TCF21 rs12190287 Polymorphisms Are Associated with Ventricular Septal Defects in a Chinese Population.

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.