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Report for SNP rs10766197

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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


Low levels of vitamin D
Genes 8
RPL11 MST1 RPS10 TCF4 OCRL ACOX2 FARSB GPR35
Low levels of vitamin E
Genes 5
TTPA MST1 TCF4 SLC30A10 GPR35
Low levels of vitamin A
Genes 5
MST1 TCF4 BCO1 FARSB GPR35
Nyctalopia
Genes 313
SNRNP200 PDE6A IDH3A PHYH ABCA4 ZNF408 CNGB3 GUCA1A SEMA4A AP3D1 PEX7 IMPG2 CABP4 RHO PCARE RHO CACNA1F RP1 RDH5 POU3F4 IFT88 PDE6B RGR ZNF513 ATF6 SLC7A14 TTC8 COG4 PROM1 CHM ND4 REEP6 POMGNT1 NEK2 CA4 RHO CA4 LRIT3 GRM6 RLBP1 RHO PDE6H SCAPER PCARE TRNS2 AGBL5 RLBP1 HK1 TRNT1 SNRNP200 BBS4 CRB1 EYS TRNQ C8ORF37 SLC24A1 DRAM2 PRPF4 ARL3 CRX ARL6 RDH12 TRPM1 RBP3 IFT172 PRPH2 ARL3 RP1 AIPL1 RLBP1 CACNA2D4 PRPH2 SPATA7 NR2E3 PEX7 SEMA4A ARL2BP AHR FLVCR1 SLC24A1 PRPF31 GUCA1A PRCD RLBP1 RPE65 CABP4 CDH23 POC1B UNC119 PRPH2 LRAT PITPNM3 CDHR1 DHDDS CDHR1 NMNAT1 C1QTNF5 TRNF IFT140 GRM6 OPN1MW PEX5 CLRN1 RP2 REEP6 PRPF4 CEP78 MMP19 PRPH2 FSCN2 CNGA1 FGFR2 TULP1 TRAPPC9 ROM1 BBS2 CFAP410 PRPF3 RHO AIPL1 PRPF31 PDE6G ITM2B MAK RPGRIP1 PRPH2 LRAT CACNA1F NMNAT1 CRX GRK1 PRPF8 VPS13B GUCA1B PEX26 POMGNT1 ND6 CERKL CLRN1 KIAA1549 CRB1 CNGA1 PEX13 PEX12 OPN1LW TOPORS GNAT1 USH2A ND5 OAT CNGA3 RAB28 PEX3 CWC27 CFAP410 USH2A IMPDH1 USH1G ABCA4 C8ORF37 FLVCR1 CLRN1 LRAT TRNH NR2E3 PRPF6 ZNF408 ADAM9 PEX6 PRPH2 PROM1 RAX2 HGSNAT ARL3 RP2 PRPH2 SEMA4A BEST1 HADHA TRNL1 PDZD7 IDH3B C8ORF37 CLRN1 TUB GRK1 MYO7A DRAM2 RHO ABCA4 PEX2 PROM1 KCNV2 RP9 CHM PEX10 CACNA1F ZNF513 TRNS2 ARHGEF18 CRX RP9 GNB3 MFN2 CYP4V2 PDE6A KLHL7 RBP3 OAT C8ORF37 NRL MYO7A EYS TULP1 RDH5 RBP3 NR2E3 TRNS1 SAG PEX11B NYX RPE65 MAK AHI1 IMPDH1 MFRP HARS1 RPGR BEST1 AGBL5 TTC8 TULP1 CRX CNNM4 DHX38 USH1C KCNJ13 COX1 AIPL1 FAM161A TTLL5 ELOVL4 SAG NRL STIM1 HSD3B7 GNAT1 CLRN1 PCYT1A TRPM1 SAG ND1 IMPG2 ARSG CACNA2D4 GNB3 SEMA4A PRPF3 TRNW GPR179 CNGB1 COX3 TTPA PEX14 GUCY2D ABCA4 GNAT1 PDE6B ADGRV1 PEX1 PEX16 RIMS1 AHR CIB2 KIZ ROM1 COX2 PCDH15 WHRN GPR179 BEST1 ARL6 RLBP1 PROM1 SPATA7 HBB PHYH PRPH2 MERTK PEX19 NYX GUCY2D PDE6B MERTK SLC7A14 ROM1 PDE6G CDHR1 ARHGEF18 SAG FAM161A GGCX MVK MYO6 OFD1 FSCN2 IFT172 PRPF8 HGSNAT RPGR CNGB1 LRIT3 GUCY2D