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.
authors.affiliation: Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA. janey_wiggs@meei.harvard.edu
authors.forename: Janey L
authors.initials: JL
authors.lastname: Wiggs
authors.forename: Jae Hee
authors.initials: JH
authors.lastname: Kang
authors.forename: Brian L
authors.initials: BL
authors.lastname: Yaspan
authors.forename: Daniel B
authors.initials: DB
authors.lastname: Mirel
authors.forename: Cathy
authors.initials: C
authors.lastname: Laurie
authors.forename: Andrew
authors.initials: A
authors.lastname: Crenshaw
authors.forename: Wendy
authors.initials: W
authors.lastname: Brodeur
authors.forename: Stephanie
authors.initials: S
authors.lastname: Gogarten
authors.forename: Lana M
authors.initials: LM
authors.lastname: Olson
authors.forename: Wael
authors.initials: W
authors.lastname: Abdrabou
authors.forename: Elizabeth
authors.initials: E
authors.lastname: DelBono
authors.forename: Stephanie
authors.initials: S
authors.lastname: Loomis
authors.forename: Jonathan L
authors.initials: JL
authors.lastname: Haines
authors.forename: Louis R
authors.initials: LR
authors.lastname: Pasquale
mesh_terms: D000368:Aged; D051242:Caveolin 1 / Q000235:genetics*; D051243:Caveolin 2 / Q000235:genetics*; D021901:DNA, Intergenic / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007055:Iceland; D057066:Low Tension Glaucoma / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015203:Reproducibility of Results; D012727:Sex Characteristics; D015398:Signal Transduction; D014481:United States; D044465:White People / Q000235:genetics*
chemical_list: D051242:Caveolin 1; D051243:Caveolin 2; D021901:DNA, Intergenic