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COMPLEMENT FACTOR H VARIANT INCREASES THE RISK FOR EARLY AGE-RELATED MACULAR DEGENERATION

LIN, JANE-MING MD*; TSAI, YI-YU MD, PhD*; WAN, LEI PhD†‡§; LIN, HUI-JU MD, PhD*; TSAI, YUSHIN PhD§; LEE, CHENG-CHUN PhD‡; TSAI, CHANG-HAI MD, PhD†‡¶; TSAI, FUU-JEN MD, PhD†‡¶; TSENG, SUNG-HUEI MD, PhD**

doi: 10.1097/IAE.0b013e318184661d
Original Articles

Purpose: To investigate whether a polymorphism in the complement factor H gene determines the risk for the development of early age-related macular degeneration (AMD).

Methods: In this retrospective case–control study, we enrolled 133 unrelated Taiwan Chinese patients with early AMD and 180 age- and sex-matched control subjects. Early AMD was defined as the presence of extensive intermediate drusen or any large, soft drusen (≥125 μm), possibly accompanied by drusenoid retinal pigment epithelial detachment, and the absence of signs of late AMD. Genomic DNA was extracted from peripheral blood obtained from all the AMD patients and control subjects. Polymerase chain reaction was performed to analyze the complement factor H polymorphism (Y402H, rs1061170).

Results: The genotype distribution differed significantly between the early AMD patients (TT 80%; TC 14%; and CC 6%) and controls (TT 91%; TC 9%; CC 0%; P = 9 × 10–4). The C allele frequency was significantly higher in the early AMD patients than in the controls (13% vs. 4%, P = 1 × 10−4, odds ratios = 3.26, 95% confidence intervals = 1.76–6.02).

Conclusions: Our study demonstrated that the presence of the Y402H polymorphism in complement factor H is significantly associated with increased susceptibility to early AMD in Taiwan Chinese populations and that the C allele frequency is low in these populations.

In this study performed on 133 unrelated Taiwan Chinese patients with early age-related macular degeneration and 180 age- and sex-matched control subjects, we demonstrated that the Y402H polymorphism in complement factor H gene is significantly associated with early age-related macular degeneration and that the frequency of the C allele is low in Taiwan Chinese populations.

From the Departments of *Ophthalmology, †Medical Genetics, and ‡Medical Research, China Medical University Hospital, Taichung, Taiwan; §Graduate Institute of Chinese Medical Science, China Medical University, Taichung, Taiwan; ¶Department of Biotechnology and Bioinformatics, Asia University, Taichung, Taiwan; and **Department of Ophthalmology, National Cheng Kung University Hospital, Tainan, Taiwan.

Jane-Ming Lin and Yi-Yu Tsai contributed equally to this work.

The authors have no proprietary or financial interest in any material or device mentioned.

Reprint requests: Fuu-Jen Tsai, MD, PhD, Department of Medical Genetics and Graduate Institute of Chinese Medical Science, China Medical University Hospital, No. 2 Yuh Der Road, Taichung 404, Taiwan; e-mail: d0704@mail.cmuh.org.tw

© The Ophthalmic Communications Society, Inc.