Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations
Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations
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DOI：
10.1167/iovs.08-1850
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发表时间：
2008-08-01
影响因子：
4.4
通讯作者：
Allingham, R. Rand
中科院分区：
文献类型：
--
作者：
Liu, Yutao;Schmidt, Silke;Allingham, R. Rand
目的.最近报道了假性剥脱性青光眼（XFG）与赖氨酰氧化酶样1基因（LOXL1）中的两个单核苷酸多态性（SNP）rs3825942和rs1048661之间的显著关联。本研究的目的是调查XFG相关的LOXL1变异体是否在白种人、非洲裔美国人和加纳人（西非）人群中的原发性开角型青光眼中发挥重要作用。POAG定义为存在青光眼性视神经损伤、相关视野丧失和眼内压升高（双眼> 22 mm Hg）。在高加索人（279例和227对照），非洲裔美国人（193例和97对照）和加纳人（170例和138对照）人群中，通过等位基因歧视测定对13个标签SNP进行基因分型。比较病例组和对照组的等位基因和基因型频率。在这些人群中，与LOXL1中XFG相关的SNP均与POAG无显著相关。与高加索人相比，非裔美国人和加纳人群体中rs2165241和rs3825942的风险等位基因频率显着较低。结论。LOXL1基因的SNPs与POAG无相关性。这是第一次在非洲裔美国人和西非人群中分析LOXL1基因。LOXL1基因变异在高加索或西非血统人群中POAG的发病机制中似乎没有发挥重要作用。
PURPOSE. Significant association has recently been reported between pseudoexfoliation glaucoma (XFG) and two single-nucleotide polymorphisms (SNPs), rs3825942, and rs1048661, in the lysyl oxidase-like 1 gene (LOXL1). The purpose of this study was to investigate whether XFG-associated variants of LOXL1 play a significant role in primary open-angle glaucoma in the Caucasian, African-American, and Ghanaian (West-African) populations.METHODS. POAG was defined as the presence of glaucomatous optic nerve damage, associated visual field loss, and elevated intraocular pressure (> 22 mm Hg in both eyes). Thirteen tagging SNPs were genotyped by allelic discrimination assays in the Caucasian (279 cases and 227 controls), African-American (193 cases and 97 controls), and Ghanaian (170 cases and 138 controls) populations. Allele and genotype frequencies were compared between the cases and controls from each population.RESULTS. None of the SNPs associated with XFG in LOXL1 were significantly associated with POAG in these populations. The risk allele frequencies for rs2165241 and rs3825942 were significantly lower in the African-American and Ghanaian populations, compared with Caucasian individuals.CONCLUSIONS. There was no association between SNPs in the LOXL1 gene and POAG. This is the first analysis of the LOXL1 gene in African-American and West-African populations. LOXL1 gene variants do not appear to play a significant role in the pathogenesis of POAG in populations of either Caucasian or West-African ancestry.