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

Publication ,  Journal Article
Hauser, MA; Allingham, RR; Linkroum, K; Wang, J; LaRocque-Abramson, K; Figueiredo, D; Santiago-Turla, C; del Bono, EA; Haines, JL; Wiggs, JL ...
Published in: Invest Ophthalmol Vis Sci
June 2006

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.

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Published In

Invest Ophthalmol Vis Sci

DOI

ISSN

0146-0404

Publication Date

June 2006

Volume

47

Issue

6

Start / End Page

2542 / 2546

Location

United States

Related Subject Headings

  • Sequence Analysis, DNA
  • Polymorphism, Single Nucleotide
  • Polymerase Chain Reaction
  • Pedigree
  • Ophthalmology & Optometry
  • Male
  • Introns
  • Intraocular Pressure
  • Humans
  • Glaucoma, Open-Angle
 

Citation

APA
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ICMJE
MLA
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Hauser, M. A., Allingham, R. R., Linkroum, K., Wang, J., LaRocque-Abramson, K., Figueiredo, D., … Wiggs, J. L. (2006). Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci, 47(6), 2542–2546. https://doi.org/10.1167/iovs.05-1476
Hauser, Michael A., R Rand Allingham, Kevin Linkroum, Jun Wang, Karen LaRocque-Abramson, Dayse Figueiredo, Cecilia Santiago-Turla, et al. “Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma.Invest Ophthalmol Vis Sci 47, no. 6 (June 2006): 2542–46. https://doi.org/10.1167/iovs.05-1476.
Hauser MA, Allingham RR, Linkroum K, Wang J, LaRocque-Abramson K, Figueiredo D, et al. Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2006 Jun;47(6):2542–6.
Hauser, Michael A., et al. “Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma.Invest Ophthalmol Vis Sci, vol. 47, no. 6, June 2006, pp. 2542–46. Pubmed, doi:10.1167/iovs.05-1476.
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. Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2006 Jun;47(6):2542–2546.

Published In

Invest Ophthalmol Vis Sci

DOI

ISSN

0146-0404

Publication Date

June 2006

Volume

47

Issue

6

Start / End Page

2542 / 2546

Location

United States

Related Subject Headings

  • Sequence Analysis, DNA
  • Polymorphism, Single Nucleotide
  • Polymerase Chain Reaction
  • Pedigree
  • Ophthalmology & Optometry
  • Male
  • Introns
  • Intraocular Pressure
  • Humans
  • Glaucoma, Open-Angle