天津医药

天津医药 ›› 2020, Vol. 48 ›› Issue (5): 391-395.doi: 10.11958/20190814

• 临床研究 • 上一篇    下一篇

叶酸代谢相关基因多态性与男性精子异常的相关性研究 #br#

王志强 1，陕文生 1△，田昕 2，刘春辉 1，孙庆梅 1，俞国强 3，刘霄雯 3
  

  1. 1甘肃省妇幼保健院（邮编 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

  • 收稿日期:2019-03-19 修回日期:2019-08-26 出版日期:2020-05-15 发布日期:2020-06-24
  • 通讯作者: 陕文生 E-mail:2791363269@qq.com
  • 基金资助:
    甘肃省自然科学基金资助项目（1606RJZA167）

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

WANG Zhi-qiang1, SHAN Wen-sheng1△, TIAN Xin2, LIU Chun-hui1, SUN Qing-mei1, YU Guo-qiang3, LIU Xiao-wen3 #br#   

  1. 1 Gansu Provincial Maternity and Child-Care Hospital, Gansu 730050, China; 2 Hainan Zhujian Center of Molecular
    Cytogenetic Clinical Testing; 3 China Maternal and Child Health Association
  • Received:2019-03-19 Revised:2019-08-26 Published:2020-05-15 Online:2020-06-24

PDF (PC)

5009

摘要： 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。

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

Abstract: Abstract: Objective To investigate the relationship between genetic polymorphisms of folic metabolic enzymes and
male sperm abnormality or adverse pregnancy. Methods A total of 929 males of Han nationality treated in Gansu
Provincial 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 cases
of unexplained adverse pregnancy) and control group (441 cases of healthy people without adverse pregnancy). Genotypes of
MTHFR C677T, A1298C and MTRR A66G sites were detected in three groups of patients. Results The genotype
frequencies of MTHFR C677 TT, MTRR A66 AG and GG were significantly higher in dysspermia group and adverse
pregnancy group than those of control group (P＜0.05). The genotype frequency of MTHFR A1298C CC was significantly
higher in adverse pregnancy group than that of control group (P＜0.05). Multivariate Logistic regression showed that MTHFR
C677 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).
Conclusion The genetic polymorphisms of MTHFR C677T and MTRR A66G may contribute to male sperm abnormality
and adverse pregnancy. MTHFR C677 TT, MTRR A66 AG and GG may be independent risk factors for male sperm
abnormality and adverse pregnancy.

Key words: infertility,male, 5, 10- methyle- netetrahydrofolate reductase (FADH2), polymorphism,single nucleotide;
methionine synthase reductase, sperm abnormality, adverse pregnancy, genetic polymorphisms

中图分类号: