Sex specific associations in genome wide association analysis of renal cell carcinoma
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209805%3A_____%2F19%3A00078209" target="_blank" >RIV/00209805:_____/19:00078209 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/19:10398454 RIV/00216208:11130/19:10398454 RIV/61989592:15120/19:73595576
Result on the web
<a href="https://www.nature.com/articles/s41431-019-0455-9" target="_blank" >https://www.nature.com/articles/s41431-019-0455-9</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41431-019-0455-9" target="_blank" >10.1038/s41431-019-0455-9</a>
Alternative languages
Result language
angličtina
Original language name
Sex specific associations in genome wide association analysis of renal cell carcinoma
Original language description
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). We also identified two additional suggestive male-specific loci at 6q24.3 (SAMD5, male odds ratio (ORmale) = 0.83 [95% CI = 0.78-0.89], Pmale = 1.71 x 10-8 compared with female odds ratio (ORfemale) = 0.98 [95% CI = 0.90-1.07], Pfemale = 0.68) and 12q23.3 (intergenic, ORmale = 0.75 [95% CI = 0.68-0.83], Pmale = 1.59 x 10-8 compared with ORfemale = 0.93 [95% CI = 0.82-1.06], Pfemale = 0.21) that attained genome-wide significance in the joint meta-analysis. Herein, we provide evidence of sex-specific associations in RCC genetic susceptibility and advocate the necessity of larger genetic and genomic studies to unravel the endogenous causes of sex bias in sexually dimorphic traits and diseases like RCC.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30204 - Oncology
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
European journal of human genetics
ISSN
1018-4813
e-ISSN
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Volume of the periodical
27
Issue of the periodical within the volume
10
Country of publishing house
AT - AUSTRIA
Number of pages
10
Pages from-to
1589-1598
UT code for WoS article
000485781600013
EID of the result in the Scopus database
2-s2.0-85068111474