Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
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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.
著者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
期刊名稱Nature Genetics
出版年份2010
月份10
日期1
卷號42
期次10
出版社Nature Publishing Group
頁次906 - +
國際標準期刊號1061-4036
電子國際標準期刊號1546-1718
語言英式英語
Web of Science 學科類別Genetics & Heredity; GENETICS & HEREDITY

上次更新時間 2021-25-02 於 23:58