Vol 68, No 3 (2017)
Original paper
Published online: 2017-06-21

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Age at diagnosis and gender modify the risk of 9q22 and 14q13 polymorphisms for papillary thyroid carcinoma

Dorota Kula1, Michał Kalemba1, Zbigniew Puch1, Joanna Polańska2, Michał Świerniak34, Dagmara Rusinek1, Jadwiga Żebracka-Gala1, Małgorzata Kowalska1, Daria Handkiewicz-Junak1, Monika Kowal1, Tomasz Tyszkiewicz1, Ewelina Piasna1, Agnieszka Czarniecka5, Agnieszka Pawlaczek1, Jolanta Krajewska1, Sylwia Szpak-Ulczok1, Barbara Jarząb1
Pubmed: 28660995
Endokrynol Pol 2017;68(3):283-289.


Introduction: Papillary thyroid cancer (PTC) shows familial occurrence, and some susceptibility single nucleotide polymorphisms (SNPs) have been identified in FOXE1 and near the NKX2-1 locus. The aim of our study was to analyse the association of PTC risk with SNPs in FOXE1 (rs965513, rs1867277, rs1443434) and near the NKX2-1 locus (rs944289) in a Polish population, and, in the second step, the interac­tion between SNPs and patient-related factors (age at diagnosis and gender).

Material and methods: A total of 2243 DNA samples from PTC patients and 1160 controls were included in the study. The SNP analysis was performed with the allelic discrimination technique.

Results: There were significant associations of all SNPs with PTC (rs965513 odds ratio [OR] = 1.72, p = 8 × 10-7; rs1867277 OR = 1.59, p = 1 × 10-6; rs1443434 OR = 1.53, p = 1 × 10-5; rs944289 OR = 1.52, p = 4 × 10-5). Logistic regression analysis revealed an increased PTC risk in the interaction of rs944289 with age at diagnosis (OR = 1.01 per year, p = 6 × 10-4) and a decreased PTC risk in the interaction of male gender with the GGT FOXE1 protective haplotype (OR = 0.69, p = 0.01).

Conclusions: the association between PTC and all analysed SNPs was confirmed. It was also shown that patient-related factors modify the predisposition to PTC by increasing the risk for rs944289 per year of age, and by enhancing the protective effect of the FOXE1 GGT haplotype in men.


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