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

Lana VerkuilIan DanfordMaxwell PistilliDavid W CollinsHarini V GudisevaBen T TrachtmanJie HeSonika RathiNaqi HaiderGui-Shuang YingVenkata Ramana Murthy ChavaliJoan Marie O'Brien

Published in: The British journal of ophthalmology (2019)

Our results demonstrate that a SNP downstream of TMCO1, rs4657473, is associated with POAG in an AA population. Our studies suggest a regulatory role for the previously POAG-associated locus near the TMCO1 gene that may affect gene expression.

Keyphrases

genome wide
gene expression
dna methylation
copy number
high density
transcription factor
genetic diversity
case control
genome wide identification
genome wide association study