Association Of The Y402H Variant In Complement Factor H With Susceptibility To Age-Related Macular Degeneration

Background:Age-related macular degeneration(AMD) is the most frequent cause of irreversible blindness in the people older than 50. Now the pathogeny of AMD is not clear, maybe AMD is caused by reciprocity of environmental factor, biological factor and genetic factor. With the flying development and progress of molecular-biology, the genetic research and genetic therapy of AMD turn into a current hotspot. The researcher overseas have reported the single nucleotide polymorphisms (SNPs) of the complement factor H (CFH) gene were strongly associated with AMD recently. A positive association between Y402H polymorphism of the complement factor H (CFH) gene and AMD has been recently reported in North American and European populations. In China, what is the relation between Y402H and AMD, we don't know.Objective : Our purpose was to detect single nucleotide polymorphisms (SNPs) of the exon 9 of complement factor H gene (Y402H) and to investigate its association with age-related macular degeneration patients in china.Methods:fifty-six unrelated sporadic patients with AMD and sixty unrelated age-matched controls without AMD were recruited from He EYE Hospital in ShenYang from 2004 to 2005. All study subjects are ethnic Chinese living in DongBei. Vein blood samples 4-6ml were collected and Genomic DNA were extracted. Exon 9 of CFH gene was PCR amplified .The SNPs of the exon 9 of CFH gene in AMD patients and control subjects were screened and identified by fluorescent labeling automated sequencing. The genotype frequencies of SNP in the two groups were counted and obtained statistical analyse.