SNP rs1533428 at 2p16.3 as a marker for late-onset primary open-angle glaucoma

被引:0
|
作者
Chen, Li Jia [1 ,2 ,7 ]
Tam, Pancy O. S. [7 ]
Leung, Dexter Y. L. [1 ,7 ]
Fan, Alex H. [2 ,7 ]
Zhang, Mingzhi [3 ,4 ]
Tham, Clement C. Y. [7 ]
Chiang, Sylvia W. Y. [7 ]
Fan, Bao Jian [5 ]
Wang, Ningli [6 ]
Pang, Chi Pui [7 ]
机构
[1] Hosp Author, Hong Kong Eye Hosp, Hong Kong, Hong Kong, Peoples R China
[2] Hosp Author, Prince Wales Hosp, Hong Kong, Hong Kong, Peoples R China
[3] Chinese Univ Hong Kong, Shantou, Peoples R China
[4] Shantou Univ, Joint Shantou Int Eye Ctr, Shantou, Peoples R China
[5] Harvard Univ, Sch Med, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Boston, MA USA
[6] Capital Med Univ, Beijing Tongren Eye Ctr, Beijing Tongren Hosp, Beijing, Peoples R China
[7] Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Hong Kong, Peoples R China
来源
MOLECULAR VISION | 2012年 / 18卷 / 167-68期
关键词
GENOME-WIDE ASSOCIATION; NORMAL-TENSION GLAUCOMA; GENE POLYMORPHISMS; MUTATION PATTERN; COMMON VARIANTS; POPULATION; OPTINEURIN; LOCUS; SUSCEPTIBILITY; IDENTIFICATION;
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Purpose: 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.
引用
收藏
页码:1629 / 1639
页数:11
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