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Association of MTHFR A1298C polymorphism with conotruncal heart disease

Published online by Cambridge University Press:  30 December 2014

Beyza D. Sayin Kocakap ,
Cihat Sanli ,
Feryal Cabuk ,
Murat Koc  and
Ali Kutsal
Beyza D. Sayin Kocakap*
Affiliation:
Faculty of Medicine, Department of Medical Genetics, Kirikkale University, Kirikkale, Turkey
Cihat Sanli
Affiliation:
Department of Pediatric Cardiology, Faculty of Medicine, Kirikkale University, Kirikkale, Turkey
Feryal Cabuk
Affiliation:
Faculty of Medicine, Department of Medical Genetics, Kirikkale University, Kirikkale, Turkey
Murat Koc
Affiliation:
Department of Cardiovascular Surgery, Ankara Dr Sami Ulus Obstetrics and Gynecology, Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey
Ali Kutsal
Affiliation:
Department of Cardiovascular Surgery, Ankara Dr Sami Ulus Obstetrics and Gynecology, Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey
*
Correspondence to: Dr D. B. Sayin Kocakap, Department of Medical Genetics, Faculty of Medicine, Kirikkale University, 71450 Yahsihan, Kirikkale, Turkey. Tel: +90-318-333-5000/5784; Fax: +90-318-225-2819; E-mail: dsayin@yahoo.com
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Abstract

Congenital heart diseases are common congenital anomalies with 1% prevalence worldwide and are associated with significant childhood morbidity and mortality. Among a wide range of aetiologically heterogeneous conditions, conotruncal anomalies account for approximately one-third of all congenital heart defects. The aetiology of conotruncal heart diseases is complex, with both environmental and genetic causes. Hyperhomocysteinaemia, which is often accompanied by the defects of folic acid metabolism, is known to cause conotruncal heart anomalies. In this study, we have evaluated three polymorphisms in the following two hyperhomocysteinaemia-related genes: methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) and nicotinamide N-methyl transferase (NNMT rs694539) in 79 children with conotruncal heart disease and 99 children without conotruncal heart disease. Genotype distribution of the MTHFR A1298C polymorphism showed a statistically significant difference between the two groups. In the case group, AC and CC genotypes were higher than the control group (p<0.05). We have found that MTHFR A1298C polymorphism is associated with conotruncal heart disease; C allele (p=0.028), AC (OR[95% CI]=2.48[1.24–4.95], p=0.010), CC (OR[95% CI]=3.01[1.16–7.83], p=0.023), and AC+CC (OR[95% CI]=2.60[1.36–4.99], p=0.004) genotypes are more frequent in the patient group. Genotype distributions of the MTHFR C677T and NNMT rs694539 polymorphisms were similar in the two groups when evaluated separately and also according to the dominant genetic model (p>0.05). Our results suggest that MTHFR 1298C allele is a risk factor for conotruncal heart disease.

Keywords

Conotruncal heart diseaseMTHFR geneC677T polymorphismA1298C polymorphismNNMT geners694539 polymorphism
Type
Original Articles
Information
Cardiology in the Young , Volume 25 , Issue 7 , October 2015 , pp. 1326 - 1331
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Copyright
© Cambridge University Press 2014 

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