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677C>T基因多态性及同型半胱氨酸水平的性别差异对不良妊娠结局发生情况的影响

Effects of Gender Differences in 677C > T and Homocysteine Level on the Occurrence of Adverse Pregnancy Outcomes.

作者信息

Guo Qian-Nan, Liao Shi-Xiu, Liu Hong-Yan, Gao Yue, Lou Gui-Yu

机构信息

Department of Medical Genetic Center of Henan Provincial People's Hospital (People's Hospital of Zhengzhou University), People's Hospital of Henan University, Zhengzhou, Henan, China.

Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Zhengzhou, Henan, China.

出版信息

Int J Genomics. 2025 Aug 22;2025:9133866. doi: 10.1155/ijog/9133866. eCollection 2025.

Abstract

The MTHFR 677C > T polymorphism in women has been associated with an increased risk of deep venous thrombosis and adverse pregnancy outcomes (APOs). However, research concerning its effects in men remains limited. This study examined 662 adults with a history of pregnancies affected by chromosomal abnormalities (CAs: 343 females and 319 males), 137 adults with a history of pregnancies affected by cleft lip and palate (CLP: 71 females and 66 males), and 133 adults with a history of biochemical pregnancies (BPs: 65 females and 68 males), forming three case groups. A control group of 339 adults without APOs (221 females and 118 males) was studied. The genotypes of the 677C > T polymorphism and Hcy levels were analyzed for all participants. Elevated Hcy levels were identified as a risk factor for CA, CLP, and BP in both adult females and males. The 677C > T polymorphism was a risk factor for CA, CLP, and BP in females, whereas in males, it was a risk factor for CA and BP, but not for CLP. Individuals with the TT genotype exhibited the highest Hcy levels compared to those with CC and CT genotypes, across both genders and all groups. Males exhibited significantly higher Hcy levels and a significantly greater incidence of hyperhomocysteinemia compared to females across all groups. The 677C > T polymorphism was a gender-dependent risk factor for fetal CLP but was gender-independent for BP and fetal CA. Elevated Hcy levels were a gender-independent risk factor for BP, CLP, and CA. Individuals with the 677TT genotype were more likely to have elevated Hcy levels, and there were notable gender differences in Hcy levels and hyperhomocysteinemia incidence.

摘要

女性体内的亚甲基四氢叶酸还原酶(MTHFR)677C>T基因多态性与深静脉血栓形成风险增加及不良妊娠结局(APO)有关。然而,关于其对男性影响的研究仍然有限。本研究对662名有染色体异常(CA)妊娠史的成年人(343名女性和319名男性)、137名有唇腭裂(CLP)妊娠史的成年人(71名女性和66名男性)以及133名有生化妊娠(BP)史的成年人(65名女性和68名男性)进行了检查,形成了三个病例组。对339名无APO的成年人(221名女性和118名男性)组成的对照组进行了研究。分析了所有参与者的677C>T基因多态性基因型和同型半胱氨酸(Hcy)水平。Hcy水平升高被确定为成年女性和男性发生CA、CLP和BP的危险因素。677C>T基因多态性是女性发生CA、CLP和BP的危险因素,而在男性中,它是发生CA和BP的危险因素,但不是CLP的危险因素。与CC和CT基因型个体相比,TT基因型个体在所有性别和所有组中均表现出最高的Hcy水平。在所有组中,男性的Hcy水平显著高于女性,高同型半胱氨酸血症的发生率也显著更高。677C>T基因多态性是胎儿CLP的性别依赖性危险因素,但对BP和胎儿CA是性别独立危险因素。Hcy水平升高是BP、CLP和CA的性别独立危险因素。携带677TT基因型的个体更有可能出现Hcy水平升高,并且Hcy水平和高同型半胱氨酸血症发生率存在显著的性别差异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c80/12396911/2d1d0c0c8aa2/IJG2025-9133866.001.jpg

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