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学科主题临床医学
Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population
Chen, Ling1; Jia, Liyun1; Wang, Ningli1; Tang, Guangxian2; Zhang, Chun3; Fan, Sujie4; Liu, Wenru4; Meng, Hailin5; Zeng, Wotan6; Liu, Ningpu1; Wang, Huaizhou1; Jia, Hongyan1
刊名MOLECULAR VISION
2009-11-14
15期:250-52页:2349-2357
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Biochemistry & Molecular Biology ; Ophthalmology
研究领域[WOS]Biochemistry & Molecular Biology ; Ophthalmology
关键词[WOS]OPEN-ANGLE GLAUCOMA ; COMMON SEQUENCE VARIANTS ; PSEUDOEXFOLIATION SYNDROME ; GENE POLYMORPHISMS ; JAPANESE POPULATION ; SOUTHERN INDIA ; UNITED-STATES ; PREVALENCE ; ASSOCIATION ; EYE
英文摘要

Purpose: To evaluate the association profiles of the lysyl oxidase-like 1 (LOXL1) gene polymorphisms with exfoliation syndrome in a Chinese population.

Methods: Fifty unrelated patients with exfoliation syndrome and 125 control subjects were included. Genotypes of the three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed by direct sequencing, and a case-control association study was performed.

Results: The three SNPs were significantly associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) individually. After controlling for rs3825942 and rs2165241, the association between rs1048661 and XFS/XFG remained significant (p=3.6x10(-7)). At this SNP, the T allele and TT genotype conferred a 7.59-(95% confidence interval [CI]: 3.87-14.89, p=6.95x10(-11)) and 8.69-(95% CI: 4.15-18.20, p<1.00x10(-7)) fold increased risk to the disease. The alleles of T at rs1048661 and C at rs2165241 were found to be risk alleles in Chinese subjects, which were opposite to Caucasian individuals. The haplotypes T-G, defined by SNPs rs1048661 and rs3825942, and T-C by SNPs rs1048661 and rs2165241, were also significantly associated with the disorder. However when the genotypic or allelic frequencies of the three SNPs were compared between XFS and XFG, no significant difference was detected.

Conclusions: LOXL1 is a susceptibility gene of XFS/XFG in the Chinese population, and the association is mainly attributed to SNP rs1048661. The risk alleles of rs1048661 and rs2165241 in Chinese subjects were found to be opposite to that of Caucasians. The genotypic and allelic distributions of these SNPs are similar between XFS and XFG.

语种英语
WOS记录号WOS:000272475000002
引用统计
被引频次:49[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60357
专题北京大学第三临床医学院_眼科
作者单位1.XingTai Eye Hosp, Dept Ophthalmol, Xingtai, Peoples R China
2.Peking Univ, Hosp 3, Ctr Eye, Beijing 100871, Peoples R China
3.Handan Eye Hosp, Dept Ophthalmol, Handan, Peoples R China
4.Anyang Eye Hosp, Dept Ophthalmol, Anyang, Peoples R China
5.Chinese Natl Human Genome Ctr, Beijing, Peoples R China
6.Capital Med Univ, Beijing Tongren Eye Ctr, Beijing Tongren Hosp, Beijing Ophthalmol & Visual Sci Key Lab, Beijing, Peoples R China
推荐引用方式
GB/T 7714
Chen, Ling,Jia, Liyun,Wang, Ningli,et al. Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population[J]. MOLECULAR VISION,2009,15(250-52):2349-2357.
APA Chen, Ling.,Jia, Liyun.,Wang, Ningli.,Tang, Guangxian.,Zhang, Chun.,...&Jia, Hongyan.(2009).Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population.MOLECULAR VISION,15(250-52),2349-2357.
MLA Chen, Ling,et al."Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population".MOLECULAR VISION 15.250-52(2009):2349-2357.
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