Association of HTRA1 polymorphism and bilaterality in advanced age-related macular degeneration

• DOI: 10.1016/j.visres.2007.10.014
• Publication Date: 2008-02-13T14:46:52Z
• Authors: Haoyu Chen; Zhenglin Yang; Daniel Gibbs; Xian Yang; Vincent Hau; Peiquan Zhao; Xiang Ma; Jiexi Zeng; Ling Luo; Erik Pearson; Ryan Constantine; Yuuki Kaminoh; Jennifer Harmon; Zongzhong Tong; Charity A. Stratton; D. Joshua Cameron; Shibo Tang; Kang Zhang
• Keywords: Aged, 80 and over; Male; Genotype; Serine Endopeptidases; High-Temperature Requirement A Serine Peptidase 1; Middle Aged; Polymorphism, Single Nucleotide; Sensory Systems; Ophthalmology; Macular Degeneration; 03 medical and health sciences; 0302 clinical medicine; Gene Frequency; Humans; Female; Genetic Predisposition to Disease; Aged

Single nucleotide polymorphism (SNP), rs11200638, in the promoter of HTRA1 has recently been shown to increase the risk for AMD. In order to investigate the association of this HTRA1 polymorphism and the bilaterality of AMD, we genotyped rs11200638 in control, unilateral, and bilateral advanced AMD patients. The A allele for SNP rs11200638 in HTRA1, was significantly more prevalent in bilateral wet AMD and GA patients than in unilateral groups (p=.02 and p=.03, respectively). The homozygote odds ratios of bilateral wet AMD and GA are significantly greater than those seen in unilateral groups (twofold and threefold increase, respectively). This finding is consistent with the role of HTRA1 in AMD pathogenesis and will help aid in the clinical management and prognosis of AMD patients.