SNPMiner Trials by Shray Alag


SNPMiner Trials: SNP Report


Report for SNP rs4151667

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 The Association of the Peripheral Retinal Changes and Genotypic Changes in Patients With Age Related Macular Degeneration

Purpose: To examine the genotypes associated with the peripheral retinal phenotypic features in patients with age-related macular degeneration documented with wide-field imaging. Design: Clinic-based case series study in Croatia. Participants: 160 patients >50 years of age known to have early or advanced AMD and 150 subjects >50 years of age without known AMD (controls) Methods: Both groups of patients were examined with ophthalmoscopy and OCT to confirm their classification. Posterior and peripheral fundus features were documented with Optos wide-field imaging (Optos P200MA, Optos Plc, Dunfermline, Scotland) and graded. DNA was extracted from blood samples and gene polymorphisms were evaluated for complement factor H (CFH) rs1061170 and rs1410996, age-related maculopathy susceptibility (ARMS2) rs10490924, high temperature requirement factor A1 (HtrA1) rs11200638, complement factor B (CFB) rs4151667 and rs641153, complement factor 2 (C2) rs9332739 and rs547154 and complement factor 3 (C3) rs2230199.

NCT03492853 Peripheral Retinal Degenerations, Age Related Macular Degeneration Polymorphisms Genetic: DNA extraction and sequencing
MeSH: Macular Degeneration Retinal Degeneration
HPO: Retinal atrophy Retinal degeneration

DNA was extracted from blood samples and gene polymorphisms were evaluated for complement factor H (CFH) rs1061170 and rs1410996, age-related maculopathy susceptibility (ARMS2) rs10490924, high temperature requirement factor A1 (HtrA1) rs11200638, complement factor B (CFB) rs4151667 and rs641153, complement factor 2 (C2) rs9332739 and rs547154 and complement factor 3 (C3) rs2230199.

Primary Outcomes

Description: the association between those two parameters

Measure: the association of the peripheral retina changes and genotyping

Time: 2 years


HPO Nodes


Retinal atrophy
Genes 63
WDR19 RLBP1 ELOVL4 POMT2 PRPF31 PROM1 IFT140 ATF6 BEST1 ARL2BP TRNT1 ABCA4 HK1 PDE6C PDE6H STUB1 HLA-A CEP78 GUCA1A NRL REEP6 FKTN FKRP KCNV2 SH3BP2 VCAN GUCY2D DHX38 CNGB3 MAPKAPK3 LAMA1 RBP4 HGSNAT AIPL1 GBA RDH5 POMGNT1 PRPH2 MIR204 DRAM2 RP9 RPGR POMT1 C8ORF37 GNAT2 MERTK ALDH3A2 MFRP TOPORS CTSD RAX2 RS1 RGR TUB SNRNP200 SLC7A14 CNGA3 PLK4 TNFRSF11B RHO CRX SIX6 LARGE1