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Discovering the causes of cancer and the means of prevention

TO BE DELETED Renal Cancer Genome-wide Association Studies (GWAS)

DCEG has coordinated multiple genome-wide association studies (GWAS) of renal cell cancer.  Each of these efforts is described below.

Renal Cell Carcinoma GWAS

The NCI genome-wide association study (GWAS) of renal cell carcinoma (RCC) was conducted to investigate common genetic variants associated with RCC risk. The GWAS includes 1,453 cases and 3,531 controls of European background from four studies (three cohort, one case-control).

Data were pooled with those from another GWAS of RCC (2,639 cases and 5,392 controls) conducted in Europe by the International Agency for Research on Cancer and the Centre National de Gènotypage. Findings from this collaboration are described in the publication below.


Purdue et al. Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Purdue et al. Nature Genetics 2011;43:60-65.

Obtain additional information or apply for data access to the Renal Cancer Genome-Wide Association Study on the dbGaP website. Note: Only data from the NCI scan are included in this dbGaP submission.

Renal Cell Carcinoma Among African Americans

The NCI GWAS of renal cell carcinoma (RCC) in African Americans was undertaken to provide insight into genetic loci affecting susceptibility to this malignancy in a racial group known to be at elevated risk. We genotyped 1,136,723 single-nucleotide polymorphisms (SNPs) among 255 cases and 375 controls of African ancestry from the NCI Kidney Cancer Study, and further investigated 16 SNPs in a replication set consisting of 140 cases and 543 controls from a case-control study conducted at the University of Texas MD Anderson Cancer Center. The variant rs10771279 located on 12p11, 77kb from a European-ancestry RCC risk marker, was associated with risk but did not replicate. The variant 7105934 on 11q13.3, previously associated with RCC in a GWAS using European-ancestry samples, was associated with risk in both studies [meta-analysis odds ratio (OR)=0.76, 95% confidence interval (CI)=0.64-0.91; P=0.0022]. The frequency of this allele was higher than that observed in the European-ancestry GWAS (0.56 and 0.07 respectively among controls). The rs7105934 association was stronger for clear cell RCC (ccRCC: OR=0.56; P=7.4 x 10-7) and absent for cases of other or unknown histology (OR=1.02; P=0.86). In conclusion, this study provides evidence that rs7105934 is a susceptibility locus for RCC, and clear-cell RCC in particular, among African Americans.


Purdue MP et al. A genome-wide association study of renal cell carcinoma among African Americans. Cancer Epidemiol Biomarkers Prev 2014 Jan; 23:209-214.

Colt JS et al. Hypertension and risk of renal cell carcinoma among white and black Americans. Epidemiology 2011 Nov; 22:797-804.

Obtain additional information or apply for data access to the Renal Cell Carcinoma among African Americans GWAS on the dbGaP website.

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