title: Evaluation of LOXL1 polymorphisms in primary open-angle glaucoma in southern and northern Chinese.
abstract: OBJECTIVE
  The lysyl oxidase-like protein 1 (LOXL1) gene is strongly associated with exfoliation glaucoma, which is very rare in the Chinese population. The implicated LOXL1 polymorphisms have not been associated with primary open-angle glaucoma (POAG). In this study, we investigated three of the LOXL1 polymorphisms in POAG in a southern Chinese population of Hong Kong and northern Chinese from Beijing.
  
  
  METHODS
  The Hong Kong group included 293 POAG patients and 250 controls, and the Beijing group included 169 POAG patients and 197 controls. LOXL1 single nucleotide polymorphisms (SNPs), rs1048661, rs3825942, and rs2165241, were genotyped by direct DNA sequencing. Individual association was analyzed using the chi(2) test, and haplotype-based association analysis was performed in WHAP.
  
  
  RESULTS
  Each of the candidate SNPs was not statistically associated with POAG in either group (p>0.017, Bonferroni correction). Haplotype-based association analysis had identified a significant omnibus association (Omnibus chi(2)=18.16, p=0.00115) between these SNPs and POAG in the Hong Kong group. A minor haplotype (T-G-T) showed significant statistical association with POAG. It presented in 2.1% of cases and 0.4% of controls, conferring a 5.24 fold of increased risk to the disease (95% CI: 1.17-23.54, P(perm)=0.00108). However, this haplotype was absent in the Beijing group.
  
  
  CONCLUSIONS
  Individual LOXL1 SNPs, rs1048661, rs3825942, and rs2165241, were not associated with POAG in the Chinese population. However, a minor haplotype T-G-T was found to be associated with the disorder in the southern Chinese. The low frequencies of the at-risk alleles at rs1048661 and rs2165241 may be one of the factors that led to the low prevalence of exfoliation syndrome in the general populations of the Chinese.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Wei Fen
authors.initials: WF
authors.lastname: Gong
authors.forename: Sylvia W Y
authors.initials: SW
authors.lastname: Chiang
authors.forename: Li Jia
authors.initials: LJ
authors.lastname: Chen
authors.forename: Pancy O S
authors.initials: PO
authors.lastname: Tam
authors.forename: Li Yun
authors.initials: LY
authors.lastname: Jia
authors.forename: Dexter Y L
authors.initials: DY
authors.lastname: Leung
authors.forename: Yi Qun
authors.initials: YQ
authors.lastname: Geng
authors.forename: Clement C Y
authors.initials: CC
authors.lastname: Tham
authors.forename: Dennis S C
authors.initials: DS
authors.lastname: Lam
authors.forename: Robert
authors.initials: R
authors.lastname: Ritch
authors.forename: Ningli
authors.initials: N
authors.lastname: Wang
authors.forename: Chi Pui
authors.initials: CP
authors.lastname: Pang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D015331:Cohort Studies; D003710:Demography; D005260:Female; D020022:Genetic Predisposition to Disease; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006239:Haplotypes; D006723:Hong Kong; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human