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MTHFR c.1793G>A polymorphism is associated with congenital cardiac disease in a Chinese population

Published online by Cambridge University Press:  07 April 2010

Jing Xu ,
Xiaohan Xu ,
Lei Xue ,
Xiang Liu ,
Haiyong Gu ,
Hailong Cao ,
Wanshan Qiu ,
Zhibin Hu ,
Hongbing Shen  and
Yijiang Chen
Jing Xu
Affiliation:
Department of Thoracic and Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Peoples Republic of China
Xiaohan Xu
Affiliation:
Department of Thoracic and Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Peoples Republic of China
Lei Xue
Affiliation:
Department of Thoracic and Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Peoples Republic of China
Xiang Liu
Affiliation:
Department of Thoracic and Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Peoples Republic of China
Haiyong Gu
Affiliation:
Department of Thoracic and Cardiovascular Surgery, Zhenjiang First People's Hospital, Peoples Republic of China
Hailong Cao
Affiliation:
Department of Thoracic and Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Peoples Republic of China
Wanshan Qiu
Affiliation:
Department of Thoracic and Cardiovascular Surgery, The Second Affiliated Hospital of Nanjing Medical University, Peoples Republic of China
Zhibin Hu
Affiliation:
Department of Epidemiology and Biostatistics, Nanjing Medical University, Peoples Republic of China
Hongbing Shen
Affiliation:
Department of Epidemiology and Biostatistics, Nanjing Medical University, Peoples Republic of China
Yijiang Chen*
Affiliation:
Department of Thoracic and Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Peoples Republic of China
*
Correspondence to: Dr Y. Chen, Department of Thoracic and Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Peoples Republic of China, 210029. Tel: +86 25 85038012; Fax: +86 25 83719809; E-mail: [email protected]
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Abstract

Objectives

To investigate whether genetic variants in methylenetetrahydrofolate reductase (MTHFR) and methylenetetrahydrofolate dehydrogenase (MTHFD) genes are associated with risk of congenital cardiac disease.

Background

Accumulative evidence suggests that hyperhomocysteinaemia is associated with risk of congenital cardiac disease. Inherited polymorphisms in key folate metabolic pathway genes, MTHFR and MTHFD, may influence the efficiency of folate metabolism and plasma level of homocysteine.

Methods

A two-stage case–control study of congenital cardiac disease was conducted by genotyping MTHFR c.1793G>A and four other variants – MTHFR c.677C>T, c.1298A>C, and MTHFD c.1958G>A, c.401C>T – in a Chinese population consisting of 1033 congenital cardiac disease patients and 1067 non-congenital cardiac disease patients.

Results

The variant genotypes of MTHFR c.1793GA/AA were associated with a significantly decreased risk of congenital cardiac disease in two stages combined, with an adjusted odds ratio of 0.67 and a 95% confidence interval of 0.54–0.84 (p = 0.0004). In comparison with wild-type homozygote c.1793GG, the effect was significant in isolated perimembranous ventricular septal defect patients with an adjusted odds ratio of 0.60 and a 95% confidence interval of 0.43–0.83 (p = 0.0003).

Conclusion

These findings indicate that MTHFR c.1793G>A may have a role in susceptibility to sporadic congenital cardiac disease.

Keywords

Geneticshomocysteinemalformationvariant
Type
Original Articles
Information
Cardiology in the Young , Volume 20 , Issue 3 , June 2010 , pp. 318 - 326
Copyright
Copyright © Cambridge University Press 2010

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