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Evaluation of LOXL1 polymorphisms in primary open-angle glaucoma in southern and northern Chinese

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机构: [1]Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China [2]Joint Shantou International Eye Center, Shantou University Medical College, Shantou, China [3]Department of Ophthalmology, Beijing Tongren Hospital, Beijing, China [4]Einhorn Clinical Research Center, New York Eye and Ear Infirmary, New York, NY
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Purpose: 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.

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出版当年[2007]版:
大类 | 3 区 生物
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 生化与分子生物学 4 区 眼科学
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出版当年[2006]版:
Q1 OPHTHALMOLOGY Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
最新[2023]版:
Q3 OPHTHALMOLOGY Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

影响因子: 最新[2023版] 最新五年平均 出版当年[2006版] 出版当年五年平均 出版前一年[2005版] 出版后一年[2007版]

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第一作者机构: [1]Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China [2]Joint Shantou International Eye Center, Shantou University Medical College, Shantou, China
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通讯机构: [1]Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China [*1]Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 147K Argyle Street, Kowloon, Hong Kong
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