title: Confirmation of papillary thyroid cancer susceptibility loci identified by genome-wide association studies of chromosomes 14q13, 9q22, 2q35 and 8p12 in a Chinese population.
abstract: BACKGROUND
  Five single nucleotide polymorphisms (SNPs) were previously reported to be associated with thyroid cancer in European populations in two genome-wide association studies (GWAS): rs965513 (9q22.33), rs944289 (14q13.3), rs116909374 (14q13.3), rs966423 (2q35) and rs2439302 (8p12). Only the first two SNPs have been validated in independent populations and none were replicated in Chinese populations.
  
  
  METHODS
  The above five SNPs were genotyped in 845 papillary thyroid cancer (PTC) and 503 benign thyroid tumour (BN) patients and 1005 controls in a Chinese population using the SNaPshot multiplex single nucleotide extension system.
  
  
  RESULTS
  Significant associations were detected among PTC and rs944289 (p=8.007e-11), rs965513 (p=1.013e-4), rs966423 (p=1.688e-3) and rs2439302 (p=1.096e-4) in a dominant model, while the rs116909374 SNP was not detected in the Chinese population. The PTC risk increased with rise in accumulative numbers of risk alleles carried by individuals (p=5.929e-13). The PTC OR of carriers of six risk alleles (1.4% of the control population) was 23.587 compared with non-risk homozygotes (1.0% of the control population, with zero risk alleles). No individuals were homozygous for all the four SNPs (carriers of eight risk alleles) and only three PTC cases were carriers of seven risk alleles. A significant association between 14q13.3 SNP rs944289T and BN was also found (p=0.0014).
  
  
  CONCLUSIONS
  Four candidate loci, rs965513 (9q22.33), rs944289 (14q13.3), rs966423 (2q35) and rs2439302 (8p12), identified by GWAS for PTC risk were confirmed in a Chinese population. The PTC risk of accumulative risk allele carriers increased with the number of risk alleles.
authors.affiliation: Department of Head and Neck Surgery, Cancer Hospital, Fudan University, Shanghai, China.
authors.forename: Yu-Long
authors.initials: YL
authors.lastname: Wang
authors.forename: Shou-Hao
authors.initials: SH
authors.lastname: Feng
authors.forename: Shi-Cheng
authors.initials: SC
authors.lastname: Guo
authors.forename: Wen-Jun
authors.initials: WJ
authors.lastname: Wei
authors.forename: Duan-Shu
authors.initials: DS
authors.lastname: Li
authors.forename: Yu
authors.initials: Y
authors.lastname: Wang
authors.forename: Xiaofeng
authors.initials: X
authors.lastname: Wang
authors.forename: Zhuo-Ying
authors.initials: ZY
authors.lastname: Wang
authors.forename: Yan-Yun
authors.initials: YY
authors.lastname: Ma
authors.forename: Li
authors.initials: L
authors.lastname: Jin
authors.forename: Qing-Hai
authors.initials: QH
authors.lastname: Ji
authors.forename: Jiu-Cun
authors.initials: JC
authors.lastname: Wang
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002277:Carcinoma / Q000235:genetics*; D002291:Carcinoma, Papillary; D016022:Case-Control Studies; D002681:China; D002883:Chromosomes, Human, Pair 14; D002889:Chromosomes, Human, Pair 2; D002898:Chromosomes, Human, Pair 8; D002899:Chromosomes, Human, Pair 9; D019295:Computational Biology / Q000379:methods; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000235:genetics*
keywords: Cancer: endocrine; Genetic epidemiology; Thyroid disease