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, Stefansson Kari
deCODE genetics Inc, 101 Reykjavik, Iceland.
Science. 2007 Sep 7;317(5843):1397-400. doi: 10.1126/science.1146554. Epub 2007 Aug 9.
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.
青光眼是不可逆失明的主要原因。全基因组搜索在15q24.1区域产生了多个与青光眼相关的单核苷酸多态性（SNP）。进一步研究发现，这种关联仅限于剥脱性青光眼（XFG）。基因LOXL1外显子1中的两个非同义SNP解释了这种关联，数据表明它们主要通过剥脱综合征（XFS）赋予XFG风险。约25%的普通人群是最高风险单倍型的纯合子，他们患XFG的风险是仅携带低风险单倍型个体的100倍以上。人群归因风险超过99%。LOXL1的产物催化弹性纤维的形成，弹性纤维是XFG病变的主要成分。
