title: Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a han chinese control population.
abstract: OBJECTIVE
  Our study aimed to detect the frequency of age-related macular degeneration (AMD)-susceptibility single nucleotide polymorphisms (SNPs) in control subjects of Han Chinese in a population-based study.
  
  
  METHODS
  A total of 419 subjects of Han Chinese without AMD were recruited from our population-based Nantong Eye Study. Nine AMD-susceptibility SNPs were genotyped. The allele/genotype frequencies were compared with the data from the literature and NCBI Reference Assembly.
  
  
  RESULTS
  The call rates of genotyping were > 98%. All tested SNPs except for HTRA1 rs11200638 were in Hardy-Weinberg Equilibrium (HWE). The allele distributions of some AMD-susceptibility SNPs were different from the records for the Chinese population in the National Center for Biotechnology Information (NCBI) Reference Assembly. Compared to those in a Caucasian population, the frequency of minor alleles of CFH rs800292 (48% vs. 19.2%) and HTRA1 rs11200638 were much higher (47% vs. 25%), while the frequency of minor alleles of CFH rs1061170 (9% vs. 35%), CX3CR1 rs3732379 (3% vs. 21%), CX3CR1 rs3732378 (3% vs. 11%) and SERPING1 rs2511989 (11% vs. 48%) were much lower in the Han Chinese population. Minor differences were observed in the frequency of minor alleles of CFB rs4151667, C2 rs547154 and TLR3 rs3775291. The allele/genotype frequencies of CFH rs1061170 and HTRA1 rs11200638, two well-confirmed AMD-susceptible SNPs, were close to each other in the Han Chinese and Japanese population.
  
  
  CONCLUSIONS
  The distribution of AMD-susceptibility SNPs shows ethnicity specificity. Substantial differences of the SNPs' distribution were noted from study to study, even within the same ethnic group. The genotype data will be used for longitudinal observation of AMD onset in the follow-up of the cohort.
authors: Department of Ophthalmology, Affiliated Hospital of Nantong University, Jiangsu Province, China.
authors: Jianyan
authors: J
authors: Hu
authors: Yuan
authors: Y
authors: Yuan
authors: Lei
authors: L
authors: Shen
authors: Junfang
authors: J
authors: Zhang
authors: Nan
authors: N
authors: Hu
authors: Huaijin
authors: H
authors: Guan