一个由加利福尼亚大学（University of California）、圣地亚哥医学院（San Diego School of Medicine）、美国国立眼科研究所（the National Eye Institute）、中国华西医院的研究人员组成国际研究小组，已经在黑人中识别了青光眼相关的基因变异。这项发现可能有助于未来该疾病的治疗。

    这项研究结果发布在9月21日Proceedings of the National Academy of Science的在线版本上。

    青光眼是导致黑人失明的主要原因，有将近5%的黑人受其影响。科研人员选择巴巴多斯岛上的加勒比黑人作为研究对象，该岛上几乎有10%的居民患有青光眼。

    青光眼是一种神经组织退化疾病，是由视网膜中心细胞死亡导致的，最终会造成逐步的不可挽回的视力丧失。虽然我们知道该疾病有明显的遗传学因素，但是关于青光眼的这些过程目前还不是很清楚。

    研究人员介绍说，他们已经识别了一种常见的基因变异，对个体的青光眼发病具有显著影响。这些基因变异在40%的青光眼患者中存在。这也为青光眼的早期诊断和新疗法的开发提供更好的手段。

    生物谷推荐原始出处：

    PNAS September 24, 2009, doi: 10.1073/pnas.0907564106

    Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados

    Xiaodong Jiaoa,1, Zhenglin Yangb,c,d,1, Xian Yangb,c,e,1, Yuhong Chenb,c,f, Zongzhong Tongc, Chao Zhaob,c, Jiexi Zengb,c, Haoyu Chenc, Daniel Gibbsc, Xufang Sunb, Bei Lib, W. Scott Wakinsg, Cynthia Meyerb, Xiaolei Wangb, Daniel Kasugab, Matthew Bedellb, Erik Pearsonc, Robert N. Weinrebb, M. Cristina Leskeh, Anselm Hennisi, Andrew DeWanj, Barbara Nemesureh,2, Lynn B. Jordeg, Josephine Hohj,2, J. Fielding Hejtmancika,2 and Kang Zhangb,c,k,2

    Primary open-angle glaucoma (POAG) is the second leading cause of blindness worldwide. Although a number of genetic loci have shown association or genetic linkage to monogenic forms of POAG, the identified genes and loci do not appear to have a major role in the common POAG phenotype. We seek to identify genetic loci that appear to be major risk factors for POAG in the Afro-Caribbean population of Barbados, West Indies. We performed linkage analyses in 146 multiplex families ascertained through the Barbados Family Study of Glaucoma (BFSG) and identified a strong linkage signal on chromosome 2p (logarithm of odds score = 6.64 at θ = 0 with marker D2S2156). We subsequently performed case-control analyses using unrelated affected individuals and unaffected controls. A set of SNPs on chromosome 2p was evaluated in two independent groups of BFSG participants, a discovery group (130 POAG cases, 65 controls) and a replication group (122 POAG cases, 65 controls), and a strong association was identified with POAG and rs12994401 in both groups (P < 3.34 E?09 and P < 1.21E?12, respectively). The associated SNPs form a common disease haplotype. In summary, we have identified a locus with a major impact on susceptibility to the common POAG phenotype in an Afro-Caribbean population in Barbados. Our approach illustrates the merit of using an isolated population enriched with common disease variants as an efficient method to identify genetic underpinning of POAG.