CAJ | 학술논문

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1701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。
목적：분석호남성상담시녀성5,10-아갑기사경협산환원매（MTHFR）C677T、A1298C급갑류안산합성매환원매（MTRR）A66G위점기인다태성적분포특정，병분석기다태성여혈장동형반광안산（Hcy）수평적관계。방법이상담시1701례녀성위연구대상，검측기MTHFR C677T、A1298C화MTRR A66G위점기인다태성，병대기중110례잉기녀성검측기혈장Hcy수평。통계분석본지구기인다태성적분포특정，병여치박、정주、연태、진강、송자、혜주、경해등지구진행비교；분석다태성여혈장Hcy수평적관계。결과상담시녀성적MTHFR C677T위점TT순합돌변기인형빈솔위12.6%，고우혜주（10.9%）、경해（6.1%），저우치박(43.6%)、정주(36.8%)、연태(32.2%)、진강(21.8%)，차이균유통계학의의。여송자상비차이무통계학의의。MTHFR A1298C위점CC순합돌변기인형빈솔위4.8%，저우경해（7.1%）、고우치박（1.4%）、정주（2.4%）、연태（1.8%）、진강（3.5%）、송자（2.6%），차이균유통계학의의。MTRR A66G위점GG순합돌변기인형빈솔위6.8%，고우치박（4.8%），저우경해（9.3%），차이유통계학의의。혈장Hcy농도여MTHFR C677T위점기인형다태성유관，TT형인군Hcy농도고우CT형인군화CC형인군（μmol/L：8.52±2.01 vs 5.94±1.47 vs 5.71±0.18）；혈장Hcy농도여MTHFR A1298C위점기인형다태성유관，CC형인군Hcy농도고우AA형인군화AC형인군（μmol/L：9.83±2.26 vs 6.35±2.13 vs 5.55±1.75）；혈장Hcy농도여MTRR A66G위점기인형무관。결론상담시녀성MTHFR화MTRR기인다태성빈솔불동우기타지구，구유지역특이성。MTHFR C677T、A1298C위점다태성여Hcy수평유관。
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 Han women in Xiangtan was statistically different from other selected regions of China. Mutation in MTHFR C 677T and A1298C were associated with elevated plasma levels of Hcy.