Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

被引：549

作者：

Thorleifsson, Gudmar

Magnusson, Kristinn P.

Sulem, Patrick

Walters, G. Bragi

Gudbjartsson, Daniel F.

Stefansson, Hreinn

Jonsson, Thorlakur

Jonasdottir, Adalbjorg

Jonasdottir, Aslaug

Stefansdottir, Gerdur

Masson, Gisli

Hardarson, Gudmundur A.

Petursson, Hjorvar

Arnarsson, Arsaell

Motallebipour, Mehdi

Wallerman, Ola

Wadelius, Claes

Gulcher, Jeffrey R.

Thorsteinsdottir, Unnur

Kong, Augustine

Jonasson, Fridbert ^{[1
]}

Stefansson, Kari

机构：

[1] Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland

[2] deCODE Genet Inc, IS-101 Reykjavik, Iceland

[3] Uppsala Univ, Dept Genet & Pathol, Uppsala, Sweden

[4] Natl Univ Hosp Reykjavik, Dept Ophthalmol, IS-101 Reykjavik, Iceland

来源：

SCIENCE | 2007年 / 317卷 / 5843期

关键词：

D O I：

10.1126/science.1146554

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Glaucoma is a leading cause of irreversible blindness. A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q24.1 region associated with glaucoma. Further investigation revealed that the association is confined to exfoliation glaucoma (XFG). Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS). About 25% of the general population is homozygous for the highest-risk haplotype, and their risk of suffering from XFG is more than 100 times that of individuals carrying only low-risk haplotypes. The population-attributable risk is more than 99%. The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFG.

引用

页码：1397 / 1400

页数：4

共 22 条

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