Objective To examine the relationship between occurrence of hyperlipidemia, plasma homocysteine and polymorphisms of methylenetetra hydrofolate reductase （MTHFR） gene and methionine synthase （MS） gene. Methods A t...Objective To examine the relationship between occurrence of hyperlipidemia, plasma homocysteine and polymorphisms of methylenetetra hydrofolate reductase （MTHFR） gene and methionine synthase （MS） gene. Methods A total of 192 hyperlipidemia patients were selected and divided into hypercholesterolemia group, hypertriglyceridemia group, and combined hyperlipidemia group. Another 208 normal individuals were selected as control. Total plasma homocysteine （tHcy） concentration was measured by high-performance liquid chromatography （HPLC）. Lipid profiles were measured for all subjects The polymorphisms of MTHFR gene C677T and MS gene A2756G were analyzed by PCR-RFLP. Results The tHcy concentration in the combined hyperlipidemia patients was significantly higher than that in the control （15.95μmol/L vs 13.43 μmol/L, P〈0.05）. The prevalence of hyperhomocysteinemia （HHcy） in the combined hyperlipidemia group was significantly higher than that in the control （42.2% vs 23.0%, P=0.015）, with the odds ratio （OR） of 3.339 （95%CI： 1.260-8.849）. The hyperlipidemia patients with HHcy had a higher concentration of total cholesterol （TC） than that in the normal tHcy patients （5.67±0.95 mmol/L vs 5.47±0.92 retool/L, P=0.034）. There was no significant difference in genotype or allele frequencies of MTHFR C677T between the hyperlipidemic and control groups. The hyperlipidemia patients with MTHFR CT/TT genotype had a higher concentration of triglyceride （TG） than those with CC genotype （2.24±1.75 mmol/L vs 1.87±0.95 mmol/L, P〈0.05）. Individuals with CT/TT genotype had a higher concentration of tHcy than those with 677CC genotype both in the hyperlipidemia group （12.61±1.24μmol/L vs 11.20±1.37 μmol/L, P〈0.05） and in the control group （14.04±1.48 μmol/L vs 12.61±1.24 μmol/L, P〈0.05）. The percentage of MS 2756 GG/AG genotype in the combined hyperlipidemia group was significantly higher than that in the control （26.7% vs 13.0%, P=0.012）, with the OR of 3.121 （95%C1： 1.288-7.65/）. The hyperlipidemia patients with MS 2756AG/GG genotype had a higher concentration of TC （5.87±0.89 mmol/L vs 5.46±0.93 retool/L, P〈0.05） and LDL-C （3.29±0.81 mmol/L vs 2.94±0.85 retool/L, P〈0.05） than those with AA genotype. However, individuals with 2756AG/GG genotype showed no significant difference in tHcy among those with AA genotype. Conclusion HHcy and MS A2756G mutation may be the risk factors for combined hyperlipidemia. Further study is needed to confirm the role of HHcy and MS A2756G mutation in the development of hyperlipidemia.展开更多
①目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因A1298C多态性与皖北地区非综合征性唇腭裂(non-syndromiccleft lip with or without cleft palate,NSCL/P)人群的相关性。②方法选取2018年1月~2019年5月皖北地区100例NSCL/P患者作为观察组,...①目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因A1298C多态性与皖北地区非综合征性唇腭裂(non-syndromiccleft lip with or without cleft palate,NSCL/P)人群的相关性。②方法选取2018年1月~2019年5月皖北地区100例NSCL/P患者作为观察组,另取120例正常儿童作为对照组,应用Taqman实时荧光定量PCR法,对MTHFR基因A1298C位点的多态性进行检测,并比较两组等位基因和基因型分布。③结果唇腭裂患儿和正常儿童基因型均未偏离哈迪温伯格遗传平衡定律(P>0.05);观察组和对照组的等位基因及基因型分别进行比较,AA、AC、CC 3种基因型分布差异有统计学意义(P<0.05),A等位基因和C突变等位基因的分布差异有统计学意义(P<0.05)。皖北地区流行病学调查表显示叶酸摄入与唇腭裂发生呈负相关。④结论MTHFR基因A1298C位点多态性与皖北地区人群NSCL/P的发生可能存在关联。并且孕妇孕早期叶酸摄入可预防唇腭裂的发生。展开更多
基金supported by Beijing Natural Science Foundation, China (No. 7072044).
文摘Objective To examine the relationship between occurrence of hyperlipidemia, plasma homocysteine and polymorphisms of methylenetetra hydrofolate reductase （MTHFR） gene and methionine synthase （MS） gene. Methods A total of 192 hyperlipidemia patients were selected and divided into hypercholesterolemia group, hypertriglyceridemia group, and combined hyperlipidemia group. Another 208 normal individuals were selected as control. Total plasma homocysteine （tHcy） concentration was measured by high-performance liquid chromatography （HPLC）. Lipid profiles were measured for all subjects The polymorphisms of MTHFR gene C677T and MS gene A2756G were analyzed by PCR-RFLP. Results The tHcy concentration in the combined hyperlipidemia patients was significantly higher than that in the control （15.95μmol/L vs 13.43 μmol/L, P〈0.05）. The prevalence of hyperhomocysteinemia （HHcy） in the combined hyperlipidemia group was significantly higher than that in the control （42.2% vs 23.0%, P=0.015）, with the odds ratio （OR） of 3.339 （95%CI： 1.260-8.849）. The hyperlipidemia patients with HHcy had a higher concentration of total cholesterol （TC） than that in the normal tHcy patients （5.67±0.95 mmol/L vs 5.47±0.92 retool/L, P=0.034）. There was no significant difference in genotype or allele frequencies of MTHFR C677T between the hyperlipidemic and control groups. The hyperlipidemia patients with MTHFR CT/TT genotype had a higher concentration of triglyceride （TG） than those with CC genotype （2.24±1.75 mmol/L vs 1.87±0.95 mmol/L, P〈0.05）. Individuals with CT/TT genotype had a higher concentration of tHcy than those with 677CC genotype both in the hyperlipidemia group （12.61±1.24μmol/L vs 11.20±1.37 μmol/L, P〈0.05） and in the control group （14.04±1.48 μmol/L vs 12.61±1.24 μmol/L, P〈0.05）. The percentage of MS 2756 GG/AG genotype in the combined hyperlipidemia group was significantly higher than that in the control （26.7% vs 13.0%, P=0.012）, with the OR of 3.121 （95%C1： 1.288-7.65/）. The hyperlipidemia patients with MS 2756AG/GG genotype had a higher concentration of TC （5.87±0.89 mmol/L vs 5.46±0.93 retool/L, P〈0.05） and LDL-C （3.29±0.81 mmol/L vs 2.94±0.85 retool/L, P〈0.05） than those with AA genotype. However, individuals with 2756AG/GG genotype showed no significant difference in tHcy among those with AA genotype. Conclusion HHcy and MS A2756G mutation may be the risk factors for combined hyperlipidemia. Further study is needed to confirm the role of HHcy and MS A2756G mutation in the development of hyperlipidemia.
文摘①目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因A1298C多态性与皖北地区非综合征性唇腭裂(non-syndromiccleft lip with or without cleft palate,NSCL/P)人群的相关性。②方法选取2018年1月~2019年5月皖北地区100例NSCL/P患者作为观察组,另取120例正常儿童作为对照组,应用Taqman实时荧光定量PCR法,对MTHFR基因A1298C位点的多态性进行检测,并比较两组等位基因和基因型分布。③结果唇腭裂患儿和正常儿童基因型均未偏离哈迪温伯格遗传平衡定律(P>0.05);观察组和对照组的等位基因及基因型分别进行比较,AA、AC、CC 3种基因型分布差异有统计学意义(P<0.05),A等位基因和C突变等位基因的分布差异有统计学意义(P<0.05)。皖北地区流行病学调查表显示叶酸摄入与唇腭裂发生呈负相关。④结论MTHFR基因A1298C位点多态性与皖北地区人群NSCL/P的发生可能存在关联。并且孕妇孕早期叶酸摄入可预防唇腭裂的发生。
