Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration.
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.
Gibbs
Daniel
D
Department of Ophthalmology and Visual Science, Moran Eye Center, Building 533, Room 3160A, 15 North 2030 East, Salt Lake City, UT 84132, USA.
Yang
Zhenglin
Z
Constantine
Ryan
R
Ma
Xiang
X
Camp
Nicola J
NJ
Yang
Xian
X
Chen
Hayou
H
Jorgenson
Adam
A
Hau
Vincent
V
Dewan
Andrew
A
Zeng
Jiexi
J
Harmon
Jennifer
J
Buehler
Jeanette
J
Brand
John M
JM
Hoh
Josephine
J
Cameron
D Joshua
DJ
Dixit
Manjusha
M
Tong
Zongzhong
Z
Zhang
Kang
K
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*
D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases