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dc.contributor.authorTam, Pancy O.S.
dc.contributor.authorLeung, Dexter Y.L.
dc.contributor.authorFan, Alex H.
dc.contributor.authorZhang, Mingzhi
dc.contributor.authorTham, Clement C.Y.
dc.contributor.authorWang, Ningli
dc.contributor.authorPang, Chi Pui
dc.contributor.authorChen, Li Jia
dc.contributor.authorFan, Baojian
dc.contributor.authorChiang, Sylvia W.Y.
dc.date.accessioned2013-03-20T15:34:04Z
dc.date.issued2012
dc.identifier.citationChen, Li Jia, Pancy O.S. Tam, Dexter Y.L. Leung, Alex H. Fan, Mingzhi Zhang, Clement C.Y. Tham, Sylvia W.Y. Chiang, Bao Jian Fan, Ningli Wang, and Chi Pui Pang. 2012. SNP rs1533428 at 2p16.3 as a marker for late-onset primary open-angle glaucoma. Molecular Vision 18: 1629-1639.en_US
dc.identifier.issn1090-0535en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:10448844
dc.description.abstractPurpose: To investigate the associations between gene variants in cholesterol 24S-hydroxylase (CYP46A1), LIM homeobox transcription factor 1-beta (LMX1B), plexin domain containing 2 (PLXDC2), toll-like receptor 4 (TLR4), transmembrane and tetratricopeptide repeat containing 2 (TMTC2), zona pellucida glycoprotein 4 (ZP4), chromosome 2p16.3, and primary open-angle glaucoma (POAG). Methods: We studied 462 POAG patients and 577 controls from three cohorts (Hong Kong, Shantou, and Beijing, China). Twelve single-nucleotide polymorphisms (SNPs) were genotyped in the Hong Kong cohort using TaqMan genotyping assay. Significant associations were validated in the Shantou and Beijing cohorts. Results: Association of POAG with TLR4 rs7037117, in a recessive model, was identified in the Hong Kong and Shantou cohorts (both southern Chinese, \(p_{rec}\)=0.0019) but not the Beijing cohort (northern Chinese). rs1533428 at chromosome 2p16.3 showed a consistent trend of age-specific association in all three cohorts. Genotypes TT + CT conferred a 2.16 fold of significantly increased risk to late-onset POAG (\(p_{dom}\)=0.00025), but no significant risk to POAG of younger ages of onset in the combined cohort. A joint effect was found between rs7037117 and rs1533428, with carriers of both higher-risk genotypes having a 4.53 fold of increased disease risk (p=0.00028). Conclusions: Our study reveals discrepant association patterns of 12 candidate SNPs in 7 genes/loci with POAG in Chinese, provides positive replications for POAG markers rs1533428 at 2p16.3 and TLR4 rs7037117, and suggests that rs1533428 is a putative risk variant for late-onset POAG. The identification of an age-specific association between rs1533428 and late-onset POAG highlights a new genotype-phenotype association in POAG. Further studies are warranted to confirm the age-specific association.en_US
dc.language.isoen_USen_US
dc.publisherMolecular Visionen_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388985/pdf/en_US
dash.licenseLAA
dc.titleSNP rs1533428 at 2p16.3 as a marker for late-onset primary open-angle glaucomaen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalMolecular Visionen_US
dash.depositing.authorFan, Baojian
dc.date.available2013-03-20T15:34:04Z
dash.authorsorderedfalse
dash.contributor.affiliatedFan, Baojian


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