Journal article

Sex specific associations in genome wide association analysis of renal cell carcinoma

Ruhina S Laskar, David C Muller, Peng Li, Mitchell J Machiela, Yuanqing Ye, Valerie Gaborieau, Matthieu Foll, Jonathan N Hofmann, Leandro Colli, Joshua N Sampson, Zhaoming Wang, Delphine Bacq-Daian, Anne Boland, Behnoush Abedi-Ardekani, Geoffroy Durand, Florence Le Calvez-Kelm, Nivonirina Robinot, Helene Blanche, Egor Prokhortchouk, Konstantin G Skryabin Show all

European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2019


Renal cell carcinoma (RCC) has an undisputed genetic component and a stable 2:1 male to female sex ratio in its incidence across populations, suggesting possible sexual dimorphism in its genetic susceptibility. We conducted the first sex-specific genome-wide association analysis of RCC for men (3227 cases, 4916 controls) and women (1992 cases, 3095 controls) of European ancestry from two RCC genome-wide scans and replicated the top findings using an additional series of men (2261 cases, 5852 controls) and women (1399 cases, 1575 controls) from two independent cohorts of European origin. Our study confirmed sex-specific associations for two known RCC risk loci at 14q24.2 (DPF3) and 2p21(EPAS1..

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Awarded by US National Institutes of Health (NIH), National Cancer Institute

Awarded by NIH

Awarded by MH CZ - DRO (MMCI)

Funding Acknowledgements

We thank all of the participants who took part in this research and the funders and support staff who made this study possible. Funding for the genome-wide genotyping was provided by the US National Institutes of Health (NIH), National Cancer Institute (U01CA155309) for those studies coordinated by IARC, and by the intramural research program of the National Cancer Institute, US NIH, for those studies coordinated by the NCI. MD Anderson GWAS was supported by NIH (grant R01 CA170298) and the Center for Translational and Public Health Genomics, Duncan Family Institute for Cancer Prevention and Risk Assessment, The University of Texas MD Anderson Cancer Center. Funding for the IARC gene expression and eQTL study was provided by the US National Institutes of Health (NIH), National Cancer Institute (U01CA155309). RSL received IARC Postdoctoral fellowship from the IARC, partially supported by EC FP7 Marie Curie Actions - People - Co-Funding of regional, national and international programmes (COFUND). DCM is supported by a Cancer Research UK Population Research Fellowship. MMCIsupported by MH CZ - DRO (MMCI, 00209805).