Association of LOXL1 gene with Finnish exfoliation syndrome patients
Association of LOXL1 gene with Finnish exfoliation syndrome patients
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DOI：
10.1038/jhg.2009.28
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发表时间：
2009-05-01
影响因子：
3.5
通讯作者：
Jarvela, Irma
中科院分区：
文献类型：
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作者：
Lemmela, Susanna;Forsman, Eva;Jarvela, Irma
在这项研究中，赖氨酰氧化酶样1（LOXL1）基因上的三个单核苷酸多态性（SNP）与剥脱综合征（XFS）和剥脱性青光眼（XFG）在芬兰人口进行了调查。对59例散发性XFS患者、82例XFG患者、71例原发性开角型青光眼（POAG）患者和26例来自芬兰南部人群的无上述疾病患者进行了病例对照研究，并对一个大家庭进行了一项家族研究，该大家庭有28例XFS或XFG患者和92名来自芬兰西南部群岛科卡尔群岛的未受影响的亲属。匿名献血者（n = 404）作为基于人群的对照进行了研究。通过PCR测序对LOXL1基因的3个SNPs rs1048661（R141L）、rs3825942（G153D）和rs2165241进行基因分型。进行关联和连锁分析。在病例对照组和家系资料中，rs1048661等位基因G（P = 2.65 × 10（-5）; P = 0.0007）、rs3825942等位基因G（P = 2.24 × 10（-8）; P = 0.49）和rs2165241等位基因T（P = 2.62 × 10（-13）; P = 0.0007）显著相关。
In this study, three single-nucleotide polymorphisms (SNPs) on the lysyl oxidase-like 1 (LOXL1) gene associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) were investigated in the Finnish population. A case-control study of 59 sporadic patients with XFS, 82 with XFG, 71 with primary open-angle glaucoma (POAG) and 26 individuals without these disorders from the southern Finnish population, and a family study of an extended family with 28 patients with XFS or XFG and 92 unaffected relatives from Kokar islands, Southwestern Finnish archipelago, were conducted. Anonymous blood donors (n=404) were studied as population-based controls. Three SNPs, rs1048661 (R141L), rs3825942 (G153D) and rs2165241, of the LOXL1 gene were genotyped by PCR sequencing. Association and linkage analyses were carried out. In both case-control and family materials, significant association for allele G of rs1048661 (P=2.65 x 10(-5); P=0.0007), allele G of rs3825942 (P=2.24 x 10(-8); P=0.49) and allele T of rs2165241 (P=2.62 x 10(-13); P