@article{4a4df775a33d4116926452a6e2d6fe51,
title = "Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA",
abstract = "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.",
author = "Wiggs, {Janey L.} and Kang, {Jae Hee} and Yaspan, {Brian L.} and Mirel, {Daniel B.} and Cathy Laurie and Andrew Crenshaw and Wendy Brodeur and Stephanie Gogarten and Olson, {Lana M.} and Wael Abdrabou and Elizabeth Delbono and Stephanie Loomis and Haines, {Jonathan L.} and Pasquale, {Louis R.}",
note = "Funding Information: This project was supported by grants to Pasquale (NHGRI U01HG004728; NEI R01EY015473; NCI CA87969, CA49449, CA055075; Research to Prevent Blindness Physician Scientist Award; the Margolis Fund (shared with J.L.W.) and J.L.W. (NEI R01EY015872). Genotyping was performed at the Broad Institute of MIT and Harvard, with funding support from the NIH GEI (U01HG04424). The GENEVA Coordinating Center (U01HG004446) provided assistance with genotype cleaning.",
year = "2011",
month = dec,
doi = "10.1093/hmg/ddr382",
language = "English",
volume = "20",
pages = "4707--4713",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "23",
}