rs10054504 - PDZD2

Magnitude 2.8 · 1 study on file

Reported associations

  • Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer. - Human molecular genetics (2013) · Henrion M, Frampton M, Scelo G, Purdue M, Ye Y, Broderick P, Ritchie A, Kaplan R, Meade A, McKay J, Johansson M, Lathrop M, Larkin J, Rothman N, Wang Z, Chow WH, Stevens VL, Ryan Diver W, Gapstur SM, Albanes D, Virtamo J, Wu X, Brennan P, Chanock S, Eisen T, Houlston RS · PubMed 23184150

    Genome-wide association studies (GWASs) of renal cell cancer (RCC) have identified four susceptibility loci thus far. To identify an additional RCC common susceptibility locus, we conducted a GWAS and performed a meta-analysis with published GWASs (totalling 2215 cases and 8566 controls of European background) and followed up the most significant association signals [nine single nucleotide polymorphisms (SNPs) in eight genomic regions] in 3739 cases and 8786 controls. A combined analysis identified a novel susceptibility locus mapping to 2q22.3 marked by rs12105918 (P = 1.80 × 10(-8); odds ratio 1.29, 95% CI: 1.18-1.41). The signal localizes to intron 2 of the ZEB2 gene (zinc finger E box-binding homeobox 2). Our findings suggest that genetic variation in ZEB2 influences the risk of RCC.


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Screening

  • Renal cell carcinoma screening Moderate

    Variant associated with 37% increased renal cancer risk in GWAS (n=10,781, p=8e-7)

    Discuss personalized screening plan with physician