叶酸代谢相关基因多态性与男性精子异常的相关性研究  

Study on the association of genetic polymorphisms of folic metabolic enzymes and male sperm abnormality

作　　者：王志强[1] 陕文生[1] 田昕 刘春辉 孙庆梅[1] 俞国强 刘霄雯 WANG Zhi-qiang;SHAN Wen-sheng;TIAN Xin;LIU Chun-hui;SUN Qing-mei;YU Guo-qiang;LIU Xiao-wen(Gansu Provincial Maternity and Child-Care Hospital,Gansu 730050,China;Hainan Zhujian Center of Molecular Cytogenetic Clinical Testing;China Maternal and Child Health Association)

机构地区：[1]甘肃省妇幼保健院,730050 [2]海南主健细胞分子遗传医学检验中心 [3]中国妇幼保健协会

出　　处：《天津医药》2020年第5期391-395,共5页Tianjin Medical Journal

基　　金：甘肃省自然科学基金资助项目(1606RJZA167)。

摘　　要：目的探讨男性5,10-亚甲基四氢叶酸还原酶(MTHFR)基因和甲硫氨酸合成酶还原酶(MTRR)基因与精子异常及不良孕产发生的相关性。方法选择2017年1月-12月就诊于甘肃省妇幼保健院男科的汉族男性929例,其中患有精子异常症者(精子异常组)290例,妻子有不明原因不良孕产史者(不良孕产组)198例和有健康生育史者(对照组)441例,所有入组者进行MTHFR C677T、A1298C和MTRR A66G位点的多态性检测,探讨其与精子异常和不良孕产的相关性。结果精子异常组和不良孕产组的MTHFR C677T TT和MTRR A66G AG、GG基因型频率均高于对照组(P<0.05);不良孕产组的MTHFR A1298C CC基因型频率高于对照组(P<0.05)。多元Logistic回归分析结果显示,MTHFR C677T TT和MTRR A66G AG、GG基因型是导致精子异常发生的独立危险因素(P<0.05);MTHFR C677T TT、MTHFR A1298 CC和MTRR A66G AG、GG基因型是导致不良孕产发生的独立危险因素(P<0.05)。结论MTHFR C677T和MTRR A66G位点的基因多态性分布与男性精子异常及不良孕产的发生有相关性,MTHFR C677T TT和MTRR A66G AG、GG可能是精子异常及不良孕产发生的独立危险因素。ObjectiveTo investigate the relationship between genetic polymorphisms of folic metabolic enzymes andmale sperm abnormality or adverse pregnancy.MethodsA total of 929 males of Han nationality treated in GansuProvincial Maternity and Child-Care Hospital from January 2017 to December 2017 were selected as the research objects.The patients were divided into the dysspermia group(290 cases of sperm abnormality),adverse pregnancy group(198 casesof unexplained adverse pregnancy)and control group(441 cases of healthy people without adverse pregnancy).Genotypes ofMTHFR C677 T,A1298 C and MTRR A66 G sites were detected in three groups of patients.ResultsThe genotypefrequencies of MTHFR C677 TT,MTRR A66 AG and GG were significantly higher in dysspermia group and adversepregnancy group than those of control group(P<0.05).The genotype frequency of MTHFR A1298 C CC was significantlyhigher in adverse pregnancy group than that of control group(P<0.05).Multivariate Logistic regression showed that MTHFRC677 TT,MTRR A66 AG and GG genotypes were independent risk factors for sperm abnormality(P<0.05).MTHFR C677 TT,MTHFR 1298 CC and MTRR A66 AG and GG genotypes were independent risk factors for adverse pregnancy(P<0.05).ConclusionThe genetic polymorphisms of MTHFR C677 T and MTRR A66 G may contribute to male sperm abnormalityand adverse pregnancy.MTHFR C677 TT,MTRR A66 AG and GG may be independent risk factors for male spermabnormality and adverse pregnancy.

关 键 词：不育 男(雄)性 5 10-亚甲基四氢叶酸还原酶(FADH2) 多态性 单核苷酸 甲硫氨酸合成酶还原酶 精子异常 不良孕产 基因多态性 

分 类 号：R698.2[医药卫生—泌尿科学]