Talwar Seerat, Prasad Sweta, Kaur Lovejeet, Mishra Jyoti, Puri Manju, Sachdeva Mohinder Pal, Saraswathy Kallur Nava
Department of Anthropology, Laboratory of Biochemical and Molecular Anthropology, University of Delhi, New Delhi, India.
Maternal and Child Health Division, Translational Health Science and Technology Institute, Faridabad, Haryana, India.
J Hum Reprod Sci. 2022 Apr-Jun;15(2):191-196. doi: 10.4103/jhrs.jhrs_186_21. Epub 2022 Jun 30.
According to various epidemiological studies, the aetiology of recurrent miscarriages (RMs) is multifactorial. The goal of this study is to learn more about the link between genetic polymorphisms and RM.
To evaluate the association of 5-Methytetrahydrofolate-Homocysteine Methyltransferase (MTR) A2756G, 5-Methytetrahydrofolate-Homocysteine Methyltransferase Reductase (MTRR) A66G and cystathionine beta-synthase (CBS) 844INS68 genetic polymorphisms with RM and also to understand the combined effect of the selected genotypes.
This was a hospital-based, case-control, observational study.
A total of 516 participants were recruited in the present study, of which 200 RM cases and 258 controls were included in the present study. Fasting blood sample (~5ml) was drawn from all the participants and were screened for genetic polymorphisms of MTR A2756G, MTRR A66G and CBS 844INS68.
The frequency, odd's ratio and Hardy-Weinberg equilibrium were evaluated. SPSS (version 21.0) was used for the data analysis.
MTR A2756G genetic polymorphism was not associated with the risk of RM. The ancestral allele of MTRR A66G and the mutant allele of CBS 844INS68 was causing an increased risk of more than two folds for RM. CBS 844INS68 in combination with MTR A2756G was found to pose an increased risk of more than two folds for RM.
Genetic polymorphisms particularly MTRR A66G and CBS 844INS68 seems to be elevating the risk and hence making women susceptible for RM.
根据各种流行病学研究,复发性流产(RM)的病因是多因素的。本研究的目的是进一步了解基因多态性与RM之间的联系。
评估5-甲基四氢叶酸-同型半胱氨酸甲基转移酶(MTR)A2756G、5-甲基四氢叶酸-同型半胱氨酸甲基转移酶还原酶(MTRR)A66G和胱硫醚β-合酶(CBS)844INS68基因多态性与RM的关联,并了解所选基因型的联合作用。
这是一项基于医院的病例对照观察性研究。
本研究共招募了516名参与者,其中包括200例RM病例和258名对照。从所有参与者中采集空腹血样(约5ml),并对MTR A2756G、MTRR A66G和CBS 844INS68的基因多态性进行筛查。
评估频率、比值比和哈迪-温伯格平衡。使用SPSS(版本21.0)进行数据分析。
MTR A2756G基因多态性与RM风险无关。MTRR A66G的祖先等位基因和CBS 844INS68的突变等位基因使RM风险增加两倍以上。发现CBS 844INS68与MTR A2756G联合使RM风险增加两倍以上。
基因多态性,特别是MTRR A66G和CBS 844INS68,似乎会增加风险,从而使女性易患RM。