WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: analysis of gene-gene interactions.

ABSTRACT:

Purpose

To investigate the role of WDR36 and P53 sequence variations in POAG susceptibility.

Methods

The authors performed a case-control genetic association study in 268 unrelated Spanish patients (POAG1) and 380 control subjects matched for sex, age, and ethnicity. WDR36 sequence variations were screened by either direct DNA sequencing or denaturing high-performance liquid chromatography. P53 polymorphisms p.R72P and c.97-147ins16bp were analyzed by single-nucleotide polymorphism (SNP) genotyping and PCR, respectively. Positive SNP and haplotype associations were reanalyzed in a second sample of 211 patients and in combined cases (n = 479).

Results

The authors identified almost 50 WDR36 sequence variations, of which approximately two-thirds were rare and one-third w

SUBMITTER: Blanco-Marchite C 

PROVIDER: S-EPMC3208188 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature