Reports of Biochemistry and Molecular Biology

en Impact of MTHFR Gene Polymorphisms C677T and A1298C on Congenital Atrial Septal Defect Risk in an Iranian Cohort زیست شناسی ملکولی Molecular Biology مقالات اصلی Original Article <div style="text-align: justify;">Background: Congenital heart defects (CHD) are recognized as the most common heart abnormalities amongst newborns and children, and atrial septal defect (ASD) is recognized as one of the most frequent forms of CHD. Prior studies indicated that the methylenetetrahydrofolate reductase (MTHFR) gene contributes to the etiology of CHD. Therefore, we designed a case-control study to assess the possible role of the MTHFR gene, specifically the C677T (rs1801133) and A1298C (rs1801131) polymorphisms within the Iranian ASD population sample. Method: A total of 166 subjects (81 children diagnosed with ASD and 85 control participants) were enrolled in this research. Samples genotyped for MTHFR rs1801133 and rs1801131 polymorphisms using the PCR-RFLP and ARMS-PCR approaches. Results: Our results indicated that rs1801131 variant reduced the risk of ASD in codominant (OR [95%CI]: 0.41[0.21-0.83], P=0.012), dominant (OR[95%CI]: 0.48 [0.25-0.93], p=0.028) and overdominant (OR[95%CI]: 0.44 [0.23-0.81], P=0.009) models. Moreover, rs1801133 variant increased the risk of ASD in codominant (OR[95%CI]: 2.68[1.39-5.16], P = 0.003), dominant (OR [95% CI]: 2.72 [1.43–5.14], P = 0.002), overdominant (OR [95% CI]: 2.50 [1.31–4.78], P = 0.005), and allelic (OR [95% CI]: 2.16 [1.27–3.69], P = 0.004) models. Conclusion: Our findings suggest that MTHFR rs1801133 and rs1801131 variants may potentially affect the onset of ASD.</div> Atrial Septal Defect, Congenital Heart Defects, Folate Metabolism, Genetic Polymorphism, Methylenetetrahydrofolate Reductase. 377 384 http://rbmb.net/browse.php?a_code=A-10-1590-1&slc_lang=en&sid=1 Noor Mohammad Noori 100319475328460020675 100319475328460020675 No Children and Adolescent Health Research Center, Resistant Tuberculosis Institute, Zahedan University of Medical Sciences, Zahedan, Iran & Department of Pediatric, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran. Saeedeh Yaghoubi 100319475328460020676 100319475328460020676 No Department of Pediatric, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran. Ali Aghighi 100319475328460020677 100319475328460020677 No Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran. Mohsen Taheri 100319475328460020678 100319475328460020678 No Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran. Gholamreza Bahari ghbahari@zaums.ac.ir. 100319475328460020679 100319475328460020679 Yes Children and Adolescent Health Research Center, Resistant Tuberculosis Institute, Zahedan University of Medical Sciences, Zahedan, Iran & Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.