Hapmap-based evaluation of ERCC2, PPP1R13L, and ERCC1 and lung cancer risk in a Chinese population

Abstract

A genomic region on chromosome 19q13.3 has been associated with cancer susceptibility. A Chinese case-control study including 339 lung cancer cases and 358 controls was conducted using haplotype-tagging SNP (htSNP) approach and HapMap database to evaluate the role of this locus. Four htSNPs (rs6966, rs2070830, rs4802252, and rs4803817) representing 95% of the common variations in PPP1R13L, as well as fourteen htSNPs encompassing ERCC2, PPP1R13L, and ERCC1 on chromosome 19q13.3 were explored. Three haplotype blocks of strong linkage disequilibrium were identified. Overall, no single htSNP or haplotype associations were found for PPP1R13L. Highly significant differential distributions of haplotypes defined by both nine htSNPs covering ERCC2 and PPP1R13L and fourteen htSNPs covering ERCC2, PPP1R13L, and ERCC1 were found (global test P = 8.12e-005 and P = 4.82e-006, respectively). The results indicate that the biologically relevant genetic variation may be located at or near the subregion spanning from ERCC2 inton19 rs1799787 to PPP1R13L intron8 rs2070830.