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目的:探讨亚甲基四氢叶酸还原酶(MTHFR)基因多态性与中国北方人群脑膜瘤发病的相关性。方法:选择2012年1月-2013年12月在黑龙江省哈尔滨医科大学附属第二医院的第一、三病房接受手术治疗的脑膜瘤患者317例(实验组)及320例非脑膜瘤患者(对照组)为研究对象,利用聚合酶链反应限制性多态性片段长度(PCR-RFLP)检测和比较两组MTHFR两个单核苷酸多态性位点(C677T、A1298C)各种基因型(CC、CT、TT)的分布情况及等位基因的频率。结果:两组MTHFR的C677T中CC基因型的频率和TT基因型的频率比较有显著性差异(CC:OR=2.012,95%CI=1.460-2.772;TT:OR=0.399,95%CI=0.254-0.628,P<0.05),实验组MTHFR的(0.450)C677T中的T等位基因频率明显高于对照组(0.320)(OR=0.529,95%CI=0.420-0.666,P<0.05)。两组A1298C的等位基因分布比较没有统计学差别(P>0.05)。结论:MTHFR基因的C677T中TT等位基因提示潜在的易患脑膜瘤的风险,而CC等位基因会降低中国北方人群患脑膜瘤的风险。
Objective: To investigate the relationship between methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and the incidence of meningioma in North China. Methods: A total of 317 patients with meningioma (experimental group) and 320 patients with non-meningioma who underwent surgery in the first and third wards of the Second Affiliated Hospital of Harbin Medical University in Harbin from January 2012 to December 2013 were enrolled in this study. (PCR-RFLP) was used to detect and compare the genotypes of two polymorphic sites of MTHFR (C677T, A1298C) in the two groups CC, CT, TT) distribution and allele frequency. Results: The frequency of CC genotype in C677T of MTHFR was significantly different from that of TT genotype (CC: OR = 2.012, 95% CI = 1.460-2.772; TT: OR = 0.399, 95% CI = 0.254 -0.628, P <0.05). The frequency of T allele in (0.450) C677T of experimental group was significantly higher than that in control group (0.320) (OR = 0.529, 95% CI = 0.420-0.666, P <0.05). The allele distribution of A1298C in two groups showed no statistical difference (P> 0.05). CONCLUSIONS: The TT allele of C677T in the MTHFR gene suggests a potential risk of meningioma, whereas the CC allele decreases the risk of meningioma in the northern Chinese population.