Genome-wide association meta-analysis identifies new endometriosis risk loci
We conducted a genome-wide association (GWA) meta-analysis of 4,604 endometriosis cases and 9,393 controls of Japanese1 and European2 ancestry. We show that rs12700667 on chromosome 7p15.2, previously found in Europeans, replicates in Japanese (P = 3.6 × 10−3), and confirm association of rs7521902 o...
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| Format: | Online |
| Language: | English |
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2012
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3527416/ |
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pubmed-35274162012-12-20 Genome-wide association meta-analysis identifies new endometriosis risk loci Nyholt, Dale R. Low, Siew-Kee Anderson, Carl A. Painter, Jodie N. Uno, Satoko Morris, Andrew P. MacGregor, Stuart Gordon, Scott D. Henders, Anjali K. Martin, Nicholas G. Attia, John Holliday, Elizabeth G. McEvoy, Mark Scott, Rodney J. Kennedy, Stephen H. Treloar, Susan A. Missmer, Stacey A. Adachi, Sosuke Tanaka, Kenichi Nakamura, Yusuke Zondervan, Krina T. Zembutsu, Hitoshi Montgomery, Grant W. Article We conducted a genome-wide association (GWA) meta-analysis of 4,604 endometriosis cases and 9,393 controls of Japanese1 and European2 ancestry. We show that rs12700667 on chromosome 7p15.2, previously found in Europeans, replicates in Japanese (P = 3.6 × 10−3), and confirm association of rs7521902 on 1p36.12 near WNT4. In addition, we establish association of rs13394619 in GREB1 on 2p25.1 and identify a novel locus on 12q22 near VEZT (rs10859871). Excluding European cases with minimal or unknown severity, we identified additional novel loci on 2p14 (rs4141819), 6p22.3 (rs7739264) and 9p21.3 (rs1537377). All seven SNP effects were replicated in an independent cohort and produced P < 5 × 10−8 in a combined analysis. Finally, we found a significant overlap in polygenic risk for endometriosis between the European and Japanese GWA cohorts (P = 8.8 × 10−11), indicating that many weakly associated SNPs represent true endometriosis risk loci and risk prediction and future targeted disease therapy may be transferred across these populations. 2012-10-28 2012-12 /pmc/articles/PMC3527416/ /pubmed/23104006 http://dx.doi.org/10.1038/ng.2445 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Nyholt, Dale R. Low, Siew-Kee Anderson, Carl A. Painter, Jodie N. Uno, Satoko Morris, Andrew P. MacGregor, Stuart Gordon, Scott D. Henders, Anjali K. Martin, Nicholas G. Attia, John Holliday, Elizabeth G. McEvoy, Mark Scott, Rodney J. Kennedy, Stephen H. Treloar, Susan A. Missmer, Stacey A. Adachi, Sosuke Tanaka, Kenichi Nakamura, Yusuke Zondervan, Krina T. Zembutsu, Hitoshi Montgomery, Grant W. |
| spellingShingle |
Nyholt, Dale R. Low, Siew-Kee Anderson, Carl A. Painter, Jodie N. Uno, Satoko Morris, Andrew P. MacGregor, Stuart Gordon, Scott D. Henders, Anjali K. Martin, Nicholas G. Attia, John Holliday, Elizabeth G. McEvoy, Mark Scott, Rodney J. Kennedy, Stephen H. Treloar, Susan A. Missmer, Stacey A. Adachi, Sosuke Tanaka, Kenichi Nakamura, Yusuke Zondervan, Krina T. Zembutsu, Hitoshi Montgomery, Grant W. Genome-wide association meta-analysis identifies new endometriosis risk loci |
| author_facet |
Nyholt, Dale R. Low, Siew-Kee Anderson, Carl A. Painter, Jodie N. Uno, Satoko Morris, Andrew P. MacGregor, Stuart Gordon, Scott D. Henders, Anjali K. Martin, Nicholas G. Attia, John Holliday, Elizabeth G. McEvoy, Mark Scott, Rodney J. Kennedy, Stephen H. Treloar, Susan A. Missmer, Stacey A. Adachi, Sosuke Tanaka, Kenichi Nakamura, Yusuke Zondervan, Krina T. Zembutsu, Hitoshi Montgomery, Grant W. |
| author_sort |
Nyholt, Dale R. |
| title |
Genome-wide association meta-analysis identifies new endometriosis risk loci |
| title_short |
Genome-wide association meta-analysis identifies new endometriosis risk loci |
| title_full |
Genome-wide association meta-analysis identifies new endometriosis risk loci |
| title_fullStr |
Genome-wide association meta-analysis identifies new endometriosis risk loci |
| title_full_unstemmed |
Genome-wide association meta-analysis identifies new endometriosis risk loci |
| title_sort |
genome-wide association meta-analysis identifies new endometriosis risk loci |
| description |
We conducted a genome-wide association (GWA) meta-analysis of 4,604 endometriosis cases and 9,393 controls of Japanese1 and European2 ancestry. We show that rs12700667 on chromosome 7p15.2, previously found in Europeans, replicates in Japanese (P = 3.6 × 10−3), and confirm association of rs7521902 on 1p36.12 near WNT4. In addition, we establish association of rs13394619 in GREB1 on 2p25.1 and identify a novel locus on 12q22 near VEZT (rs10859871). Excluding European cases with minimal or unknown severity, we identified additional novel loci on 2p14 (rs4141819), 6p22.3 (rs7739264) and 9p21.3 (rs1537377). All seven SNP effects were replicated in an independent cohort and produced P < 5 × 10−8 in a combined analysis. Finally, we found a significant overlap in polygenic risk for endometriosis between the European and Japanese GWA cohorts (P = 8.8 × 10−11), indicating that many weakly associated SNPs represent true endometriosis risk loci and risk prediction and future targeted disease therapy may be transferred across these populations. |
| publishDate |
2012 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3527416/ |
| _version_ |
1611942035012452352 |