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Originally published In Press as doi:10.1167/iovs.07-1517 on April 17, 2008
 (Investigative Ophthalmology and Visual Science. 2008;49:3312-3317.)
© 2008 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.07-1517
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Multiple Gene Polymorphisms in the Complement Factor H Gene Are Associated with Exudative Age-Related Macular Degeneration in Chinese

Tsz Kin Ng,1,2 Li Jia Chen,1,2 David T. L. Liu,1 Pancy O. S. Tam,1 Wai Man Chan,1,3 Ke Liu,1,4 Yi Jun Hu,1,5 Kelvin K. L. Chong,1 Charles S. L. Lau,1 Sylvia W. Y. Chiang,1 Dennis S. C. Lam,1 and Chi Pui Pang1

1From the Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China; and the 5Joint Shantou International Eye Center, Shantou University Medical College, Shantou, China.

PURPOSE. Variants in the complement factor H (CFH) gene 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 promoter sequences were screened by polymerase chain reaction and DNA sequencing.

RESULTS. Fifty-eight sequence changes, 42 of them novel, were identified. Six SNPs with an allele frequency >30% were significantly associated with exudative AMD. SNP rs3753396 was novel; the rest had been 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 to exudative AMD (Pcorr = 0.0001, OR = 1.91, 95% CI = 1.36–2.68).

CONCLUSIONS. The findings support prior evidence that the CFH gene is one of the AMD-associated genes. There is a different distribution pattern of CFH variants in the Chinese compared with other populations. Individual SNP and haplotype analyses revealed that the ancient alleles at the 5' end of CFH contribute to an increased susceptibility to exudative AMD.






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