HTRA1 polymorphism in dry and wet age-related macular degeneration.
OBJECTIVE
To investigate HTRA1 polymorphisms in unrelated Taiwan Chinese patients with age-related macular degeneration (AMD) and control subjects without AMD.


METHODS
A total of 95 unrelated Taiwan Chinese patients with AMD and 90 age- and sex-matched control subjects were enrolled in the study. Genomic DNA was prepared from peripheral blood obtained from all patients with AMD and control subjects. Polymerase chain reactions were used to analyze two HTRA1 single-nucleotide polymorphisms (rs11200638 [G/A] and rs10490924 [G/T]).


RESULTS
Of the 95 participants with AMD, dry AMD was diagnosed in 52 patients and wet AMD in 43 patients. Both rs11200638 (G/A) and rs10490924 (G/T) were significantly associated with all AMD (rs11200638: P = 6.7 x 10(-7) for an additive allele-dosage model, OR(het) = 1.97 [0.81, 4.81], OR(hom) = 8.59 [3.28, 22.49], A allele: 73% in all AMD versus 47% in controls; rs10490924: P = 9.2 x 10(-6), OR(het) = 1.86 [0.79, 4.35], OR(hom) = 5.08 [2.21, 11.70], T allele: 73% in all AMD versus 50% in controls). In terms of significance of association, rs11200638 was the most significantly associated variant. Subtype analysis including dry and wet AMD also revealed similar results. Haplotype analysis demonstrated that AT was significantly associated with wet and all AMD (P = 0.011 and 0.004, respectively), whereas GG was significantly associated with the control group when compared with all AMD (P = 0.035).


CONCLUSIONS
The study demonstrated that both single-nucleotide polymorphisms were significantly associated with dry and wet AMD and rs11200638 was the most significantly associated variant in a Taiwan Chinese population.
Lin
Jane-Ming
JM
Department of Ophthalmology, China Medical University Hospital, Taichung, Taiwan.
Wan
Lei
L
Tsai
Yi-Yu
YY
Lin
Hui-Ju
HJ
Tsai
Yushin
Y
Lee
Cheng-Chun
CC
Tsai
Chang-Hai
CH
Tsai
Fuu-Jen
FJ
Tseng
Sung-Huei
SH
D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000208:ethnology; D020256:Choroidal Neovascularization / Q000208:ethnology / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006801:Humans; D008268:Macular Degeneration / Q000208:ethnology / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012697:Serine Endopeptidases / Q000235:genetics*; D013624:Taiwan / Q000453:epidemiology
D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases