SNPMiner Trials by Shray Alag


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Report for SNP rs9332739

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