title: [Evaluation of LOXL1 polymorphisms in exfoliation syndrome in the Uygur population].
abstract: OBJECTIVE
  In this study, we evaluate the association profiles of the lysyl oxidase-like 1 ( LOXL1) gene polymorphisms with exfoliation syndrome in XFS Uygur population.
  
  
  METHODS
  Case-control study. Sixty-four unrelated Uygur patients with XFS (including 7 patients with Exfoliation Syndrome Glaucoma) and 127 Uygur control subjects were included. All of control subjects were selected from the same area, passed through the same ophthalmic checks and confirmed without any expressions of XFS. Most of them suffered from cataract and other ophthalmic disease.Genotypes of the three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661, rs2165241 and rs3825942) were analyzed by direct sequencing following PCR amplification, and a case-control association study was performed and judged by odd ratio (OR) with (95% confidential interval).
  
  
  RESULTS
  G allele of rs1048661 [OR:1.92 (1.14-3.22)], G of rs3825942 [OR:4.86 (2.02-11.68)], and T of rs2165241[OR:3.98 (2.54-6.25)] were risk alleles for the disorder. The genotypes TT for rs2165241 [OR:2.20 (1.04-4.65)] were risk genotypes for the disease.
  
  
  CONCLUSIONS
  LOXL1 is a susceptibility gene of XFS in the Uygur populations. The risk alleles of rs1048661, rs3825942 and rs2165241 in Uygur subjects were identified to be significantly associated with XFS individually.
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital of Xinjiang Medical University,Xinjiang 830054, China.
authors.forename: Yinu
authors.initials: Y
authors.lastname: Ma
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital of Xinjiang Medical University,Xinjiang 830054, China.
authors.forename: Tingyu
authors.initials: T
authors.lastname: Xie
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital of Xinjiang Medical University,Xinjiang 830054, China.
authors.forename: Guowei
authors.initials: G
authors.lastname: Zhu
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital of Xinjiang Medical University,Xinjiang 830054, China. Email:ykangle@163.com.
authors.forename: Xueyi
authors.initials: X
authors.lastname: Chen
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D005006:Ethnicity / Q000235:genetics; D017889:Exfoliation Syndrome / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human