LOXL1 promoter haplotypes are associated with exfoliation syndrome in a U.S. Caucasian population.

ABSTRACT:

Purpose

LOXL1 is a major genetic risk factor for exfoliation syndrome (ES) and exfoliation glaucoma (EG). Recent evidence documenting reversal of risk alleles for the disease-associated missense variants R141L and G153D suggests that these variants are not causative and that they may be proxies for other unknown functional LOXL1 variants. The purpose of this study was to investigate the disease association of LOXL1 variants spanning the gene region, including the 5' and 3' regulatory regions, in a U.S. Caucasian case-control sample.

Methods

Twenty-five LOXL1 single-nucleotide polymorphisms (SNPs), distributed throughout the gene, were genotyped in 196 Caucasian patients with ES/EG and 201 matched controls. Genotype data were analyzed for single SNP associations, SNP interact

SUBMITTER: Fan BJ 

PROVIDER: S-EPMC3081229 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature