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Genome-wide association meta-analysis identifies new endometriosis risk loci

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Title:	Genome-wide association meta-analysis identifies new endometriosis risk loci
Authors:	Nicholas G. Martin, Anjali K. Henders, Sosuke Adachi, Stuart MacGregor, Kenichi Tanaka, Stephen M Kennedy, Scott D. Gordon, John Attia, Susan A. Treloar, Yusuke Nakamura, Satoko Uno, Carl A. Anderson, Jodie N. Painter, Hitoshi Zembutsu, Rodney J. Scott, Dale R. Nyholt, Stacey A. Missmer, Mark McEvoy, Andrew P. Morris, Siew-Kee Low, Elizabeth G. Holliday, Grant W. Montgomery, Krina T. Zondervan
Contributors:	The University of Newcastle. Faculty of Health & Medicine, School of Medicine and Public Health
Source:	Nat Genet
Publisher Information:	Springer Science and Business Media LLC, 2012.
Publication Year:	2012
Subject Terms:	endometriosis, 0301 basic medicine, Carrier Proteins/genetics, Pair 6/genetics, Pair 9/genetics, Genetic Loci, Severity of Illness Index, Cohort Studies, 0302 clinical medicine, Neoplasm Proteins/genetics, Genome-Wide Association Study, European Continental Ancestry Group/genetics, Cancer, Single Nucleotide, European women, Neoplasm Proteins, 3. Good health, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 6, Female, Chromosomes, Human, Pair 9, Chromosomes, Human, Pair 7, Human, Risk, Endometriosis, genome-wide association meta-analysis, Polymorphism, Single Nucleotide, Chromosomes, Article, White People, Hmlh1, 03 medical and health sciences, Endometriosis/*genetics, 1311 Genetics, Asian People, Pair 1/genetics, Humans, Asian Continental Ancestry Group/genetics, Genetic Predisposition to Disease, Membrane Proteins/genetics, Polymorphism, Japanese women, genetic variants, Membrane Proteins, Pair 7/genetics, Japanese, Pair 2/genetics, Wnt4 Protein/genetics, Carrier Proteins
Description:	We conducted a genome-wide association meta-analysis of 4,604 endometriosis cases and 9,393 controls of Japanese and European ancestry. We show that rs12700667 on chromosome 7p15.2, previously found to associate with disease in Europeans, replicates in Japanese (P = 3.6 × 10(-3)), and we confirm association of rs7521902 at 1p36.12 near WNT4. In addition, we establish an association of rs13394619 in GREB1 at 2p25.1 with endometriosis and identify a newly associated locus at 12q22 near VEZT (rs10859871). Excluding cases of European ancestry of minimal or unknown severity, we identified additional previously unknown loci at 2p14 (rs4141819), 6p22.3 (rs7739264) and 9p21.3 (rs1537377). All seven SNP effects were replicated in an independent cohort and associated at P
Document Type:	Article Other literature type
File Description:	application/pdf
Language:	English
ISSN:	1546-1718 1061-4036
DOI:	10.1038/ng.2445
Access URL:	https://europepmc.org/articles/pmc3527416?pdf=render https://pubmed.ncbi.nlm.nih.gov/23104006 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3527416/ https://www.ncbi.nlm.nih.gov/pubmed/23104006 http://europepmc.org/abstract/MED/23104006 https://www.obs-gyn.ox.ac.uk/publications/358308 https://genepi.qimr.edu.au/contents/p/staff/Nyholt_2012_NatGenet_Endometriosis_Study.pdf https://espace.library.uq.edu.au/view/UQ:287935 https://ora.ox.ac.uk/objects/uuid:1a2c8697-b67d-411c-a10a-0031743b45cb https://doi.org/10.1038/ng.2445 https://ora.ox.ac.uk/objects/uuid:cc287175-977c-4cd2-9bb7-0d7c8def441f https://doi.org/10.1038/ng.2445
Rights:	Springer TDM implied-oa
Accession Number:	edsair.doi.dedup.....efce1c1e8a9d2f43fd7d277d623d1583
Database:	OpenAIRE

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Abstract:	We conducted a genome-wide association meta-analysis of 4,604 endometriosis cases and 9,393 controls of Japanese and European ancestry. We show that rs12700667 on chromosome 7p15.2, previously found to associate with disease in Europeans, replicates in Japanese (P = 3.6 × 10(-3)), and we confirm association of rs7521902 at 1p36.12 near WNT4. In addition, we establish an association of rs13394619 in GREB1 at 2p25.1 with endometriosis and identify a newly associated locus at 12q22 near VEZT (rs10859871). Excluding cases of European ancestry of minimal or unknown severity, we identified additional previously unknown loci at 2p14 (rs4141819), 6p22.3 (rs7739264) and 9p21.3 (rs1537377). All seven SNP effects were replicated in an independent cohort and associated at P
ISSN:	15461718 10614036
DOI:	10.1038/ng.2445