LAPTM4B*2 allele is associated with the development of papillary thyroid carcinoma in Chinese women.
LAPTM4B*2 allele is associated with the development of papillary thyroid carcinoma in Chinese women.
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DOI：
10.3892/ol.2017.6503
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发表时间：
2017-09
期刊：
影响因子：
2.9
通讯作者：
Zhang Q
中科院分区：
文献类型：
--
作者：
Meng Y;Zhou R;Xu J;Zhang Q
溶酶体相关蛋白跨膜4-β(LAPTM4B)包含一个多态区域，导致多种类型肿瘤的风险增加。然而，目前还没有研究表明LAPTM4B基因的表达与肿瘤分化有关，LAPTM4B基因多态影响个体对癌症的易感性的原因还有待阐明。本研究评估了LAPTM4B多态与乳头状甲状腺癌(PTC)风险的可能关联，并试图确定该多态区域转录调控方面患者易感性变化的潜在机制。病例对照研究包括183例甲状腺乳头状癌患者(女性132例，男性51例)和697例健康对照(女性249例，男性448例)。从血液中提取基因组DNA，用聚合酶链式反应(PCR)对LAPTM4B进行基因分型。在女性中，LAPTM4B*2等位基因与PTC风险相关[优势比(OR)为1.968；95%可信区间(CI)，1.363~2.841，P<；0.001]，而在男性中，LAPTM4B*2与PTC风险无关(OR，0.996，95%CI，0.615~1.612，P=0.986)。值得注意的是，在女性患者组中，LAPTM4B基因多态与临床参数无关。此外，通过在PTC TPC1和B-CPAP细胞系中进行荧光素酶报告基因分析，与代表LAPTM4B*1的+10/+292质粒相比，代表LAPTM4B*2的+10/+311质粒的转录活性降低。结论：LAPTM4B*2是中国女性PTC的易感因素，这可能不是由TPC1和B-CPAP细胞系中LAPTM4B多态区域的转录调控引起的。
Lysosome-associated protein transmembrane 4-β (LAPTM4B) contains a polymorphic region that contributes to the increased risk of numerous types of tumor. However, no study has yet demonstrated an association between the expression of the LAPTM4B gene and tumor differentiation, and the reason that LAPTM4B polymorphisms affect the susceptibility of individuals to cancer remains to be elucidated. The present study assessed the possible association between LAPTM4B polymorphism and the risk of papillary thyroid carcinoma (PTC), and attempted to identify the underlying mechanism for variation in patient susceptibility with respect to transcription regulation in the polymorphism region. The case control study included 183 papillary thyroid carcinoma patients (132 females, 51 males) and 697 healthy controls (249 females, 448 males). Genomic DNA was extracted from the blood and the genotype of LAPTM4B was identified using polymerase chain reaction (PCR). The results of the PCR revealed that LAPTM4B allele *2 was associated with PTC risk in comparison with LAPTM4B allele *1 [odds ratio (OR), 1.968; 95% confidence interval (CI), 1.363–2.841, P<0.001] in females, while LAPTM4B*2 was not associated with PTC risk in males (OR, 0.996, 95% CI, 0.615–1.612, P=0.986). Notably, LAPTM4B polymorphism was not associated with clinical parameters in the female patient group. In addition, by performing a luciferase reporter assay in the PTC TPC1 and B-CPAP cell lines, the transcriptional activity of the +10/+311 plasmid, representing LAPTM4B*2 was reduced compared with that of the +10/+292 plasmid representing LAPTM4B*1. In conclusion, the results of the present study suggested that LAPTM4B*2 was a susceptibility factor for PTC in the female Chinese population and this may not be caused by the transcriptional regulation of LAPTM4B polymorphism region in TPC1 and B-CPAP cell lines.
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作者：
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通讯作者：
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