Association of TGF-β1 gene polymorphisms in exon1 and blood levels with essential hypertension

Abstract Aims. Based on a case-control study, we investigated the relationship between +869T/C and +915G/C gene polymorphisms in transforming growth factor-β1 (TGF-β1), protein levels and essential hypertension (EH) in the Kazakh and Han Chinese populations selected from the Boertonggu countryside of Shawan region in the Xinjiang Uygur Autonomous Region of China (n=1600). The polymorphisms of TGF-β1 and the blood levels were detected using polymerase chain reaction-restriction fragment length polymorphism assays and sandwich ELISA, respectively. Major findings. An association was found between +869C-allele with higher risk of EH in these two populations. We also found that the CG haplotype of the two polymorphisms was associated with EH in the Kazakh EH patients. The levels of TGF-β1 in the blood were positively correlated with diastolic blood pressure both in the Kazakh and Han EH patients. Levels of the TGF-β1 protein in the Kazakh EH patients were significantly higher than those in the Han EH patients. Principal conclusion. These results suggest that the TGF-β1 +869 C allele is potentially a genetic factor of EH in these two ethnicities, the CG haplotype can be a genetic marker of EH in the Kazakh Chinese and the high concentration of TGF-β1 is possibly associated with EH, especially in the Kazakh population.