妊娠期女性MTHFR 677C>T基因多态性分布特征及其与妊娠高血压疾病的相关性

Distribution Characteristics of MTHFR 677C>T Gene Polymorphism in Pregnant Women and Its Correlation with Hypertension during Pregnancy

目的探讨妊娠期女性MTHFR 677C>T基因多态性分布情况,并初步分析该基因多态性与妊娠期高血压疾病的相关性,以期了解该基因的人群遗传特征突变情况,为妊娠女性个体化叶酸的补充及个体保健提供科学依据。方法选取2016年10月至2017年9月在昆明市延安医院进行孕期检查的2476例妊娠女性,通过数字荧光分子杂交(DFMH)进行检测,统计分析基因多态性的分布特征及其与妊娠期高血压疾病的关系,并与已报道的其他地区女性的数据进行比较。结果MTHFR 677C>T基因型频率分别为CC 40.59%,CT 44.67%,TT 14.74%,等位基因频率C62.92%,T37.08%;与淄博、郑州、琼海基因型频率及等位基因频率有统计学差异;妊娠高血压疾病患者90例,该组MTHFR 677C>T基因型频率分别为CC 36.67%,CT 52.22%,TT 11.11%,等位基因频率分别为C 62.78%、T 37.22%,但与对照组MTHFR 677C>T等位基因频率,差异无统计学意义(P>0.05);同时在妊娠期高血压与子痫前期中,MTHFR 677C>T基因多态性,差异无统计学意义(P>0.05)。结论MTHFR 677C>T基因突变率较高,妊娠期妇女应重视叶酸的个体化补充;然而MTHFR 677C>T基因多态性可能不是妊娠高血压疾病的危险因素,与妊娠高血压疾病的发病无明显相关性,但也可能是回顾性研究的局限性导致的研究偏差。

Objective To inverstigate the association between methylenetetrahydrofolate reductase(MTHFR)677C>T gene polymorphism and pregnancy induced hypertension in pregnant women.Methods Ninety HDCP patients who underwent prenatal examination in Yan'an Hospital of Kunming City from October 2016 to September 2017 were selected as the experimental group,and 2386 pregnant women without HDCP were selected as the control group.The correlation between the polymorphism of MTHFR 677C>T gene and the experimental group and the control group was analyzed by digital fluorescence molecular hybridization(DFMH).Results The genotype frequencies of MTHFR 677C>T CT were 52.22%in the experimental group and 44.38%in the control group.There was no significant difference between the two groups(P>0.05).The frequency of mutant T allele was 37.22%in the experimental group and 37.07%in the control group.There was no significant difference between the two groups(P>0.0).Conclusion The 677C>T polymorphism of MTHFR gene may not be a risk factor for HDCP,and may not be associated with the occurrence of HDCP,but it may also result from the limitation of retrospective study.