Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209805%3A_____%2F24%3A00079770" target="_blank" >RIV/00209805:_____/24:00079770 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/24:10479734 RIV/00216208:11130/24:10479734 RIV/00064203:_____/24:10479734

Result on the web

<a href="https://www.nature.com/articles/s41588-024-01725-7" target="_blank" >https://www.nature.com/articles/s41588-024-01725-7</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/s41588-024-01725-7" target="_blank" >10.1038/s41588-024-01725-7</a>

Result language

angličtina

Original language name

Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions

Original language description

Here, in a multi-ancestry genome-wide association study meta-analysis of kidney cancer (29,020 cases and 835,670 controls), we identified 63 susceptibility regions (50 novel) containing 108 independent risk loci. In analyses stratified by subtype, 52 regions (78 loci) were associated with clear cell renal cell carcinoma (RCC) and 6 regions (7 loci) with papillary RCC. Notably, we report a variant common in African ancestry individuals ( rs7629500 ) in the 3&apos; untranslated region of VHL, nearly tripling clear cell RCC risk (odds ratio 2.72, 95% confidence interval 2.23-3.30). In cis-expression quantitative trait locus analyses, 48 variants from 34 regions point toward 83 candidate genes. Enrichment of hypoxia-inducible factor-binding sites underscores the importance of hypoxia-related mechanisms in kidney cancer. Our results advance understanding of the genetic architecture of kidney cancer, provide clues for functional investigation and enable generation of a validated polygenic risk score with an estimated area under the curve of 0.65 (0.74 including risk factors) among European ancestry individuals.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30204 - Oncology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2024

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Nature genetics

ISSN

1061-4036

e-ISSN

1546-1718

Volume of the periodical

56

Issue of the periodical within the volume

5

Country of publishing house

US - UNITED STATES

Number of pages

10

Pages from-to

809-818

UT code for WoS article

001253202700001

EID of the result in the Scopus database

2-s2.0-85191307064