التفاصيل البيبلوغرافية
العنوان:
Genome-wide significant risk associations for mucinous ovarian carcinoma
المؤلفون:
Jenny Lester , Arif B. Ekici , Xiao-Ou Shu , Georgia Chenevix-Trench , Julie M. Cunningham , Catherine M. Phelan , Tassja J. Spindler , Shelley S. Tworoger , Allan Jensen , Diana Eccles , Wei Zheng , Satoyo Hosono , Svend Aage Engelholm , Linda S. Cook , Thomas A. Sellers , John R. McLaughlin , Matthias W. Beckmann , Elizabeth M. Poole , Ignace Vergote , Francesmary Modugno , Jennifer A. Doherty , Sandrina Lambrechts , Lara Sucheston , Wang Gohrke Shan , Rosalind Glasspool , Barry P. Rosen , Pamela J. Thompson , Christine Walsh , Camilla Krakstad , Jennifer Permuth-Wey , Hoda Anton-Culver , Ralf Bützow , Ed Dicks , Yin Ling Woo , Honglin Song , Qiyuan Li , Leon F.A.G. Massuger , Yurii B. Shvetsov , Joellen M. Schildkraut , Xiaoqing Chen , Hannah P. Yang , Graham G. Giles , Sara H. Olson , Edwin S. Iversen , Claus Høgdall , Jacek Grownwald , Fiona Bruinsma , Peter Hillemanns , Iwona K. Rzepecka , Douglas T. Easton , Robert P. Edwards , Lynne R. Wilkens , Yukie Bean , Y. Ann Chen , Jonathan Tyrer , Tanja Pejovic , Patricia Harrington , Iain A. McNeish , Steven A. Narod , Joanna Moes-Sosnowska , Hanis Nazihah Hasmad , Ji-Heui Seo , Line Bjørge , Peter A. Fasching , Daniel W. Cramer , Florian Heitz , Beth Y. Karlan , Cezary Cybulski , Simon A. Gayther , Jolanta Kupryjanczyk , Nhu D. Le , Alexander Hein , Soo Hwang Teo , Nicolas Wentzensen , Valerie McGuire , Michelle A.T. Hildebrandt , Argyrios Ziogas , Heli Nevanlinna , Karen H. Lu , Diether Lambrechts , Kirsten B. Moysich , Jonathan Beesley , Kate Lawrenson , Ian G. Campbell , Andrew Berchuck , Philipp Harter , Lene Lundvall , Sandra Orsulic , Kathryn L. Terry , Jolanta Lissowska , Helen Baker , Matthew L. Freedman , Linda E. Kelemen , Maria Bisogna , Celeste Leigh Pearce , Ira Schwaab , Elisa V. Bandera , Kristine G. Wicklund , Arto Leminen , Nadeem Siddiqui , Joseph H. Rothstein , Melissa Kellar , Matthias Dürst , Harvey A. Risch , Włodzimierz Sawicki , Katja K.H. Aben , Alice S. Whittemore , Kunle Odunsi , Shashi Lele , Noor Azmi Mat Adenan , Susanne K. Kjaer , Robert A. Vierkant , Jan Lubinski , Natalia Bogdanova , Helga B. Salvesen , Anja Rudolph , Els Van Nieuwenhuysen , Irene Orlow , Joe Dennis , Ingvild L. Tangen , Estrid Høgdall , Alice W. Lee , Roberta B. Ness , James Paul , Malcolm C. Pike , Rachel Palmieri Weber , Anna H. Wu , Agnieszka Dansonka-Mieszkowska , Melissa C. Southey , Natalia Antonenkova , Anne M. van Altena , Xifeng Wu , Keitaro Matsuo , Anna Jakubowska , Paul D.P. Pharoah , Weiva Sieh , Lambertus A. Kiemeney , Lotte Nedergaard , Ursula Eilber , Janet M. Lee , Zhihua Chen , Andreas du Bois , Joseph L. Kelley , Aleksandra Gentry-Maharaj , Jenny Chang-Claude , Ellen L. Goode , Bu Tian Ji , Liisa M. Pelttari , Usha Menon , Dong Liang , Yu-Tang Gao , Brooke L. Fridley , Mary Anne Rossing , Thilo Dörk , Douglas A. Levine , Louise A. Brinton , Marc T. Goodman , Angela Brooks-Wilson , Ingo B. Runnebaum , Karen Carty , Susan J. Ramus
المصدر:
Nature Genetics, 47, 8, pp. 888-97
بيانات النشر:
Springer Science and Business Media LLC, 2015.
سنة النشر:
2015
مصطلحات موضوعية:
Green Fluorescent Proteins , Molecular Sequence Data , Quantitative Trait Loci , Single-nucleotide polymorphism , Genome-wide association study , Quantitative trait locus , Biology , Polymorphism, Single Nucleotide , Article , 03 medical and health sciences , 0302 clinical medicine , Risk Factors , Cell Line, Tumor , Ovarian carcinoma , Genetics , medicine , Humans , Genetic Predisposition to Disease , Genetic Association Studies , 030304 developmental biology , Genetic association , Cell Nucleus , Homeodomain Proteins , Ovarian Neoplasms , 0303 health sciences , Base Sequence , Reverse Transcriptase Polymerase Chain Reaction , medicine.disease , Adenocarcinoma, Mucinous , Neoplasm Proteins , Women's cancers Radboud Institute for Health Sciences [Radboudumc 17] , 3. Good health , Gene Expression Regulation, Neoplastic , Microscopy, Fluorescence , Chromosomes, Human, Pair 2 , Urological cancers Radboud Institute for Health Sciences [Radboudumc 15] , 030220 oncology & carcinogenesis , Expression quantitative trait loci , Cancer research , Adenocarcinoma , Female , Ovarian cancer , Genome-Wide Association Study
الوصف:
Genome-wide association studies have identified several risk associations for ovarian carcinomas (OC) but not for mucinous ovarian carcinomas (MOC). Genotypes from OC cases and controls were imputed into the 1000 Genomes Project reference panel. Analysis of 1,644 MOC cases and 21,693 controls identified three novel risk associations: rs752590 at 2q13 (P = 3.3 × 10−8), rs711830 at 2q31.1 (P = 7.5 × 10−12) and rs688187 at 19q13.2 (P = 6.8 × 10−13). Expression Quantitative Trait Locus (eQTL) analysis in ovarian and colorectal tumors (which are histologically similar to MOC) identified significant eQTL associations for HOXD9 at 2q31.1 in ovarian (P = 4.95 × 10−4, FDR = 0.003) and colorectal (P = 0.01, FDR = 0.09) tumors, and for PAX8 at 2q13 in colorectal tumors (P = 0.03, FDR = 0.09). Chromosome conformation capture analysis identified interactions between the HOXD9 promoter and risk SNPs at 2q31.1. Overexpressing HOXD9 in MOC cells augmented the neoplastic phenotype. These findings provide the first evidence for MOC susceptibility variants and insights into the underlying biology of the disease.
تدمد:
1546-1718
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::308129e438ba7010e1c7f535287c93abTest https://doi.org/10.1038/ng.3336Test
حقوق:
OPEN
رقم الانضمام:
edsair.doi.dedup.....308129e438ba7010e1c7f535287c93ab
قاعدة البيانات:
OpenAIRE
