Oh In-Hwan, Oh Changmo, Yoon Tai-Young, Choi Joong-Myung, Kim Su Kang, Park Hae Jeong, Eun Young Gyu, Chung Dae Han, Kwon Kee Hwan, Choe Bong-Keun
Department of Preventive Medicine, School of Medicine, Kyung Hee University, Seoul 130-701.
Oncol Lett. 2012 Feb;3(2):455-461. doi: 10.3892/ol.2011.479. Epub 2011 Nov 15.
The incidence of thyroid cancer has been on the increase in a number of countries, and certain genetic factors associated with the increased incidence of the papillary thyroid cancer (PTC) have been identified. However, little is known about the effect of mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, expressed in the thyroid. We hypothesized and investigated that CFTR single nucleotide polymorphisms (SNPs) may be associated with the risk and/or progression of PTC. A total of 105 PTC patients, confirmed by pathological tests, and 323 controls, without any thyroidal disease, were recruited. One promoter SNP (rs4148682) and one coding SNP (rs213950, Val470Met) in the CFTR gene were analyzed, using direct sequencing. The PTC patients were sub-grouped and compared by their clinical and pathological characteristics of PTC. The results showed that the association between SNPs in the CFTR gene and the development of PTC was statistically insignificant. However, in the clinical and pathological features, rs4148682 was found to be correlated with multifocal tumors, location and cervical node metastasis of PTC. rs231950 was also correlated with multifocal tumors, location and nodal metastasis of PTC. The G allele of rs213950 was correlated with increased risk of multifocal tumors and bilateral lobe location. However, in cervical lymph node metastasis, the A allele of rs213950 was found to reflect high risk. Our study suggests that the CFTR gene polymorphisms studied may not be associated with the development of PTC, but that rs4148682 and rs213950 may be associated with clinical features and prognosis, such as multifocality, location of cancer and cervical lymph node metastasis of PTC.
甲状腺癌的发病率在许多国家呈上升趋势，并且已经确定了一些与甲状腺乳头状癌（PTC）发病率增加相关的遗传因素。然而，关于在甲状腺中表达的囊性纤维化跨膜传导调节因子（CFTR）基因突变的影响知之甚少。我们假设并研究了CFTR单核苷酸多态性（SNP）可能与PTC的风险和/或进展相关。共招募了105例经病理检查确诊的PTC患者和323例无任何甲状腺疾病的对照者。采用直接测序法分析了CFTR基因中的一个启动子SNP（rs4148682）和一个编码SNP（rs213950，Val470Met）。根据PTC的临床和病理特征对PTC患者进行亚组划分并比较。结果表明，CFTR基因中的SNP与PTC发生之间的关联在统计学上无显著意义。然而，在临床和病理特征方面，发现rs4148682与PTC的多灶性肿瘤、位置及颈部淋巴结转移相关。rs231950也与PTC的多灶性肿瘤、位置及淋巴结转移相关。rs213950的G等位基因与多灶性肿瘤风险增加及双侧叶位置相关。然而，在颈部淋巴结转移方面，发现rs213950的A等位基因反映高风险。我们的研究表明，所研究的CFTR基因多态性可能与PTC的发生无关，但rs4148682和rs213950可能与PTC的临床特征和预后相关，如多灶性、癌症位置及颈部淋巴结转移。
