Investigating the Association of MTHFR C677T Gene Polymorphism with Recurrent Spontaneous Abortion Among Azerbaijani Women from Northwest Iran.

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY
Genetic testing and molecular biomarkers Pub Date : 2023-10-01 Epub Date: 2023-10-19 DOI:10.1089/gtmb.2023.0330
Amin Moqadami, Abedeh Rezaei, Alireza Ahmadi, Parastoo Badamchizadeh, Zahra Karimi, Faezeh Molaei, Mohammad Khalaj-Kondori
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引用次数: 0

Abstract

Background: Recurrent spontaneous abortion (RSA), defined as two or more succeeding abortions during 20 weeks of gestation, affects 3-5% of pregnancies. Several studies have found that most women with RSA had at least one (and sometimes two copies) of the methylenetetrahydrofolate reductase (MTHFR) C677T variant. Materials and Methods: The study involved 118 women who had two or more spontaneous abortions (SAs) as the case group and 118 women who had at least one live birth but no SA as the control group. Clinical features such as age, body mass index (BMI), medication received, family history of abortion, and thrombophilia were investigated. Real-time PCR was used for genotyping subjects for MTHFR C677T gene polymorphism. Results: Significant differences in age, BMI, and medication received characters have been shown between those in the patients' group. For the MTHFR C677T gene, the genotypes for the patients' group were 36%, 60%, and 4%, whereas the genotypes for the control group were 30%, 58%, and 12%. In addition, the C and T allelic frequencies were 59% and 41% in the healthy control group and 67% and 33% in the patients' group, respectively. A significant association was found between the TT genotype and RSA. A 3.84-fold increased risk of RSA was associated with the TT genotype (odds ratio = 3.84, confidence interval: 1.28-10.93, p-value = 0.02). Conclusions: In this study, homozygosity for the T allele was significantly lower in the RSA-affected than in healthy women, whereas heterozygosity did not vary substantially between the two groups, which was in line with other studies.

伊朗西北部阿塞拜疆妇女MTHFR C677T基因多态性与复发性自然流产的相关性研究。
背景:复发性自然流产(RSA),定义为妊娠20周内连续两次或多次流产,影响3-5%的妊娠。几项研究发现,大多数RSA女性至少有一种(有时是两种)亚甲基四氢叶酸还原酶(MTHFR)C677T变体。材料和方法:该研究涉及118名有两次或两次以上自然流产(SA)的妇女作为病例组,118名至少有一次活产但没有SA的妇女作为对照组。研究了年龄、体重指数(BMI)、接受的药物、流产家族史和血栓形成倾向等临床特征。采用实时聚合酶链式反应对MTHFR C677T基因多态性进行分型。结果:患者组在年龄、BMI和用药特征方面存在显著差异。对于MTHFR C677T基因,患者组的基因型分别为36%、60%和4%,而对照组的基因类型分别为30%、58%和12%。此外,C和T等位基因频率在健康对照组分别为59%和41%,在患者组分别为67%和33%。TT基因型与RSA之间存在显著相关性。RSA风险增加3.84倍与TT基因型相关(比值比 = 3.84,置信区间:1.28-1.093,p值 = 0.02)。结论:在这项研究中,受RSA影响的女性T等位基因的纯合性明显低于健康女性,而两组之间的杂合性没有显著差异,这与其他研究一致。
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来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
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