Background The 5,10-methylenetetrahydrofolate reductase （MTHFR） and methionine synthase （MS） are attractive candidates for screening for risk of neural tube defects （NTDs）. The aim of the current study was to in...Background The 5,10-methylenetetrahydrofolate reductase （MTHFR） and methionine synthase （MS） are attractive candidates for screening for risk of neural tube defects （NTDs）. The aim of the current study was to investigate maternal MTHFR and MS polymorphisms and the interaction between them and their influence on children with NTDs in the Shanxi Province of northern China. Methods Fifty-one mothers who previously had children with NTDs constituted the case group and 51 age-matched mothers with children that were unaffected by any birth defects constituted the control group. All subjects were genotyped for MTHFR C677T and MS A2756G polymorphisms. SPSS 11.5 software package was used for all analyses. Results There was a significant difference for MTHFR genotype distribution for one site （C677T） between the case and control groups. The T allele frequencies were significantly higher in the case group than in the control group （55.9% vs. 35.3%, P 〈0.05）. A lack of association was observed for the MS A2756G polymorphism. There was an interaction between the maternal MTHFR C677T genotype and MS A2756G genotype. Conclusion Genetic interaction between MTHFR and MS genes raises the probability of neural tube defects.展开更多
目的:探讨同型半胱氨酸代谢酶蛋氨酸合成酶还原酶基因(MTRR)A66G及半胱氨酸蛋白酶抑制剂C(cystatin C)基因G73A多态性与缺血性脑血管病(ICVD)的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术检测187例ICVD患者和...目的:探讨同型半胱氨酸代谢酶蛋氨酸合成酶还原酶基因(MTRR)A66G及半胱氨酸蛋白酶抑制剂C(cystatin C)基因G73A多态性与缺血性脑血管病(ICVD)的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术检测187例ICVD患者和122例正常对照者MTRRA66G和cystatin C G73A基因多态性。结果:MTRRA66G3种基因型及等位基因频率在病例组和对照组中的分布差异均有统计学意义(χ2=7.008,P=0.030;χ2=6.045,P=0.014),其中GG型在病例组的分布频率35.3%高于对照组的23.0%(χ2=5.314,P=0.021);cystatinC3种基因型及等位基因频率在病例组和对照组中的分布差异均无统计学意义(χ2=2.859,P=0.239;χ2=2.886,P=0.089)。结论:MTRRA66G基因多态性可能与ICVD相关;GG基因型可能是ICVD的易感基因型;cystatin C G73A基因多态性与ICVD发病无关。展开更多
目的：有流行病学研究显示蛋氨酸合成酶（MTRR）rs1801394和蛋氨酸还原酶（MTR）rs1805087基因多态性可能与成年人脑膜瘤患病有关。然而,不同的病例-对照研究结果却不尽相同。因此,本文采用Meta分析的方法进一步研究。方法：检索PubMed...目的：有流行病学研究显示蛋氨酸合成酶（MTRR）rs1801394和蛋氨酸还原酶（MTR）rs1805087基因多态性可能与成年人脑膜瘤患病有关。然而,不同的病例-对照研究结果却不尽相同。因此,本文采用Meta分析的方法进一步研究。方法：检索PubMed、Web of Knowledge、中国知网和万方数据库,检索时限为从建库至2013年10月30日。对合格研究进行资料提取后,采用Stata 12.0软件进行Meta分析。结果：最后纳入3篇文献,包含7项病例-对照研究。基于固定效应模型的合并结果显示MTRR rs1801394多态性与成年人脑膜瘤患病率的升高有关[GG vs AA：OR=1.41,95%CI=1.12~1.77;AG vs AA：OR=1.08,95%CI=0.94~1.33;（AG＋GG）vs AA：OR=1.19,95%CI=1.01~1.40;GG vs（AG＋AA）：OR=1.32,95%CI=1.07~1.63]。MTR rs1805087多态性与成年人脑膜瘤患病没有相关性[GG vs AA：OR=1.09,95%CI=0.80~1.48;AG vs AA：OR=0.95,95%CI=0.82~1.11;（AG＋GG）vs AA∶OR=0.97,95%CI=0.84~1.13;GG vs（AG＋AA）：OR=1.09,95%CI=0.80~1.48]。结论：当前的证据显示MTRR rs1801394多态性与成年人脑膜瘤患病率的升高有关,而MTR rs1805087多态性与成年人脑膜瘤患病无关。展开更多
基金This research was supported by the grants from the National Natural Science Foundation of China （No. 31140012, and No. 31040056） the Natural Science Foundation of Shanxi Province （No. 200611113） and Shanxi Scholarship Council of China （No. 2010-52）.
文摘Background The 5,10-methylenetetrahydrofolate reductase （MTHFR） and methionine synthase （MS） are attractive candidates for screening for risk of neural tube defects （NTDs）. The aim of the current study was to investigate maternal MTHFR and MS polymorphisms and the interaction between them and their influence on children with NTDs in the Shanxi Province of northern China. Methods Fifty-one mothers who previously had children with NTDs constituted the case group and 51 age-matched mothers with children that were unaffected by any birth defects constituted the control group. All subjects were genotyped for MTHFR C677T and MS A2756G polymorphisms. SPSS 11.5 software package was used for all analyses. Results There was a significant difference for MTHFR genotype distribution for one site （C677T） between the case and control groups. The T allele frequencies were significantly higher in the case group than in the control group （55.9% vs. 35.3%, P 〈0.05）. A lack of association was observed for the MS A2756G polymorphism. There was an interaction between the maternal MTHFR C677T genotype and MS A2756G genotype. Conclusion Genetic interaction between MTHFR and MS genes raises the probability of neural tube defects.
文摘目的:探讨同型半胱氨酸代谢酶蛋氨酸合成酶还原酶基因(MTRR)A66G及半胱氨酸蛋白酶抑制剂C(cystatin C)基因G73A多态性与缺血性脑血管病(ICVD)的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术检测187例ICVD患者和122例正常对照者MTRRA66G和cystatin C G73A基因多态性。结果:MTRRA66G3种基因型及等位基因频率在病例组和对照组中的分布差异均有统计学意义(χ2=7.008,P=0.030;χ2=6.045,P=0.014),其中GG型在病例组的分布频率35.3%高于对照组的23.0%(χ2=5.314,P=0.021);cystatinC3种基因型及等位基因频率在病例组和对照组中的分布差异均无统计学意义(χ2=2.859,P=0.239;χ2=2.886,P=0.089)。结论:MTRRA66G基因多态性可能与ICVD相关;GG基因型可能是ICVD的易感基因型;cystatin C G73A基因多态性与ICVD发病无关。
文摘目的：有流行病学研究显示蛋氨酸合成酶（MTRR）rs1801394和蛋氨酸还原酶（MTR）rs1805087基因多态性可能与成年人脑膜瘤患病有关。然而,不同的病例-对照研究结果却不尽相同。因此,本文采用Meta分析的方法进一步研究。方法：检索PubMed、Web of Knowledge、中国知网和万方数据库,检索时限为从建库至2013年10月30日。对合格研究进行资料提取后,采用Stata 12.0软件进行Meta分析。结果：最后纳入3篇文献,包含7项病例-对照研究。基于固定效应模型的合并结果显示MTRR rs1801394多态性与成年人脑膜瘤患病率的升高有关[GG vs AA：OR=1.41,95%CI=1.12~1.77;AG vs AA：OR=1.08,95%CI=0.94~1.33;（AG＋GG）vs AA：OR=1.19,95%CI=1.01~1.40;GG vs（AG＋AA）：OR=1.32,95%CI=1.07~1.63]。MTR rs1805087多态性与成年人脑膜瘤患病没有相关性[GG vs AA：OR=1.09,95%CI=0.80~1.48;AG vs AA：OR=0.95,95%CI=0.82~1.11;（AG＋GG）vs AA∶OR=0.97,95%CI=0.84~1.13;GG vs（AG＋AA）：OR=1.09,95%CI=0.80~1.48]。结论：当前的证据显示MTRR rs1801394多态性与成年人脑膜瘤患病率的升高有关,而MTR rs1805087多态性与成年人脑膜瘤患病无关。
