PRPF6 FAM161A LRIT3 HSD3B7 PRPF8 MYO7A PRPF31 PEX11B RAB28 PRPF4 ARSG RDH5 ARHGEF18 PRPH2 PEX7 PDZD7 NRL LRAT PDE6G CDHR1 MYO6 CFAP410 RDH12 ARL6 CLCC1 PRPH2 PRPF3 RHO LRIT3 EYS PEX1 SEMA4A MYO7A ADGRV1 CDHR1 ARL3 PRPH2 CWC27 RLBP1 RNU4ATAC GNAT1 CRX RPGRIP1 C8ORF37 CNGB1 PEX7 CLRN1 PHYH NYX KCNV2 PHYH RPE65 IDS SLC24A1
Protein Mutations 1
S100A