Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma
Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from...
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| Formato: | Journal Article |
| Idioma: | inglês |
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2018
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| Acesso em linha: | https://demo7.dspace.org/handle/123456789/224 |
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| _version_ | 1860822454904029184 |
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| author | Simmons, Cameron |
| author_browse | Simmons, Cameron |
| author_facet | Simmons, Cameron |
| author_sort | Simmons, Cameron |
| collection | DSpace |
| description | Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.33×10(-12)), rs3753841 in COL11A1 (per-allele OR=1.20; P=9.22×10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR=1.50; P=3.29×10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG. |
| format | Journal Article |
| id | oai:localhost:123456789-224 |
| institution | DSPACE.FCHPT |
| language | English |
| publishDate | 2018 |
| publishDateRange | 2018 |
| publishDateSort | 2018 |
| record_format | dspace |
| spelling | oai:localhost:123456789-2242021-04-07T16:30:08Z Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma Simmons, Cameron Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.33×10(-12)), rs3753841 in COL11A1 (per-allele OR=1.20; P=9.22×10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR=1.50; P=3.29×10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG. 2018-09-14T11:15:10Z 2017-07-12T03:58:34Z 2018-09-14T11:15:10Z 2012-08-01 2012-08-01 2012-08-01 2012-08-01 2012-08-01 2012-08-01 2012-08-01 2012-08-01 2012-08-01 2012-08-01 2012-10-01 Journal Article https://demo7.dspace.org/handle/123456789/224 English |
| spellingShingle | Simmons, Cameron Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma |
| title | Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma |
| title_full | Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma |
| title_fullStr | Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma |
| title_full_unstemmed | Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma |
| title_short | Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma |
| title_sort | genome wide association analyses identify three new susceptibility loci for primary angle closure glaucoma |
| url | https://demo7.dspace.org/handle/123456789/224 |
| work_keys_str_mv | AT simmonscameron genomewideassociationanalysesidentifythreenewsusceptibilitylociforprimaryangleclosureglaucoma |