Abstract
Endometriosis is a common complex condition with an estimated heritability of 50%. The largest meta-analysis of genome-wide association studies (GWAS) for endometriosis to date, including 17K cases, identified 14 genome-wide significant loci (p<5x10-8) together explaining only 5% of the heritability. In ongoing analyses we are substantially increasing sample size by including novel datasets such as the UK Biobank. The UK Biobank involves medical records and self-reported questionnaire data on 500,000 volunteer participants, for which the full genotype data, imputed up to the HRC reference panel, has been recently released.
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Large-scale data analysis on endometriosis from the UK Biobank reveals novel genetic loci
- Abstract:
- Endometriosis is a common complex condition with an estimated heritability of 50%. The largest meta-analysis of genome-wide association studies (GWAS) for endometriosis to date, including 17K cases, identified 14 genome-wide significant loci (p<5x10-8) together explaining only 5% of the heritability. In ongoing analyses we are substantially increasing sample size by including novel datasets such as the UK Biobank. The UK Biobank involves medical records and self-reported questionnaire data on 500,000 volunteer participants, for which the full genotype data, imputed up to the HRC reference panel, has been recently released.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Accepted manuscript, pdf, 262.7KB, Terms of use)
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- Publisher copy:
- 10.1177/1933719118759999
Authors
- Publisher:
- SAGE Publications
- Host title:
- 65th Annual Meeting of the Society for Reproductive Investigation (SRI 2018)
- Journal:
- 65th Annual Meeting of the Society for Reproductive Investigation (SRI 2018) More from this journal
- Publication date:
- 2018-02-28
- Acceptance date:
- 2017-12-27
- DOI:
- ISSN:
-
1933-7191, 1933-7205
- Keywords:
- Pubs id:
-
pubs:846255
- UUID:
-
uuid:c566a3d6-b0c3-42ae-a16e-0b4705a104fe
- Local pid:
-
pubs:846255
- Source identifiers:
-
846255
- Deposit date:
-
2018-06-16
- ARK identifier:
Terms of use
- Copyright holder:
- Society for Reproductive Investigation
- Copyright date:
- 2018
- Notes:
- Copyright © 2018 by Society for Reproductive Investigation. This is the accepted manuscript version of the article. The final version is available online from SAGE Publications at: https://doi.org/10.1177/1933719118759999
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