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Association between MTHFR C677T polymorphism and congenital heart disease

A family-based meta-analysis

Assoziation zwischen MTHFR-C677T-Polymorphismus und angeborenen Herzfehlern

Familienbasierte Metaanalyse

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Abstract

Congenital heart disease (CHD) is the most common type of birth defect. It is suspected that polymorphisms in folate metabolism are associated with an increased risk of CHD, but the conclusion remains unclear. Studies have reported that the MTHFR C677T polymorphism was associated with the development of structural congenital heart malformations. The objective of this study was to conduct a meta-analysis of available studies to identify common polymorphisms in the MTHFR gene in children with CHD and their mothers and to test for an association between genotype and disease. In all, 19 eligible studies comprising 4,219 cases and 20,123 controls were included in this meta-analysis. A significant association was found between the MTHFR C677T polymorphism and CHD risk (OR: 1.26; 95 % CI = 1.06–1.51; p = 0.009) with no strong evidence of heterogeneity (I2 = 39 %) in the fetal analysis. In the maternal analysis, the MTHFR C677T polymorphism was significantly associated with CHD risk (OR = 1.52; 95 % CI =  1.09–2.11; p = 0.01) with significant heterogeneity (I2 = 63 %).

Zusammenfassung

Angeborene Herzfehler („congenital heart disease“, CHD) stellen die häufigste Art von Geburtsfehlern dar. Es wird angenommen, dass Polymorphismen im Folsäuremetabolismus mit einem erhöhten Risiko für CHD assoziiert sind, aber die Folgerung bleibt unklar. Studien zufolge ist der MTHFR-C677T-Polymorphismus mit der Entwicklung struktureller angeborener Herzvitien assoziiert. Ziel der vorliegenden Studie war es, eine Metaanalyse der verfügbaren Studien durchzuführen, um häufige Polymorphismen im MTHFR-Gen bei Kindern mit CHD und ihren Müttern zu erkennen und im Hinblick auf eine Assoziation von Genotyp und Erkrankung zu prüfen. Es wurden 19 geeignete Studien mit 4219 Fällen und 20.123 Kontrollen in die Metaanalyse eingeschlossen. Eine signifikante Assoziation stellte sich zwischen dem MTHFR-C677T-Polymorphismus und dem CHD-Risiko heraus (Odds Ratio, OR: 1,26; 95%-Konfidenzintervall, 95%-KI: 1,06–1,51; p = 0,009), dabei fanden sich keine deutlichen Belege für Heterogenität (I2 = 39 %) in der fetalen Analyse. In der maternalen Analyse war der MTHFR-C677T-Polymorphismus signifikant mit dem CHD-Risiko assoziiert (OR: 1,52; 95%-KI: 1,09–2,11; p = 0,01), und es bestand eine signifikante Heterogenität (I2 = 63 %).

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Compliance with ethical guidelines

Conflict of interest. Z. Li, Y. Jun, R. Zhong-bao, L. Jie, and L. Jian-ming state that there are no conflicts of interest. The accompanying manuscript does not include studies on humans or animals.

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Authors and Affiliations

  1. Department of Cardiology, Institute of Medical Research, Taizhou People’s Hospital, Yingchun Road 210, 225300, Taizhou, Jiangsu Province, China

    Z. Li, Y. Jun, R. Zhong-bao, L. Jie & L. Jian-ming

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  1. Z. Li
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  2. Y. Jun
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  3. R. Zhong-bao
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  4. L. Jie
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  5. L. Jian-ming
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Correspondence to Y. Jun.

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Li, Z., Jun, Y., Zhong-bao, R. et al. Association between MTHFR C677T polymorphism and congenital heart disease. Herz 40 (Suppl 2), 160–167 (2015). https://doi.org/10.1007/s00059-014-4144-8

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  • DOI: https://doi.org/10.1007/s00059-014-4144-8

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