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A more recent version of this article appeared on August 1, 2008
 (Investigative Ophthalmology and Visual Science. )
© 2008 by The Association for Research in Vision and Ophthalmology, Inc.
doi:10.1167/iovs.07-1517
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Article

Multiple Gene Polymorphisms in the Complement Factor H Gene are Associated with Exudative Age-related Macular Degeneration in Chinese

Tsz Kin Ng 1, Li jia Chen 1, David T.L. Liu 1, Pancy O.S. Tam 1, Wai-Man Chan 1, Ke Liu 2, Yi Jun Hu 3, Kelvin K.L. Chong 1, Charles S.L. Lau 1, Sylvia W.Y. Chiang 1, Dennis S.C. Lam 1, and Chi-Pui Pang 4*

1 Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong
2 Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong; Shenzhen Ophthalmic Center, Shenzhen Eye Hospital, Shenzhen, China
3 Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong; Joint Shantou International Eye Center, Shantou University Medical College, Shantou, China
4 Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, Hong Kong, Hong Kong, China

* To whom correspondence should be addressed. E-mail: cppang{at}cuhk.edu.hk.


  Abstract

Purpose: Variants in the complement factor H gene (CFH) have been shown to be strongly associated with age-related macular degeneration (AMD). In this study, sequence alterations in CFH were investigated in 163 Chinese patients with exudative AMD and 155 unrelated Chinese control subjects. Methods: All the 22 CFH exons, intron-exon boundaries and the promoter sequence were screened by polymerase chain reaction and DNA sequencing. Results: We identified 58 sequence changes, 42 of them novel. Six SNPs with an allele frequency >30% were significantly associated with exudative AMD. SNP rs3753396 was novel, and the rest previously reported: rs3753394, rs551397, rs800292, rs2274700, and rs1329428. Two haplotype blocks were constructed. The TG haplotype for rs551397 and rs800292 was the major haplotype that conferred a significantly increased susceptibility for exudative AMD (Pcorr=0.0001, OR=1.91 95% CI: 1.36-2.68). Conclusions: Our findings enrich the evidence on the CFH gene as one of the AMD associated genes. There is a different distribution pattern of CFH variants in Chinese as compared to other populations. Individual SNP analysis and haplotype analysis revealed that the ancient alleles at the 5' end of CFH attribute to increased susceptibility of exudative AMD.

Key Words: exudative AMD, CFH polymorphism, Chinese




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