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(Investigative Ophthalmology and Visual Science. 2006;47:2542-2546.)
© 2006 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.05-1476
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Distribution of WDR36 DNA Sequence Variants in Patients with Primary Open-Angle Glaucoma

Michael A. Hauser,1 R. Rand Allingham,2 Kevin Linkroum,3 Jun Wang,1 Karen LaRocque-Abramson,1 Dayse Figueiredo,3 Cecilia Santiago-Turla,1 Elizabeth A. del Bono,3 Jonathan L. Haines,4 Margaret A. Pericak-Vance,1 and Janey L. Wiggs3

1From the Center for Human Genetics and 2Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina; the 3Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts; and the 4Center for Human Genetics, Vanderbilt University School of Medicine, Nashville, Tennessee.

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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