Liping Yang1, Xiaobo Gao2, Haiyan Luo2, Qiuyu Huang1, Dongmei Su2, Xinyu Tan3, Cailing Lu2,4. 1. 1 Department of Cardiovascular Surgery, Union Hospital, Fujian Medical University , Fuzhou, China . 2. 2 Department of Genetics, National Research Institute for Family Planning , Beijing, China . 3. 3 CAS Key Laboratory of Genome Sciences and Information, Chinese Academy of Sciences, Beijing Institute of Genomics , Beijing, China . 4. 4 Graduat e School of Peking Union Medical College , Beijing, China .
Abstract
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.
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 VSDpatients 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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