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DOI 10.1038/ng.661

Медицинская библиотека · Nature genetics · 2010

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.

Thorleifsson Gudmar, Walters G Bragi, Hewitt Alex W, Masson Gisli, Helgason Agnar, DeWan Andrew, Sigurdsson Asgeir, Jonasdottir Adalbjorg, Gudjonsson Sigurjon A, Magnusson Kristinn P, Stefansson Hreinn, Lam Dennis S C, Tam Pancy O S, Gudmundsdottir Gudrun J, Southgate Laura, Burdon Kathryn P, Gottfredsdottir Maria Soffia, Aldred Micheala A, Mitchell Paul, St Clair David, Collier David A, Tang Nelson, Sveinsson Orn, Macgregor Stuart, Martin Nicholas G, Cree Angela J, Gibson Jane, Macleod Alex, Jacob Aby, Ennis Sarah, Young Terri L, Chan Juliana C N, Karwatowski Wojciech S S, Hammond Christopher J, Thordarson Kristjan, Zhang Mingzhi, Wadelius Claes, Lotery Andrew J, Trembath Richard C, Pang Chi Pui, Hoh Josephine, Craig Jamie E, Kong Augustine, Mackey David A, Jonasson Fridbert, Thorsteinsdottir Unnur, Stefansson Kari

Сравнительное исследованиеСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПоддержка правительства СШАПеревод пока не подготовлен

Аннотация

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 × 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.

Для цитирования: Thorleifsson Gudmar, Walters G Bragi, Hewitt Alex W, Masson Gisli, Helgason Agnar, DeWan Andrew, Sigurdsson Asgeir, Jonasdottir Adalbjorg, Gudjonsson Sigurjon A, Magnusson Kristinn P, Stefansson Hreinn, Lam Dennis S C, Tam Pancy O S, Gudmundsdottir Gudrun J, Southgate Laura, Burdon Kathryn P, Gottfredsdottir Maria Soffia, Aldred Micheala A, Mitchell Paul, St Clair David, Collier David A, Tang Nelson, Sveinsson Orn, Macgregor Stuart, Martin Nicholas G, Cree Angela J, Gibson Jane, Macleod Alex, Jacob Aby, Ennis Sarah, Young Terri L, Chan Juliana C N, Karwatowski Wojciech S S, Hammond Christopher J, Thordarson Kristjan, Zhang Mingzhi, Wadelius Claes, Lotery Andrew J, Trembath Richard C, Pang Chi Pui, Hoh Josephine, Craig Jamie E, Kong Augustine, Mackey David A, Jonasson Fridbert, Thorsteinsdottir Unnur, Stefansson Kari. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.. Nature genetics. 2010. DOI: 10.1038/ng.661.

Предметные рубрики MeSH

AdultAgedAged, 80 and overCase-Control StudiesCaveolin 1Caveolin 2Chromosomes, Human, Pair 7FemaleGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyGenotypeGlaucoma, Open-AngleHumansMaleMiddle AgedPolymorphism, Single Nucleotide
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