التفاصيل البيبلوغرافية
| العنوان: |
Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer |
| المؤلفون: |
Lawrenson, Kate, Li, Qiyuan, Kar, Siddhartha, Seo, Ji-Heui, Tyrer, Jonathan, Spindler, Tassja J., Lee, Janet, Chen, Yibu, Karst, Alison, Drapkin, Ronny, Aben, Katja K. H., Anton-Culver, Hoda, Antonenkova, Natalia, Bowtell, David, Webb, Penelope M., deFazio, Anna, Baker, Helen, Bandera, Elisa V., Bean, Yukie, Beckmann, Matthias W., Berchuck, Andrew, Bisogna, Maria, Bjorge, Line, Bogdanova, Natalia, Brinton, Louise A., Brooks-Wilson, Angela, Bruinsma, Fiona, Butzow, Ralf, Campbell, Ian G., Carty, Karen, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Chen, Anne, Chen, Zhihua, Cook, Linda S., Cramer, Daniel W., Cunningham, Julie M., Cybulski, Cezary, Dansonka-Mieszkowska, Agnieszka, Dennis, Joe, Dicks, Ed, Doherty, Jennifer A., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana, Easton, Douglas T., Edwards, Robert P., Eilber, Ursula, Ekici, Arif B., Fasching, Peter A., Fridley, Brooke L., Gao, Yu-Tang, Gentry-Maharaj, Aleksandra, Giles, Graham G., Glasspool, Rosalind, Goode, Ellen L., Goodman, Marc T., Grownwald, Jacek, Harrington, Patricia, Harter, Philipp, Hasmad, Hanis Nazihah, Hein, Alexander, Heitz, Florian, Hildebrandt, Michelle A. T., Hillemanns, Peter, Hogdall, Estrid, Hogdall, Claus, Hosono, Satoyo, Iversen, Edwin S., Jakubowska, Anna, James, Paul, Jensen, Allan, Ji, Bu-Tian, Karlan, Beth Y., Kruger Kjaer, Susanne, Kelemen, Linda E., Kellar, Melissa, Kelley, Joseph L., Kiemeney, Lambertus A., Krakstad, Camilla, Kupryjanczyk, Jolanta, Lambrechts, Diether, Lambrechts, Sandrina, Le, Nhu D., Lee, Alice W., Lele, Shashi, Leminen, Arto, Lester, Jenny, Levine, Douglas A., Liang, Dong, Lissowska, Jolanta, Lu, Karen, Lubinski, Jan, Lundvall, Lene, Massuger, Leon F. A. G., Matsuo, Keitaro, McGuire, Valerie, McLaughlin, John R., Nevanlinna, Heli, McNeish, Ian, Menon, Usha, Modugno, Francesmary, Moysich, Kirsten B., Narod, Steven A., Nedergaard, Lotte, Ness, Roberta B., Azmi, Mat Adenan Noor, Odunsi, Kunle, Olson, Sara H., Orlow, Irene, Orsulic, Sandra, Weber, Rachel Palmieri, Pearce, Celeste L., Pejovic, Tanja, Pelttari, Liisa M., Permuth-Wey, Jennifer, Phelan, Catherine M., Pike, Malcolm C., Poole, Elizabeth M., Ramus, Susan J., Risch, Harvey A., Rosen, Barry, Rossing, Mary Anne, Rothstein, Joseph H., Rudolph, Anja, Runnebaum, Ingo B., Rzepecka, Iwona K., Salvesen, Helga B., Schildkraut, Joellen M., Schwaab, Ira, Sellers, Thomas A., Shu, Xiao-Ou, Shvetsov, Yurii B., Siddiqui, Nadeem, Sieh, Weiva, Song, Honglin, Southey, Melissa C., Sucheston, Lara, Tangen, Ingvild L., Teo, Soo-Hwang, Terry, Kathryn L., Thompson, Pamela J., Timorek, Agnieszka, Tsai, Ya-Yu, Tworoger, Shelley S., van Altena, Anne M., Van Nieuwenhuysen, Els, Vergote, Ignace, Vierkant, Robert A., Wang-Gohrke, Shan, Walsh, Christine, Wentzensen, Nicolas, Whittemore, Alice S., Wicklund, Kristine G., Wilkens, Lynne R., Woo, Yin-Ling, Wu, Xifeng, Wu, Anna H., Yang, Hannah, Zheng, Wei, Ziogas, Argyrios, Monteiro, Alvaro, Pharoah, Paul D., Gayther, Simon A., Freedman, Matthew L. |
| بيانات النشر: |
Nature Pub. Group |
| سنة النشر: |
2015 |
| المجموعة: |
Harvard University: DASH - Digital Access to Scholarship at Harvard |
| الوصف: |
Genome-wide association studies have reported 11 regions conferring risk of high-grade serous epithelial ovarian cancer (HGSOC). Expression quantitative trait locus (eQTL) analyses can identify candidate susceptibility genes at risk loci. Here we evaluate cis-eQTL associations at 47 regions associated with HGSOC risk (P≤10−5). For three cis-eQTL associations (P<1.4 × 10−3, FDR<0.05) at 1p36 (CDC42), 1p34 (CDCA8) and 2q31 (HOXD9), we evaluate the functional role of each candidate by perturbing expression of each gene in HGSOC precursor cells. Overexpression of HOXD9 increases anchorage-independent growth, shortens population-doubling time and reduces contact inhibition. Chromosome conformation capture identifies an interaction between rs2857532 and the HOXD9 promoter, suggesting this SNP is a leading causal variant. Transcriptomic profiling after HOXD9 overexpression reveals enrichment of HGSOC risk variants within HOXD9 target genes (P=6 × 10−10 for risk variants (P<10−4) within 10 kb of a HOXD9 target gene in ovarian cells), suggesting a broader role for this network in genetic susceptibility to HGSOC. ; Version of Record |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| تدمد: |
2041-1723 |
| العلاقة: |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4580986/pdfTest/; Nature Communications; Lawrenson, K., Q. Li, S. Kar, J. Seo, J. Tyrer, T. J. Spindler, J. Lee, et al. 2015. “Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer.” Nature Communications 6 (1): 8234. doi:10.1038/ncomms9234. http://dx.doi.org/10.1038/ncomms9234Test.; http://nrs.harvard.edu/urn-3:HUL.InstRepos:23474125Test |
| DOI: |
10.1038/ncomms9234 |
| الإتاحة: |
https://doi.org/10.1038/ncomms9234Test
http://nrs.harvard.edu/urn-3:HUL.InstRepos:23474125Test |
| رقم الانضمام: |
edsbas.18B96E2 |
| قاعدة البيانات: |
BASE |
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