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首页> 美国卫生研究院文献>Tumour Biology >Metallothionein 2A core promoter region genetic polymorphism and its impact on the risk tumor behavior and recurrences of sinonasal inverted papilloma (Schneiderian papilloma)
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Metallothionein 2A core promoter region genetic polymorphism and its impact on the risk tumor behavior and recurrences of sinonasal inverted papilloma (Schneiderian papilloma)

机译：金属硫蛋白2A核心启动子区域遗传多态性及其对鼻窦倒置性乳头状瘤（Schneiderian乳头状瘤）的风险肿瘤行为和复发的影响

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Inverted papillomas are a unique group of locally aggressive benign epithelial neoplasms in the nasal cavity and paranasal sinuses arising from the Schneiderian mucosa. Metallothioneins are sulfhydryl-rich heavy metal-binding proteins required for metal toxicity protection and regulation of biological mechanisms including proliferation and invasion. The goal of this study was to identify three SNPs at loci −5 A/G (rs28366003) and −209 A/G (rs1610216) in the core promoter region and at locus +838 C/G (rs10636) in 3′UTR region of the MT2A gene with IP risk and with tumor invasiveness according to Krouse staging. Genotyping was performed using the PCR restriction fragment length polymorphism technique in 130 genetically unrelated IP individuals, and 418 randomly selected healthy volunteers. The presence of the rs28366003 SNP was significantly related to the risk of IP within the present population-based case-control study. Compared to homozygous common allele carriers, heterozygosity and homozygosity for the G variant had a significantly increased risk of IP (adjusted odds ratio [OR] = 7.71, 95 % confidence interval [CI]: 4.01–14.91, p dominant < 0.001). Moreover, risk allele carriers demonstrated higher Krouse stage (pT1 vs. pT2-4) (OR = 19.32; 95 % CI, 2.30–173.53; p < 0.0001), diffuse tumor growth (OR = 4.58; 95 % CI, 1.70–12.11; p = 0.0008), bone destruction (OR = 4.13; 95 % CI, 1.50–11.60; p = 0.003), and higher incidence of tumor recurrences (OR = 5.11; 95 % CI, 1.68–15.20; p = 0.001). The findings suggest that MT2A gene variation rs28366003 may be implicated in the etiology of sinonasal inverted papilloma in a Polish population.
机译：倒置的乳头状瘤是由Schneiderian粘膜引起的鼻腔和鼻旁窦中局部侵袭性良性上皮性肿瘤的独特组。金属硫蛋白是富含巯基的重金属结合蛋白，是金属毒性保护和调节包括增殖和侵袭在内的生物学机制所必需的。这项研究的目的是在核心启动子区域以及在3'UTR区域+838 C / G（rs10636）的基因座-5 A / G（rs28366003）和-209 A / G（rs1610216）处鉴定三个SNP。根据Krouse分期对具有IP风险和肿瘤侵袭性的MT2A基因进行分析。使用PCR限制性片段长度多态性技术对130个遗传无关的IP个体和418个随机选择的健康志愿者进行了基因分型。在目前的基于人群的病例对照研究中，rs28366003 SNP的存在与IP风险显着相关。与纯合的普通等位基因携带者相比，G变体的杂合性和纯合性具有显着增加的IP风险（校正后的优势比[OR] = 7.71，95％置信区间[CI]：4.01-14.91，p显性<0.001）。此外，风险等位基因携带者表现出更高的Krouse分期（pT1 vs.pT2-4）（OR = 19.32; 95％CI，2.30–173.53; p <0.0001），弥漫性肿瘤生长（OR = 4.58; 95％CI，1.70-12.11 ; p = 0.0008），骨破坏（OR = 4.13; 95％CI，1.50-11.60; p = 0.003），肿瘤复发率更高（OR = 5.11; 95％CI，1.68–15.20; p = 0.001）。这些发现表明，MT2A基因变异rs28366003可能与波兰人群鼻窦倒置性乳头状瘤的病因有关。

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