SNPMiner Trials by Shray Alag


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Report for SNP rs547154

Developed by Shray Alag, 2020.
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 82
SNRNP200 FKTN MAPKAPK3 PRPH2 IMPDH1 CNGB3 MIR204 WDR19 GUCA1A ABCA4 ELOVL4 ATF6 RHO LAMA1 VCAN ARSG SIX6 SLC7A14 C8ORF37 RAX2 PROM1 LARGE1 RPGR PRPH2 REEP6 RPGR DHX38 PRPH2 CNGB3 PRPH2 RS1 PDE6C POMT1 GBA ALDH3A2 GUCY2D ABCA4 C8ORF37 PDE6H SH3BP2 HK1 TRNT1 TOPORS TNFRSF11B PRPF31 HLA-A CFHR3 PLK4 DRAM2 HMCN1 CFHR1 KCNV2 FKRP CRX ARL2BP PROM1 STUB1 POMGNT1 RP9 NRL AIPL1 CFI RLBP1 MERTK RDH5 APOE CNGA3 GUCA1A IFT140 POMT2 RGR ELOVL4 ATF6 CEP78 CTSD RBP4 TUB MFRP GNAT2 HGSNAT BEST1 GUCY2D