Genetic Epidemiology, Translational Neurogenomics, Psychiatric 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.
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PMID
27135401
TITLE
Five endometrial cancer risk loci identified through genome-wide association analysis.
ABSTRACT
NlmCategory: UNASSIGNED
We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation and meta-analysis identified five new risk loci of genome-wide significance at likely regulatory regions on chromosomes 13q22.1 (rs11841589, near KLF5), 6q22.31 (rs13328298, in LOC643623 and near HEY2 and NCOA7), 8q24.21 (rs4733613, telomeric to MYC), 15q15.1 (rs937213, in EIF2AK4, near BMF) and 14q32.33 (rs2498796, in AKT1, near SIVA1). We also found a second independent 8q24.21 signal (rs17232730). Functional studies of the 13q22.1 locus showed that rs9600103 (pairwise r(2) = 0.98 with rs11841589) is located in a region of active chromatin that interacts with the KLF5 promoter region. The rs9600103[T] allele that is protective in endometrial cancer suppressed gene expression in vitro, suggesting that regulation of the expression of KLF5, a gene linked to uterine development, is implicated in tumorigenesis. These findings provide enhanced insight into the genetic and biological basis of endometrial cancer.
DATE PUBLISHED
2016 May 2
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2015/08/26
accepted 2016/04/08
entrez 2016/05/03 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Cheng TH Cheng Timothy H T TH Oxford Centre for Cancer Gene Research, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Thompson DJ Thompson Deborah J DJ Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
O'Mara TA O'Mara Tracy A TA Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Painter JN Painter Jodie N JN Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Glubb DM Glubb Dylan M DM Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Flach S Flach Susanne S Oxford Centre for Cancer Gene Research, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Lewis A Lewis Annabelle A Oxford Centre for Cancer Gene Research, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
French JD French Juliet D JD Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Freeman-Mills L Freeman-Mills Luke L Oxford Centre for Cancer Gene Research, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Church D Church David D Oxford Centre for Cancer Gene Research, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Gorman M Gorman Maggie M Oxford Centre for Cancer Gene Research, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Martin L Martin Lynn L Oxford Centre for Cancer Gene Research, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
National Study of Endometrial Cancer Genetics Group (NSECG)
Hodgson S Hodgson Shirley S Department of Clinical Genetics, St George's, University of London, London, UK.
Webb PM Webb Penelope M PM Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Australian National Endometrial Cancer Study Group (ANECS)
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.
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.
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.
Scott RJ Scott Rodney J RJ School of Biomedical Sciences and Pharmacy, University of Newcastle, Newcastle, New South Wales, Australia.
Henders AK Henders Anjali K AK Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Martin NG Martin Nicholas G NG Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Montgomery GW Montgomery Grant W GW Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Nyholt DR Nyholt Dale R DR Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Queensland, Australia.
Ahmed S Ahmed Shahana S Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Healey CS Healey Catherine S CS Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Shah M Shah Mitul M Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Dennis J Dennis Joe J Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Fasching PA Fasching Peter A PA Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Erlangen, Germany.
Beckmann MW Beckmann Matthias W MW Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Erlangen, Germany.
Hein A Hein Alexander A Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Erlangen, Germany.
Ekici AB Ekici Arif B AB Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Erlangen, Germany.
Hall P Hall Per P Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Czene K Czene Kamila K Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Darabi H Darabi Hatef H Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Li J Li Jingmei J Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Dörk T Dörk Thilo T Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Dürst M Dürst Matthias M Department of Gynaecology, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Hillemanns P Hillemanns Peter P Clinics of Gynaecology and Obstetrics, Hannover Medical School, Hannover, Germany.
Runnebaum I Runnebaum Ingo I Department of Gynaecology, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Amant F Amant Frederic F Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University Hospitals, KU Leuven, University of Leuven, Leuven, Belgium.
Schrauwen S Schrauwen Stefanie S Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University Hospitals, KU Leuven, University of Leuven, Leuven, Belgium.
Zhao H Zhao Hui H Laboratory for Translational Genetics, Department of Oncology, University Hospitals Leuven, Leuven, Belgium.
Lambrechts D Lambrechts Diether D Laboratory for Translational Genetics, Department of Oncology, University Hospitals Leuven, Leuven, Belgium.
Depreeuw J Depreeuw Jeroen J Laboratory for Translational Genetics, Department of Oncology, University Hospitals Leuven, Leuven, Belgium.
Dowdy SC Dowdy Sean C SC Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Mayo Clinic, Rochester, Minnesota, USA.
Goode EL Goode Ellen L EL Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Fridley BL Fridley Brooke L BL Department of Biostatistics, University of Kansas Medical Center, Kansas City, Kansas, USA.
Winham SJ Winham Stacey J SJ Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Njølstad TS Njølstad Tormund S TS Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway.
Salvesen HB Salvesen Helga B HB Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway.
Trovik J Trovik Jone J Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway.
Werner HM Werner Henrica M J HM Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway.
Ashton K Ashton Katie K School of Biomedical Sciences and Pharmacy, University of Newcastle, Newcastle, New South Wales, Australia.
Otton G Otton Geoffrey G School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia.
Proietto T Proietto Tony T School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia.
Liu T Liu Tao T Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Mints M Mints Miriam M Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
Tham E Tham Emma E Department of Clinical Genetics, Karolinska University Hospital Solna, Stockholm, Sweden.
RENDOCAS
CHIBCHA Consortium
Li MJ Li Mulin Jun MJ Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China.
Yip SH Yip Shun H SH Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China.
Wang J Wang Junwen J Department of Biomedical Informatics, Arizona State University, Scottsdale, Arizona, USA.
Bolla MK Bolla Manjeet K MK Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Michailidou K Michailidou Kyriaki K Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Wang Q Wang Qin Q Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Tyrer JP Tyrer Jonathan P JP Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Dunlop M Dunlop Malcolm M MRC Human Genetics Unit, Western General Hospital Edinburgh, Edinburgh, UK.
Houlston R Houlston Richard R Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Palles C Palles Claire C Oxford Centre for Cancer Gene Research, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Hopper JL Hopper John L JL Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.
AOCS Group
Peto J Peto Julian J London School of Hygiene and Tropical Medicine, London, UK.
Swerdlow AJ Swerdlow Anthony J AJ Division of Breast Cancer Research, Institute of Cancer Research, London, UK.
Burwinkel B Burwinkel Barbara B Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Brenner H Brenner Hermann H German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
Meindl A Meindl Alfons A Division of Tumor Genetics, Department of Obstetrics and Gynecology, Technical University of Munich, Munich, Germany.
Brauch H Brauch Hiltrud H University of Tübingen, Tübingen, Germany.
Lindblom A Lindblom Annika A Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Chang-Claude J Chang-Claude Jenny J University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Couch FJ Couch Fergus J FJ Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Giles GG Giles Graham G GG Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Victoria, Australia.
Kristensen VN Kristensen Vessela N VN Department of Clinical Molecular Oncology, Division of Medicine, Akershus University Hospital, Lørenskog, Norway.
Cox A Cox Angela A Sheffield Cancer Research, Department of Oncology, University of Sheffield, Sheffield, UK.
Cunningham JM Cunningham Julie M JM Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Pharoah PD Pharoah Paul D P PD Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Dunning AM Dunning Alison M AM Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Edwards SL Edwards Stacey L SL Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Easton DF Easton Douglas F DF Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Tomlinson I Tomlinson Ian I Oxford Centre for Cancer Gene Research, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Spurdle AB Spurdle Amanda B AB Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
INVESTIGATORS
JOURNAL
VOLUME:
ISSUE:
TITLE: Nature genetics
ISOABBREVIATION: Nat. Genet.
YEAR: 2016
MONTH: May
DAY: 2
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1546-1718
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Nat Genet
COUNTRY: United States
ISSNLINKING: 1061-4036
NLMUNIQUEID: 9216904
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JOURNAL ARTICLE
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