Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma.

Published

Journal Article

PURPOSE: To determine the distribution of WDR36 sequence variants in a cohort of patients with primary open-angle glaucoma (POAG) in the United States. METHODS: All of the 23 coding exons and flanking introns of the WDR36 gene were sequenced in 118 probands from families with at least two members affected by POAG, 6 probands from juvenile-onset POAG families, and 108 control individuals. RESULTS: Thirty-two WDR36 sequence variants were found in this population of patients with POAG. Nonsynonymous single-nucleotide polymorphisms (SNPs), including those previously described as "disease-causing" and "disease susceptibility," were found in 17% of POAG patients and 4% of control subjects. Although the distribution of WDR36 variants in the pedigrees did not show consistent segregation with the disease, the WDR36 sequence variants were found more frequently in patients with more severe disease. CONCLUSIONS: The results of this study suggest that abnormalities in WDR36 alone are not sufficient to cause POAG. The association of WDR36 sequence variants with more severe disease in affected individuals suggests that defects in the WDR36 gene can contribute to POAG and that WDR36 may be a glaucoma modifier gene.

Full Text

Duke Authors

Cited Authors

  • Hauser, MA; Allingham, RR; Linkroum, K; Wang, J; LaRocque-Abramson, K; Figueiredo, D; Santiago-Turla, C; del Bono, EA; Haines, JL; Pericak-Vance, MA; Wiggs, JL

Published Date

  • June 2006

Published In

Volume / Issue

  • 47 / 6

Start / End Page

  • 2542 - 2546

PubMed ID

  • 16723468

Pubmed Central ID

  • 16723468

Electronic International Standard Serial Number (EISSN)

  • 1552-5783

International Standard Serial Number (ISSN)

  • 0146-0404

Digital Object Identifier (DOI)

  • 10.1167/iovs.05-1476

Language

  • eng