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Article: Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma

TitleCommon variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma
Authors
Issue Date2014
Citation
Nature Genetics, 2014, v. 46, n. 10, p. 1115-1119 How to Cite?
AbstractWe performed a genome-wide association study for primary open-angle glaucoma (POAG) in 1,007 cases with high-pressure glaucoma (HPG) and 1,009 controls from southern China. We observed genome-wide significant association at multiple SNPs near ABCA1 at 9q31.1 (rs2487032; P = 1.66 × 10−8) and suggestive evidence of association in PMM2 at 16p13.2 (rs3785176; P = 3.18 × 10−6). We replicated these findings in a set of 525 HPG cases and 912 controls from Singapore and a further set of 1,374 POAG cases and 4,053 controls from China. We observed genome-wide significant association with more than one SNP at the two loci (P = 2.79 × 10−19 for rs2487032 representing ABCA1 and P = 5.77 × 10−10 for rs3785176 representing PMM2). Both ABCA1 and PMM2 are expressed in the trabecular meshwork, optic nerve and other ocular tissues. In addition, ABCA1 is highly expressed in the ganglion cell layer of the retina, a finding consistent with it having a role in the development of glaucoma.
Persistent Identifierhttp://hdl.handle.net/10722/298108
ISSN
2022 Impact Factor: 30.8
2020 SCImago Journal Rankings: 18.861
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChen, Yuhong-
dc.contributor.authorLin, Ying-
dc.contributor.authorVithana, Eranga N.-
dc.contributor.authorJia, Liyun-
dc.contributor.authorZuo, Xianbo-
dc.contributor.authorWong, Tien Yin-
dc.contributor.authorChen, Li Jia-
dc.contributor.authorZhu, Xianjun-
dc.contributor.authorTam, Pancy O.S.-
dc.contributor.authorGong, Bo-
dc.contributor.authorQian, Shaohong-
dc.contributor.authorLi, Zheng-
dc.contributor.authorLiu, Xiaoqi-
dc.contributor.authorMani, Baskaran-
dc.contributor.authorLuo, Qian-
dc.contributor.authorGuzman, Celeste-
dc.contributor.authorLeung, Christopher K.S.-
dc.contributor.authorLi, Xiaobo-
dc.contributor.authorCao, Wenjun-
dc.contributor.authorYang, Quanyao-
dc.contributor.authorTham, Clement C.Y.-
dc.contributor.authorCheng, Yilian-
dc.contributor.authorZhang, Xuejun-
dc.contributor.authorWang, Ningli-
dc.contributor.authorAung, Tin-
dc.contributor.authorKhor, Chiea Chuen-
dc.contributor.authorPang, Chi Pui-
dc.contributor.authorSun, Xinghuai-
dc.contributor.authorYang, Zhenglin-
dc.date.accessioned2021-04-08T03:07:41Z-
dc.date.available2021-04-08T03:07:41Z-
dc.date.issued2014-
dc.identifier.citationNature Genetics, 2014, v. 46, n. 10, p. 1115-1119-
dc.identifier.issn1061-4036-
dc.identifier.urihttp://hdl.handle.net/10722/298108-
dc.description.abstractWe performed a genome-wide association study for primary open-angle glaucoma (POAG) in 1,007 cases with high-pressure glaucoma (HPG) and 1,009 controls from southern China. We observed genome-wide significant association at multiple SNPs near ABCA1 at 9q31.1 (rs2487032; P = 1.66 × 10−8) and suggestive evidence of association in PMM2 at 16p13.2 (rs3785176; P = 3.18 × 10−6). We replicated these findings in a set of 525 HPG cases and 912 controls from Singapore and a further set of 1,374 POAG cases and 4,053 controls from China. We observed genome-wide significant association with more than one SNP at the two loci (P = 2.79 × 10−19 for rs2487032 representing ABCA1 and P = 5.77 × 10−10 for rs3785176 representing PMM2). Both ABCA1 and PMM2 are expressed in the trabecular meshwork, optic nerve and other ocular tissues. In addition, ABCA1 is highly expressed in the ganglion cell layer of the retina, a finding consistent with it having a role in the development of glaucoma.-
dc.languageeng-
dc.relation.ispartofNature Genetics-
dc.titleCommon variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma-
dc.typeArticle-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1038/ng.3078-
dc.identifier.pmid25173107-
dc.identifier.scopuseid_2-s2.0-84922012097-
dc.identifier.volume46-
dc.identifier.issue10-
dc.identifier.spage1115-
dc.identifier.epage1119-
dc.identifier.eissn1546-1718-
dc.identifier.isiWOS:000342554100015-
dc.identifier.issnl1061-4036-

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