Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24.

The previous report of an association between rs2910164 and papillary TC risk found a highly significant association between rs2910164 heterozygosity and disease (p=7×10 −7 , OR=1.62, 95% CI 1.3 to 2.0); unusually, both homozygote genotypes were protective. 4 We tested this model in our data and failed to replicate an association between rs2910164 heterozygosity and TC risk (p=0.784; supplementary table 3).

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For rs6983267G, we also found a nominally significant association with TC risk (p=0.016, OR=1.14, 95% CI 1.02 to 1.27, equivalent false discovery rate=0.020).

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It showed a borderline significant association with TC in the Polish population. 6 rs1867277 was studied because it lies in the 5′ UTR of FOXE1 (or Thyroid Transcription Factor 2 ), a key gene involved in thyroid organogenesis. 7 rs1867277 and rs965513 are in moderate pairwise linkage disequilibrium (LD) in Europeans ( r 2 =0.39, D '=0.73, http://www.1000genomes.org/ ). rs1867277 was strongly associated with TC risk in Spanish and Italian cohorts. 5 None of the three candidate SNP associations has been replicated in independent studies.

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