title: Multiple variants of TERT and CLPTM1L constitute risk  factors for lung adenocarcinoma.
abstract: Recent studies have shown that 5p15.33 is one of the  chromosomal regions that is most consistently altered in lung cancer; common  variants that are located in this region have been genotyped in various  populations. However, the genetic contribution of these variants to  carcinogenesis is relatively unknown. A clinic-based case-control study in  Shanghai was undertaken on 196 patients with lung cancer and 229 healthy  individuals. TERT rs2736100 and CLPTM1L rs401681 and rs402710  were genotyped using the ABI TaqMan Allelic Discrimination assay. For  rs2736100, the G variant and the GG genotype were more frequent, whereas the TT  genotype was less frequent in patients with lung adenocarcinoma than in  controls. The CT genotype at rs401681 was more common and the TT genotype was  rare in patients, and the differences were significant between lung  adenocarcinoma patients and controls. This was also true for rs402710.  Moreover, the frequency of the GGCTCT haplotype was higher and the TTTTTT  frequency was lower in patients, especially those with lung adenocarcinoma.  Aberrant linkage disequilibrium among the three SNPs was found in patients with  lung adenocarcinoma. We conclude that multiple variants at 5p15.33 contribute  to susceptibility to lung adenocarcinoma.
authors.affiliation: Department of Thoracic Surgery, Shanghai Pulmonary Hospital, Tongji University, Shanghai, China.
authors.forename: X F
authors.initials: XF
authors.lastname: Chen
authors.forename: S
authors.initials: S
authors.lastname: Cai
authors.forename: Q G
authors.initials: QG
authors.lastname: Chen
authors.forename: Z H
authors.initials: ZH
authors.lastname: Ni
authors.forename: J H
authors.initials: JH
authors.lastname: Tang
authors.forename: D W
authors.initials: DW
authors.lastname: Xu
authors.forename: X B
authors.initials: XB
authors.lastname: Wang
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology; D000077192:Adenocarcinoma of Lung; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D019098:Telomerase / Q000235:genetics*
chemical_list: C422445:CLPTM1L protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins; C509186:TERT protein, human; D019098:Telomerase