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Published on: March 12, 2013
TCF21 rs12190287 Polymorphisms Are Associated with Ventricular Septal Defects in a Chinese Population
Liping Yang1, Xiaobo Gao2, Haiyan Luo2
11 Department of Cardiovascular Surgery, Union Hospital, Fujian Medical University , Fuzhou, China .
Aims:
TCF21 knockout mice display cardiac defects, including ventricular septal defects (VSDs). Functional rs12190287 polymorphisms located within the 3' untranslated region (3'-UTR) of TCF21 were associated with a risk of coronary heart disease in the European and Eastern populations. However, whether rs12190287 polymorphisms in the TCF21-3'UTR confer predisposition to congenital heart disease (CHD) is unclear.
Methods:
A case-control study was designed consisting of 781 nonsyndromic VSD patients and 867 non-CHD control subjects. The genotype frequency of rs12190287 polymorphisms was determined by real-time polymerase chain reaction.
Results:
There were significant differences in the genotype and allele frequencies of rs12190287 between the cases and controls in a Chinese population. Allele G of rs12190287 was significantly associated with an increased risk of VSD in a Chinese population.
Conclusions:
Our results demonstrate that rs12190287 polymorphisms confer predisposition to VSDs in the Chinese population studied here.
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