Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
QIMR Home Page
GenEpi Home Page
Publications
Contacts
Research
Staff Index
Collaborators
Software Tools
Computing Resources
Studies
Search
GenEpi Intranet
PMID
25882541
TITLE
Genetic burden associated with varying degrees of disease severity in endometriosis.
ABSTRACT
Endometriosis is primarily characterized by the presence of tissue resembling endometrium outside the uterine cavity and is usually diagnosed by laparoscopy. The most commonly used classification of disease, the revised American Fertility Society (rAFS) system to grade endometriosis into different stages based on disease severity (I to IV), has been questioned as it does not correlate well with underlying symptoms, posing issues in diagnosis and choice of treatment. Using two independent European genome-wide association (GWA) datasets and top-level classification of the endometriosis cases based on rAFS [minimal or mild (Stage A) and moderate-to-severe (Stage B) disease], we previously showed that Stage B endometriosis has greater contribution of common genetic variation to its aetiology than Stage A disease. Herein, we extend our previous analysis to four endometriosis stages [minimal (Stage I), mild (Stage II), moderate (Stage III) and severe (Stage IV) disease] based on the rAFS classification system and compared the genetic burden across stages. Our results indicate that genetic burden increases from minimal to severe endometriosis. For the minimal disease, genetic factors may contribute to a lesser extent than other disease categories. Mild and moderate endometriosis appeared genetically similar, making it difficult to tease them apart. Consistent with our previous reports, moderate and severe endometriosis showed greater genetic burden than minimal or mild disease. Overall, our results provide new insights into the genetic architecture of endometriosis and further investigation in larger samples may help to understand better the aetiology of varying degrees of endometriosis, enabling improved diagnostic and treatment modalities.
The Author 2015. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
DATE PUBLISHED
2015 Jul
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2015/02/17
accepted 2015/04/10
aheadofprint 2015/04/16
entrez 2015/04/18 06:00
pubmed 2015/04/18 06:00
medline 2015/04/18 06:00
pmc-release 2016/07/01 00:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Sapkota Y Sapkota Yadav Y QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia yadav.sapkota@qimrberghofer.edu.au.
Attia J Attia John J Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia Public Health Research Program, Hunter Medical Research Institute, Newcastle, New South Wales, Australia.
Gordon SD Gordon Scott D SD QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Henders AK Henders Anjali K AK QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Holliday EG Holliday Elizabeth G EG Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia Public Health Research Program, Hunter Medical Research Institute, Newcastle, New South Wales, Australia.
Rahmioglu N Rahmioglu Nilufer N Genetic and Genomic Epidemiology Unit, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
MacGregor S MacGregor Stuart S QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
McEvoy M McEvoy Mark M Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia Public Health Research Program, Hunter Medical Research Institute, Newcastle, New South Wales, Australia.
Morris AP Morris Andrew P AP Genetic and Genomic Epidemiology Unit, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Scott RJ Scott Rodney J RJ Public Health Research Program, Hunter Medical Research Institute, Newcastle, New South Wales, Australia School of Biomedical Sciences and Pharmacy, University of Newcastle, Newcastle, New South Wales, Australia Division of Genetics, Hunter Area Pathology Service, Newcastle, New South Wales, Australia.
Zondervan KT Zondervan Krina T KT Genetic and Genomic Epidemiology Unit, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK Nuffield Department of Obstetrics and Gynaecology, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Montgomery GW Montgomery Grant W GW QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Nyholt DR Nyholt Dale R DR QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Queensland, Australia.
INVESTIGATORS
JOURNAL
VOLUME: 21
ISSUE: 7
TITLE: Molecular human reproduction
ISOABBREVIATION: Mol. Hum. Reprod.
YEAR: 2015
MONTH: Jul
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1460-2407
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Mol Hum Reprod
COUNTRY: England
ISSNLINKING: 1360-9947
NLMUNIQUEID: 9513710
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
Cites Fertil Steril. 1985 Mar;43(3):351-2 3979573
Cites Am J Epidemiol. 2004 Oct 15;160(8):784-96 15466501
Cites J Reprod Med. 1992 Jul;37(7):620-4 1522570
Cites N Engl J Med. 1993 Jun 17;328(24):1759-69 8110213
Cites Hosp Pract (Off Ed). 1993 Oct 30;28(10A):15-6, 20-2, 31 8408346
Cites Fertil Steril. 1997 May;67(5):817-21 9130884
Cites Obstet Gynecol Clin North Am. 1997 Jun;24(2):331-46 9163770
Cites Fertil Steril. 1997 Jul;68(1):13-8 9207577
Cites J Reprod Med. 1998 Mar;43(3 Suppl):252-62 9564658
Cites Fertil Steril. 1999 Apr;71(4):701-10 10202882
Cites Zentralbl Gynakol. 2005 Oct;127(5):275-81 16195969
Cites Fertil Steril. 2006 Dec;86(6):1561-72 17056043
Cites Hum Reprod Update. 2008 Sep-Oct;14(5):447-57 18535005
Cites Nature. 2009 Aug 6;460(7256):748-52 19571811
Cites Hum Reprod. 2010 Jun;25(6):1528-35 20332166
Cites Fam Cancer. 2010 Sep;9(3):383-7 20087665
Cites Fertil Steril. 2010 Oct;94(5):1609-15 19931076
Cites Int J Epidemiol. 2010 Dec;39(6):1452-63 20056765
Cites Nat Genet. 2011 Jan;43(1):51-4 21151130
Cites Nat Genet. 2012 Dec;44(12):1355-9 23104006
Cites Hum Mol Genet. 2013 Feb 15;22(4):832-41 23193196
Cites Fertil Steril. 2014 Apr;101(4):927-35 24630080
Cites Hum Reprod. 2013 Jun;28(6):1552-68 23528916
Cites PLoS Genet. 2013 Mar;9(3):e1003348 23555274
Cites Hum Reprod. 2015 Jan;30(1):239-48 25336714
Cites Gynecol Obstet Invest. 2000;50 Suppl 1:44-50 11093061
Cites Hum Reprod Update. 2001 Jan-Feb;7(1):15-20 11212068
Cites Semin Reprod Med. 2003 May;21(2):193-208 12917789
Cites Obstet Gynecol. 1990 Jun;75(6):1023-8 2188180
GRANTS
GRANTID AGENCY COUNTRY
076113 Wellcome Trust United Kingdom
084766 Wellcome Trust United Kingdom
085235 Wellcome Trust United Kingdom
085475 Wellcome Trust United Kingdom
WT084766/Z/08/Z Wellcome Trust United Kingdom
WT085235/Z/08/Z Wellcome Trust United Kingdom
GENERAL NOTE
KEYWORDS
KEYWORD
endometriosis
genetic burden
genome-wide association studies
polygenic prediction
rAFS classification system
MESH HEADINGS
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
OTHERID SOURCE
PMC4487449 [Available on 07/01/16] NLM