title: Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration.
abstract: Age-related macular degeneration (AMD) is a complex disorder with genetic and environmental influences. The genetic influences affecting AMD are not well understood and few genes have been consistently implicated and replicated for this disease. A polymorphism (rs11200638) in a transcription factor binding site of the HTRA1 gene has been described, in previous reports, as being most significantly associated with AMD. In this paper, we investigate haplotype association and individual polymorphic association by genotyping additional variants in the AMD risk-associated region of chromosome 10q26. We demonstrate that rs11200638 in the promoter region and rs2293870 in exon 1 of HTRA1, are among the most significantly associated variants for advanced forms of AMD.
authors.affiliation: Department of Ophthalmology and Visual Science, Moran Eye Center, Building 533, Room 3160A, 15 North 2030 East, Salt Lake City, UT 84132, USA.
authors.forename: Daniel
authors.initials: D
authors.lastname: Gibbs
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
authors.forename: Ryan
authors.initials: R
authors.lastname: Constantine
authors.forename: Xiang
authors.initials: X
authors.lastname: Ma
authors.forename: Nicola J
authors.initials: NJ
authors.lastname: Camp
authors.forename: Xian
authors.initials: X
authors.lastname: Yang
authors.forename: Hayou
authors.initials: H
authors.lastname: Chen
authors.forename: Adam
authors.initials: A
authors.lastname: Jorgenson
authors.forename: Vincent
authors.initials: V
authors.lastname: Hau
authors.forename: Andrew
authors.initials: A
authors.lastname: Dewan
authors.forename: Jiexi
authors.initials: J
authors.lastname: Zeng
authors.forename: Jennifer
authors.initials: J
authors.lastname: Harmon
authors.forename: Jeanette
authors.initials: J
authors.lastname: Buehler
authors.forename: John M
authors.initials: JM
authors.lastname: Brand
authors.forename: Josephine
authors.initials: J
authors.lastname: Hoh
authors.forename: D Joshua
authors.initials: DJ
authors.lastname: Cameron
authors.forename: Manjusha
authors.initials: M
authors.lastname: Dixit
authors.forename: Zongzhong
authors.initials: Z
authors.lastname: Tong
authors.forename: Kang
authors.initials: K
authors.lastname: Zhang
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002874:Chromosome Mapping / Q000379:methods; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012697:Serine Endopeptidases / Q000235:genetics*
chemical_list: D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases