title: A genetic variant in the SKIV2L gene is significantly associated with age-related macular degeneration in a Han Chinese population.
abstract: OBJECTIVE
  Previous studies have shown that genetic variants in the complement component 2 (C2)/complement factor B (BF) gene are associated with AMD in Caucasians, but not in Han Chinese. Recent studies have indicated that genetic variants in the neighboring superkiller viralicidic activity 2-like (SKIV2L) gene showed significant association with AMD. We conducted this study to investigate whether genetic variants in the SKIV2L gene are associated with AMD in a Han Chinese population.
  
  
  METHODS
  Thirteen single nucleotide polymorphisms (SNPs) in the C2-BF-RDBP-SKIV2L-STK19 region were genotyped by the SNaPshot method in a cohort composed of 449 patients with choriodal neovascularization (CNV) AMD and 1025 healthy controls of Han Chinese descent.
  
  
  RESULTS
  Among the SNPs genotyped, P values of seven SNPs were less than 0.05; however, only rs429608 was found to be significantly associated with AMD after correction for multiple testing. The minor allele (A) frequency of rs429608 was 0.050 in cases and 0.089 in controls, and the P value was 3.76 × 10(-4) (0.00489 after Bonferroni correction), with an odds ratio of 0.55 (95% confidence interval, 0.40-0.77). The SKIV2L gene was expressed in the human RPE, retina, and D407 (human RPE) cells, and in mouse retinas and RPE.
  
  
  CONCLUSIONS
  We demonstrated that the rs429608 genetic variant in the SKIV2L gene was significantly associated with AMD in a Han Chinese population. SKIV2L may play an important role in the development of AMD.
authors.affiliation: The Sichuan Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Lu
authors.forename: Yi
authors.initials: Y
authors.lastname: Shi
authors.forename: Chao
authors.initials: C
authors.lastname: Qu
authors.forename: Peiquan
authors.initials: P
authors.lastname: Zhao
authors.forename: Xiaoqi
authors.initials: X
authors.lastname: Liu
authors.forename: Bo
authors.initials: B
authors.lastname: Gong
authors.forename: Shi
authors.initials: S
authors.lastname: Ma
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhou
authors.forename: Qi
authors.initials: Q
authors.lastname: Zhang
authors.forename: Ping
authors.initials: P
authors.lastname: Fei
authors.forename: Yu
authors.initials: Y
authors.lastname: Xu
authors.forename: Jianbin
authors.initials: J
authors.lastname: Hu
authors.forename: Yingchuan
authors.initials: Y
authors.lastname: Fan
authors.forename: Ying
authors.initials: Y
authors.lastname: Lin
authors.forename: Xianjun
authors.initials: X
authors.lastname: Zhu
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
mesh_terms: D016115:Albinism, Oculocutaneous / Q000150:complications*; D005260:Female; D005584:Fovea Centralis / Q000002:abnormalities*; D006801:Humans; D008297:Male; D020417:Nystagmus, Congenital / Q000150:complications*; D012030:Refractive Errors / Q000150:complications*