Association of the Y402H polymorphism in complement factor H gene and neovascular age-related macular degeneration in Chinese patients.
OBJECTIVE
Age-related macular degeneration (AMD), with its complex traits and multiple risk factors, is the leading cause of blindness in the elderly. A strong association between a coding variant, Y402H, in the complement factor H gene (CFH) and AMD has been recently identified in white patients. This study was conducted to investigate the association between the Y402H polymorphism in CFH and neovascular AMD in Chinese patients.


METHODS
One hundred sixty-three Chinese patients with neovascular AMD and 232 age-matched healthy controls were enrolled in the study. Genomic DNA from white blood cells was extracted. The Y402H polymorphism in CFH, with the substitution of T to C at nucleotide position 1277 in exon 9, was determined by polymerase chain reaction-restriction fragment length polymorphism analysis. The association between the genetic polymorphism and the disease was examined by chi(2) test and logistic regression.


RESULTS
The frequency of the risk allele, 1277C, was 11.3% in AMD patients compared with 2.8% in controls (P < 0.00001). Genotype frequency differed significantly between the two groups (1277TT 81.0%, 1277TC 15.3%, and 1277CC 3.7% in the AMD group; 1277TT 94.4%, 1277TC 5.6%, and 1277CC 0% in the control group; P < 0.0001). The 1277C allele significantly increased the risk for neovascular AMD and had an odds ratio of 4.4 (95% confidence interval [95% CI], 2.3-8.5; P < 0.00001).


CONCLUSIONS
The allele frequency of Y402H polymorphism in CFH has an ethnic variation, with much lower 1277C frequency in Chinese than in white patients. Despite this, the polymorphism is significantly associated with neovascular AMD in the Chinese population.
Lau
Ling-Ing
LI
Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
Chen
Shih-Jen
SJ
Cheng
Ching-Yu
CY
Yen
May-Yung
MY
Lee
Fenq-Lih
FL
Lin
Ming-Wei
MW
Hsu
Wen-Ming
WM
Wei
Yau-Huei
YH
D000368:Aged; D044466:Asian People / Q000208:ethnology; D016022:Case-Control Studies; D020256:Choroidal Neovascularization / Q000208:ethnology / Q000209:etiology / Q000235:genetics*; D017242:Complement Factor H / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D013624:Taiwan / Q000453:epidemiology
C493495:CFH protein, human; D017242:Complement Factor H