SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for SNP rs1410996

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 A Multicenter Study on the Investigation of Previously Verified Leading Gene Polymorphisms Related to Age-related Macular Degeneration in Turkish Population

The purpose of this study is to determine whether common genetic polymorphisms that have been verified to be related to age-related macular degeneration (AMD) in some populations are also associated with AMD in Turkish population

NCT02248324 Age-related Macular Degeneration
MeSH: Macular Degeneration

The gen variants mostly studied in relation to AMD are CFH (rs1061170 and rs1410996), LOC387715/ARMS-2 (A69S /rs10490924), HTRA-1 (rs11200638), C3 (R102G/ rs2230199), C2 E318D (rs9332739), and CFB R32Q (rs641153).

In the introduced projects study, the relationship of eight different gen polymorphisms (CFH rs1061170 and rs1410996, LOC387715 / ARMS2 gene rs10490924, C2 gene rs9332739, CFB gene rs641153, CFI rs10033900 , HTRA-1 gene rs11200638, C3 rs2230199) will be studied in 2800 patients with high risk intermediate and late stage AMD and 2200 age-matched control subjects.

Primary Outcomes

Description: Gene polymorphisms of 8 region with identification of homozygous, heterozygote and wild type genotyping and alleles

Measure: rate of homozygous, heterozygous or wild type genotype and allels

Time: at the end of third years

Secondary Outcomes

Measure: Odds ratios for each genotyping in healthy elderly controls and patients with age related macular degeneration

Time: at the end of third years

Other Outcomes

Measure: Odds ratios for various combinations of gene regions between healthy elderly control and patients with age related macular degeneration

Time: at the end of third years

2 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