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Investigation of SNPs and Haplotypes in genes in the VHL-HIF pathway in Renal Cell Cancer in Cohort Studies

Principal Investigator
Name
Jorge Toro
Degrees
-
Institution
NCI, DCEG, GEB
Position Title
-
Email
About this CDAS Project
Study
PLCO (Learn more about this study)
Project ID
2007-0214
Initial CDAS Request Approval
Dec 20, 2007
Title
Investigation of SNPs and Haplotypes in genes in the VHL-HIF pathway in Renal Cell Cancer in Cohort Studies
Summary
Backgroud: The von Hippel Lindau-Hypoxia Inducible Factor (VHL-HIF) pathway plays a critical role in the development of kidney cancer. Recently, we investigated the role of common variants in genes in the VHL-HIF pathway in Central and Eastern Europe Renal Cell Cancer (RCC) Case-Control Study and we identified common genetic variants and haplotypes in genes in the VHL-HIF pathway that confer risk for RCC. Objective: The objective of the study is to investigate whether SNPs and/or haplotype variations in genes of the VHL-HIF pathway are associated with the susceptibility to kidney cancer in in large population-based cohort studies including PLCO and ATBC, and to validate our findings from the Central and Eastern European RCC Case-Control Study.Samples: Risk factors including BMI, hypertension, family history of cancer. To investigate that genotyping results are not confounded by risk factors. We will genotype a total of 473 total renal cancer cases (223 ATBC + 250 PLCO) and 1453 total control subject (453 ATBC and 1000 PLCO) samples. Methods: We surveyed single nucleotide polymorphisms (SNPs) across the genomic regions of 4 genes [VHL (3p25), HIF1A (14q23), HIF2A (2p21)] and VEGF (6p21)
Aims

Our aims are to investigate whether SNPs and/or haplotype variations in genes of the VHL-HIF pathway are associated with the susceptibility to kidney cancer and validate our findings from the Central and Eastern European RCC Case-Control Study in large population-based cohort studies including PLCO and ATBC. Specifically in PLCO, we will conduct a validation scan on 250 kidney cancer cases and 1000 controls. The PLCO and ATBC cohorts provide the opportunity to conduct parallel validation studies.

Collaborators

Stephen Chanock (NCI, DCEG)
Robert Hoover (None specified)
Lee Moore (NCI, DCEG)
Phillip Taylor (NCI, DCEG)
Jorge Toro (NCI, DCEG)

Related Publications
  • The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma.
    Han SS, Yeager M, Moore LE, Wei MH, Pfeiffer R, Toure O, Purdue MP, Johansson M, Scelo G, Chung CC, Gaborieau V, Zaridze D, Schwartz K, Szeszenia-Dabrowska N, Davis F, Bencko V, Colt JS, Janout V, Matveev V, Foretova L, ...show more Mates D, Navratilova M, Boffetta P, Berg CD, Grubb RL, Stevens VL, Thun MJ, Diver WR, Gapstur SM, Albanes D, Weinstein SJ, Virtamo J, Burdett L, Brisuda A, McKay JD, Fraumeni JF, Chatterjee N, Rosenberg PS, Rothman N, Brennan P, Chow WH, Tucker MA, Chanock SJ, Toro JR
    Human molecular genetics. 2012 Mar 1; Volume 21 (Issue 5): Pages 1190-200 PUBMED