Kula Dorota, Kalemba Michał, Puch Zbigniew, Polańska Joanna, Świerniak Michał, Rusinek Dagmara, Żebracka-Gala Jadwiga, Kowalska Małgorzata, Handkiewicz-Junak Daria, Kowal Monika, Tyszkiewicz Tomasz, Piasna Ewelina, Czarniecka Agnieszka, Pawlaczek Agnieszka, Krajewska Jolanta, Szpak-Ulczok Sylwia, Jarząb Barbara
Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Gliwice Branch, Poland, Poland.
Endokrynol Pol. 2017;68(3):283-289. doi: 10.5603/EP.2017.0021.
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 interac-tion between SNPs and patient-related factors (age at diagnosis and gender).
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.
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).
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.
甲状腺乳头状癌（PTC）具有家族聚集性，并且已在FOXE1和NKX2 - 1基因座附近鉴定出一些易感性单核苷酸多态性（SNP）。我们研究的目的是分析在波兰人群中，PTC风险与FOXE1（rs965513、rs1867277、rs1443434）以及NKX2 - 1基因座附近（rs944289）的SNP之间的关联，第二步是分析SNP与患者相关因素（诊断时年龄和性别）之间的相互作用。
本研究共纳入2243例PTC患者和1160例对照的DNA样本。采用等位基因鉴别技术进行SNP分析。
所有SNP与PTC均存在显著关联（rs965513比值比[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）。逻辑回归分析显示，rs944289与诊断时年龄的相互作用使PTC风险增加（每年OR = 1.01，p = 6×10 - 4），男性性别与FOXE1保护单倍型的相互作用使PTC风险降低（OR = 0.69，p = 0.01）。
证实了PTC与所有分析的SNP之间的关联。还表明，患者相关因素通过增加rs944289每年的风险以及增强FOXE1 GGT单倍型对男性的保护作用来改变PTC的易感性。
