伊朗东南部口腔鳞状细胞癌中甲基四氢叶酸还原酶C677T和A1298C基因多态性
Methylenetetrahydrofolate reductase C677T and A1298C gene polymorphisms in oral squamous cell carcinoma in south-east Iran.
作者信息
Miri-Moghaddam Ebrahim, Saravani Shirin, Garme Yasamn, Khosravi Arezoo, Bazi Ali, Motazedian Jamaledin
机构信息
Genetics of Non-Communicable Disease Research Centre, Zahedan University of Medical Sciences, Zahedan, Iran.
Department of Genetics, Zahedan University of Medical Sciences, Zahedan, Iran.
出版信息
J Oral Pathol Med. 2016 Feb;45(2):96-100. doi: 10.1111/jop.12343. Epub 2015 Jul 27.
BACKGROUND
Methylenetetrahydrofolate reductase (MTHFR) gene encodes an essential enzyme involving in folate metabolism. Due to the role of folate in DNA integrity, polymorphisms of MTHFR are interesting targets for cancer risk studies. Our goal was to evaluate the prevalence of MTHFR C677T and A1298T single nucleotide polymorphisms in oral squamous cell carcinoma (OSCC).
METHODS
The study was conducted on 57 OSCC patients diagnosed within 2004-2013 along with 62 non-OSCC subjects. DNA was extracted by standard kit protocol. Subsequently, tetra-ARMS (amplification refractory mutation system)-PCR was applied to identify the selected polymorphisms.
RESULTS
Data showed that CT and TT genotypes of C677T polymorphisms significantly increased the risk of OSCC [odds ratio (OR) = 2.2, 95% CI: 1-5, P = 0.04]. Although allelic distribution was not significantly different between patients and controls, T allele of C677T polymorphism was closely associated with the risk of OSCC (OR = 2.5; 95% CI: 0.9-6.9; P = 0.07). Results indicated that C677T/A1298C: CC/AC and C677T/A1298C: CC/AA haplotypes were the most common combinations in OSCC patient and control groups, respectively. (OR = 1.5, 95% CI: 0.6-3.8, P > 0.05).
CONCLUSION
Our results highlight the possible impact of C677T polymorphism in increasing the risk of OSCC development.
背景
亚甲基四氢叶酸还原酶（MTHFR）基因编码一种参与叶酸代谢的关键酶。由于叶酸在DNA完整性中的作用，MTHFR基因多态性成为癌症风险研究的有趣靶点。我们的目标是评估口腔鳞状细胞癌（OSCC）中亚甲基四氢叶酸还原酶C677T和A1298T单核苷酸多态性的发生率。
方法
本研究对2004年至2013年期间诊断的57例OSCC患者和62例非OSCC受试者进行。采用标准试剂盒方法提取DNA。随后，应用四引物扩增阻滞突变系统（tetra-ARMS）-PCR鉴定所选多态性。
结果
数据显示，C677T多态性的CT和TT基因型显著增加了OSCC的发病风险[比值比（OR）=2.2，95%可信区间：1-5，P=0.04]。虽然患者和对照组之间的等位基因分布没有显著差异，但C677T多态性的T等位基因与OSCC风险密切相关（OR=2.5；95%可信区间：0.9-6.9；P=0.07）。结果表明，C677T/A1298C:CC/AC和C677T/A1298C:CC/AA单倍型分别是OSCC患者组和对照组中最常见的组合。（OR=1.5，95%可信区间：0.6-3.8，P>0.05）。
结论
我们的结果突出了C677T多态性在增加OSCC发生风险方面的可能影响。
Zotero 插件