title: 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.
authors.affiliation: Key Laboratory of Environment and Population Health of Liaoning Education Ministry (Shenyang Medical College), Shenyang, Liaoning Province, People's Republic of China. yinjyf@yahoo.com.cn
authors.forename: Jiaoyang
authors.initials: J
authors.lastname: Yin
authors.forename: Ulla
authors.initials: U
authors.lastname: Vogel
authors.forename: Chunhong
authors.initials: C
authors.lastname: Wang
authors.forename: Duohong
authors.initials: D
authors.lastname: Liang
authors.forename: Yegang
authors.initials: Y
authors.lastname: Ma
authors.forename: Huiwen
authors.initials: H
authors.lastname: Wang
authors.forename: Li
authors.initials: L
authors.lastname: Yue
authors.forename: Donghui
authors.initials: D
authors.lastname: Liu
authors.forename: Jian
authors.initials: J
authors.lastname: Ma
authors.forename: Xiaoling
authors.initials: X
authors.lastname: Sun
mesh_terms: D000230:Adenocarcinoma / Q000453:epidemiology / Q000235:genetics*; D000077192:Adenocarcinoma of Lung; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D004720:Endonucleases / Q000235:genetics*; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D060148:HapMap Project; D006239:Haplotypes; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007438:Introns; D015810:Linkage Disequilibrium; D008175:Lung Neoplasms / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012097:Repressor Proteins / Q000235:genetics*; D012306:Risk; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; C119612:PPP1R13L protein, human; D012097:Repressor Proteins; C071447:ERCC1 protein, human; D004720:Endonucleases; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human