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Abstract #47748 Published in IGR 13-4
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA
Wiggs JL; Kang JH; Yaspan BL; Mirel DB; Laurie C; Crenshaw A; Brodeur W; Gogarten S; Olson LM; Abdrabou WHuman Molecular Genetics 2011; 20: 4707-4713
Primary open-angle glaucoma (POAG) is a genetically complex common disease characterized by progressive optic nerve degeneration that results in irreversible blindness. Recently, a genome-wide association study (GWAS) for POAG in an Icelandic population identified significant associations with single nucleotide polymorphisms (SNPs) between the CAV1 and CAV2 genes on chromosome 7q31. In this study, we confirm that the identified SNPs are associated with POAG in our Caucasian US population and that specific haplotypes located in the CAV1/CAV2 intergenic region are associated with the disease. We also present data suggesting that associations with several CAV1/CAV2 SNPs are significant mostly in women. (copyright) The Author 2011. Published by Oxford University Press. All rights reserved.
J.L. Wiggs. Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, United States. Email: janey_wiggs@meei.harvard.edu
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)