Publication in refereed journal
香港中文大学研究人员 ( 现职)
| 谭霭仙女士 (儿科学系) |
| 林顺潮教授 (外科学系) |
| 彭智培教授 (眼科及视觉科学学系) |
| 陈重娥教授 (内科及药物治疗学系) |
| 邓亮生教授 (化学病理学系) |
| 谭霭仙女士 (儿科学系) |
| 林顺潮教授 (外科学系) |
全文
| 数位物件识别号 (DOI) http://dx.doi.org/10.1038/ng.661 |
引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/177WOS source URL
其它资讯
摘要We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[ A], odds ratio (OR) = 1.36, P = 5.0 x 10(-10)). We then replicated the association in sample sets of 2,175 POAG cases and 2,064 controls from Sweden, the UK and Australia (combined OR = 1.18, P = 0.0015) and in 299 POAG cases and 580 unaffected controls from Hong Kong and Shantou, China (combined OR = 5.42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG.
着者Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, Dewan A, Sigurdsson A, Jonasdottir A, Gudjonsson SA, Magnusson KP, Stefansson H, Lam DSC, Tam POS, Gudmundsdottir GJ, Southgate L, Burdon KP, Gottfredsdottir MS, Aldred MA, Mitchell P, St Clair D, Collier DA, Tang N, Sveinsson O, Macgregor S, Martin NG, Cree AJ, Gibson J, MacLeod A, Jacob A, Ennis S, Young TL, Chan JCN, Karwatowski WSS, Hammond CJ, Thordarson K, Zhang M, Wadelius C, Lotery AJ, Trembath RC, Pang CP, Hoh J, Craig JE, Kong A, Mackey DA, Jonasson F, Thorsteinsdottir U, Stefansson K
期刊名称Nature Genetics
出版年份2010
月份10
日期1
卷号42
期次10
出版社Nature Publishing Group
页次906 - +
国际标準期刊号1061-4036
电子国际标準期刊号1546-1718
语言英式英语
Web of Science 学科类别Genetics & Heredity; GENETICS & HEREDITY
