SNP located in an <i>AluJb</i> repeat downstream of <i>TMCO1,</i> rs4657473, is protective for POAG in African Americans.

ABSTRACT:

Aims

To determine the association of single nucleotide polymorphisms (SNPs) downstream from the TMCO1 gene with primary open-angle glaucoma (POAG) in African Americans (AA).

Methods

AA subjects were recruited for the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study from the Scheie Eye Institute and its satellite sites in Philadelphia. A region containing an AluJb repeat and seven SNPs, including rs4656461 near the TMCO1 gene, were PCR-Sanger sequenced from POAAGG cases (n=1537) and controls (n=1570). Association between POAG and SNPs near TMCO1 was investigated by logistic regression analysis. Phenotypic trait associations with these SNPs were assessed by analysis of variance. Electrophoretic mobility shift assay (EMSA) was per

SUBMITTER: Verkuil L 

PROVIDER: S-EPMC6817700 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature