title: Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid carcinoma.
abstract: Genetic factors associated with susceptibility to papillary thyroid carcinoma (PTC) are not well known. We evaluated the association between single nucleotide polymorphisms (SNPs) of ataxia telangiectasia mutated (ATM) and the risk of PTC. A total of 437 histologically confirmed PTC cases and 184 cancer-free controls without thyroid nodules were recruited. Genotypes with respect to five ATM SNPs (rs189037, rs664677, rs373759, rs664143, and rs4585) were determined by the TaqMan assay, and odds ratios and 95% confidence intervals were obtained by logistic regression analysis. Linkage disequilibria and haplotypes were examined from the genotype data. When evaluated separately the genotype distributions of the five ATM SNPs were similar in the PTC cases and controls. Three ATM SNPs (rs373759, rs664143, and rs4585) were found to be in strong linkage disequilibrium (D' = 1.00, P < 0.001). When the three haplotypes (C-A-G), (T-G-T), and (C-G-T) of these three ATM SNP sites were analyzed, ATM haplotype (C-G-T) +/- was associated with a lower risk of PTC than ATM haplotype (C-G-T) -/- (P = 0.03) after adjusting for age and gender. Our results suggest that genetic polymorphisms of ATM may play an important role in the development of thyroid cancer in the Korean population.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, College of Medicine, Hanyang University, Seoul, Korea.
authors.forename: Chang Myeon
authors.initials: CM
authors.lastname: Song
authors.forename: Tack-Kyun
authors.initials: TK
authors.lastname: Kwon
authors.forename: Byung Lae
authors.initials: BL
authors.lastname: Park
authors.forename: Yong Bae
authors.initials: YB
authors.lastname: Ji
authors.forename: Kyung
authors.initials: K
authors.lastname: Tae
mesh_terms: D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics*; D002291:Carcinoma, Papillary / Q000209:etiology*; D016022:Case-Control Studies; D005260:Female; D005500:Follow-Up Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D012307:Risk Factors; D013964:Thyroid Neoplasms / Q000209:etiology*
chemical_list: C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins
keywords: ataxia telangiectasia mutated; genetic polymorphism; papillary thyroid carcinoma; single nucleotide polymorphism