天津医药

天津医药 ›› 2014, Vol. 42 ›› Issue (12): 1202-1208.doi: 10.3969/j.issn.0253-9896.2014.12.015

• 临床研究 • 上一篇    下一篇

湘潭市汉族女性 MTHFR 和 MTRR 基因多态性分布及其与血浆 Hcy 水平的关系

王淑媛1,鲁衍强2,马少杰2,黄京希3,杨凯云3,熊敏3,周玉珍3,杨琦4   

  1. 1. 湘潭市妇幼保健院遗传优生科
    2. 上海靶向分子医学研究所
    3. 湘潭市妇幼保健院
    4. 中国疾病预防控制中心妇幼保健中心
  • 收稿日期:2014-03-27 修回日期:2014-07-30 出版日期:2014-12-15 发布日期:2014-12-15
  • 通讯作者: 马少杰 E-mail:mashaojie@genechina.com
  • 基金资助:
    中国疾病预防控制中心妇幼保健中心妇幼保健分子遗传医学研究专项计划

Relationship of plasma homocysteine with gene polymorphisms of MTHFR and MTRR among the Han women in Xiangtan city

WANG Shuyuan 1,, LU Yanqiang 2,MA Shaojie 2,HUANG Jingxi 1,YANG Kaiyun 1,XIONG Min 1,ZHOU Yuzhen 1,YANG Qi 3   

  1. 1. Xiangtan Maternal and Child Health Hospital,
    2. Shanghai Institute of Target Molecules
    3. NationalCenter for Women and Children’ s Health, Chinese Center for Disease Control and Prevention
  • Received:2014-03-27 Revised:2014-07-30 Published:2014-12-15 Online:2014-12-15
  • Contact: MA Shaojie E-mail:mashaojie@genechina.com

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摘要：

【摘要】 目的 分析湖南省湘潭市女性 5,10-亚甲基四氢叶酸还原酶（MTHFR）C677T、A1298C 及甲硫氨酸合成酶还原酶（MTRR）A66G 位点基因多态性的分布特征， 并分析其多态性与血浆同型半胱氨酸（Hcy）水平的关系。 方法 以湘潭市 1 701 例女性为研究对象， 检测其 MTHFR C677T、A1298C 和 MTRR A66G 位点基因多态性， 并对其中 110 例孕期女性检测其血浆 Hcy 水平。 统计分析本地区基因多态性的分布特征， 并与淄博、郑州、烟台、镇江、松滋、惠州、琼海等地区进行比较；分析多态性与血浆 Hcy 水平的关系。 结果 湘潭市女性的 MTHFR C677T 位点 TT 纯合突变基因型频率为 12.6%， 高于惠州（10.9%）、 琼海（6.1%）， 低于淄博(43.6%)、 郑州 (36.8%)、 烟台 (32.2%)、 镇江 (21.8%)， 差异均有统计学意义。 与松滋相比差异无统计学意义。 MTHFR A1298C 位点 CC 纯合突变基因型频率为 4.8%， 低于琼海（7.1%）、高于淄博（1.4%）、郑州（2.4%）、烟台（1.8%）、镇江（3.5%）、松滋（2.6%）， 差异均有统计学意义。 MTRR A66G 位点 GG 纯合突变基因型频率为 6.8%， 高于淄博（4.8%）， 低于琼海（9.3%）， 差异有统计学意义。 血浆 Hcy 浓度与 MTHFR C677T 位点基因型多态性有关， TT 型人群 Hcy 浓度高于 CT 型人群和 CC 型人群（μmol/L: 8.52±2.01 vs 5.94±1.47 vs 5.71±0.18）； 血浆 Hcy 浓度与 MTHFR A1298C 位点基因型多态性有关， CC 型人群 Hcy 浓度高于 AA 型人群和 AC 型人群（μmol/L: 9.83±2.26 vs 6.35±2.13 vs 5.55±1.75）； 血浆 Hcy 浓度与 MTRR A66G 位点基因型无关。 结论 湘潭市女性 MTHFR 和 MTRR 基因多态性频率不同于其他地区， 具有地域特异性。 MTHFR C677T、 A1298C 位点多态性与 Hcy 水平有关。

关键词: 亚甲基四氢叶酸还原酶, 甲硫氨酸合成酶还原酶, 基因多态性, 同型半胱氨酸

Abstract:

[Abstract] Objective To investigate the relationship of plasma homocysteine with the genotype distribution of MTHFR and MTRR among Chinese Han women in Xiangtan. Methods MTHFR C677T, A1298C and MTRR A66G geno? typing was analyzed to detect the distribution of gene polymorphisms among 1 701 women from Xiangtan city then the data were compared with the rest of the Han women in Zibo, Zhengzhou, Yantai, Zhenjiang, Songzi, Huizhou, Qionghai. Plasma Hcy levels from 110 patients were measured and analyzed the correlation with gene polymorphisms. Results The frequency of MTHFR C677T genotype and allele frequencies in Xiangtan is 12.6% which is higher than Huizhou (10.9%) and Qionghai (6.1%) but lower than Zibo (43.6%), Zhengzhou (36.8%), Yantai (32.2%), Zhenjiang (21.8%) with statistically significant dif? ference (P < 0.05). There is no significant different in MTHFR C677T between Xiangtan and Songzi. The frequency of MTH? FR A1298C genotype and allele frequencies in Xiangtan is 4.8% which is lower than Qionghai（7.1%） but higher than Zibo （1.4%）， Zhengzhou（2.4%）, Yantai（1.8%）, Zhenjiang（3.5%） and Songzi（2.6%） with statistically significant difference. The frenquency of MTRR A66G genotype and allele frequencies in Xiangtan is 6.8% which is higher than Zibo (4.8%) but lower than Qionghai (9.3%) with statistically signifcant difference. Plasma Hcy concentration correlate with MTHFR C677T, Hcy concentration in TT population is higher than that in CT and CC population（μmol/L:8.52±2.01 vs 5.94±1.47 vs 5.71± 0.18）； Plasma Hcy concentration also correlate with MTHFR A1298C and Hcy concentration in CC population is higher than AA and AC population（μmol/L: 9.83±2.26 vs 6.35±2.13 vs 5.55±1.75）； Plasma Hcy concentration does not correlate with MTRR A66G. Conclusion The gene polymorphism of MTHFR C677T, A1298C and MTRR A66G among the Hanwomen in Xiangtan was statistically different from other selected regions of China. Mutation in MTHFR C677T and A1298C were associated with elevated plasma levels of Hcy.

Key words: Methylenetetrahydrofolate reductase, methionine synthase reductase, polymorphism, homocysteine