Journal article

Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript

Z Kote-Jarai, A Amin Al Olama, D Leongamornlert, M Tymrakiewicz, E Saunders, M Guy, GG Giles, G Severi, M Southey, JL Hopper, KC Sit, JM Harris, J Batra, AB Spurdle, JA Clements, F Hamdy, D Neal, J Donovan, K Muir, PDP Pharoah Show all

Human Genetics | SPRINGER | Published : 2011

Abstract

Genome-wide association studies (GWAS) have identified more than 30 prostate cancer (PrCa) susceptibility loci. One of these (rs2735839) is located close to a plausible candidate susceptibility gene, KLK3, which encodes prostate-specific antigen (PSA). PSA is widely used as a biomarker for PrCa detection and disease monitoring. To refine the association between PrCa and variants in this region, we used genotyping data from a two-stage GWAS using samples from the UK and Australia, and the Cancer Genetic Markers of Susceptibility (CGEMS) study. Genotypes were imputed for 197 and 312 single nucleotide polymorphisms (SNPs) from HapMap2 and the 1000 Genome Project, respectively. The most signific..

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