Genome-wide association study identifies a common variant associated with risk of endometrial cancer

Spurdle, Amanda B., Thompson, Deborah J., Ahmed, Shahana, Ferguson, Kaltin, Healey, Catherine S., O'Mara, Tracy, Walker, Logan C., Montgomery, Stephen B., Dermitzakis, Emmanouil T., The Australian National Endometrial Cancer Study Group, Fahey, Paul, Montgomery, Grant W., Webb, Penelope M., Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Hein, Alexander, Lambrechts, Diether, Coenegrachts, Lieve, Vergote, Ignace, Amant, Frederic, Salvesen, Helga B., Trovik, Jone, Njolstad, Tormund S., Helland, Harald, Scott, Rodney J., Ashton, Katie, Proietto, Tony, Otton, Geoffrey, National Study of Endometrial Cancer Genetics Group, Tomlinson, Ian, Gorman, Maggie, Howarth, Kimberley, Hodgson, Shirley, Garcia-Closas, Montserrat, Wentzensen, Nicolas, Yang, Hannah, Chanock, Stephen, Hall, Per, Czene, Kamila, Liu, Jianjun, Li, Jingmei, Shu, Xiao-Ou, Zheng, Wei, Long, Jirong, Xiang, Yong-Bing, Shah, Mitul, Morrison, Jonathan, Michailidou, Kyriaki, Pharoah, Paul D., Dunning, Alison M. and Easton, Douglas F. (2011) Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nature Genetics, 43 5: 451-454. doi:10.1038/ng.812

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Author Spurdle, Amanda B.
Thompson, Deborah J.
Ahmed, Shahana
Ferguson, Kaltin
Healey, Catherine S.
O'Mara, Tracy
Walker, Logan C.
Montgomery, Stephen B.
Dermitzakis, Emmanouil T.
The Australian National Endometrial Cancer Study Group
Fahey, Paul
Montgomery, Grant W.
Webb, Penelope M.
Fasching, Peter A.
Beckmann, Matthias W.
Ekici, Arif B.
Hein, Alexander
Lambrechts, Diether
Coenegrachts, Lieve
Vergote, Ignace
Amant, Frederic
Salvesen, Helga B.
Trovik, Jone
Njolstad, Tormund S.
Helland, Harald
Scott, Rodney J.
Ashton, Katie
Proietto, Tony
Otton, Geoffrey
National Study of Endometrial Cancer Genetics Group
Tomlinson, Ian
Gorman, Maggie
Howarth, Kimberley
Hodgson, Shirley
Garcia-Closas, Montserrat
Wentzensen, Nicolas
Yang, Hannah
Chanock, Stephen
Hall, Per
Czene, Kamila
Liu, Jianjun
Li, Jingmei
Shu, Xiao-Ou
Zheng, Wei
Long, Jirong
Xiang, Yong-Bing
Shah, Mitul
Morrison, Jonathan
Michailidou, Kyriaki
Pharoah, Paul D.
Dunning, Alison M.
Easton, Douglas F.
Title Genome-wide association study identifies a common variant associated with risk of endometrial cancer
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2011-05-01
Year available 2011
Sub-type Article (original research)
DOI 10.1038/ng.812
Open Access Status DOI
Volume 43
Issue 5
Start page 451
End page 454
Total pages 4
Place of publication New York, NY, U.S.A.
Publisher Nature Publishing Group
Language eng
Abstract To date, no genome-wide association study (GWAS) has considered the combined phenotype of asthma with hay fever. Previous analyses of family data from the Tasmanian Longitudinal Health Study provide evidence that this phenotype has a stronger genetic cause than asthma without hay fever.
Formatted abstract
Endometrial cancer is the most common malignancy of the female genital tract in developed countries. To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study involving 1,265 individuals with endometrial cancer (cases) from Australia and the UK and 5,190 controls from the Wellcome Trust Case Control Consortium. We compared genotype frequencies in cases and controls for 519,655 SNPs. Forty seven SNPs that showed evidence of association with endometrial cancer in stage 1 were genotyped in 3,957 additional cases and 6,886 controls. We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1 × 10−10) that is also associated with risk of prostate cancer and is inversely associated with risk of type 2 diabetes.
Keyword Rhinitis
genetic correlation
single nucleotide polymorphism
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID R01 AA007535
R01 AA014041
K05 AA017688
R01 MH066206
P60 AA011998
P50 AA011998
R01 AA007728
R01 AA013326
R56 DA012854
R01 AA013321
R43 HL115873
R01 DA012854
R01 AA010249
R37 AA007728
R25 DA027995
R01 AA013320
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2012 Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 76 times in Thomson Reuters Web of Science Article | Citations
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Created: Wed, 24 Aug 2011, 23:18:39 EST by Vicki Percival on behalf of School of Medicine