Impact of thrombospondin-2 gene variations on the risk of thoracic aortic dissection in a Chinese Han population

Int J Clin Exp Med. 2014 Dec 15;7(12):5796-801. eCollection 2014.

Abstract

Objective: Genetic factors play an important role in thoracic aortic dissection (TAD) etiology and thrombospondin-2 gene (THBS2) polymorphisms may be involved. This study tried to examine the single-nucleotide polymorphisms (SNP) rs8089 of THBS2 for their association with TAD susceptibility in Chinese Han population.

Methods: The rs8089 SNP of THBS2 was genotyped in 112 subjects who were diagnosed as TAD and in 184 age- and gender-matched matched controls.

Results: The THBS2 rs8089 SNP was associated with increased TAD susceptibility for allele level comparison (P < 0.0001), and for dominant model (P = 0.0073) or extreme genotype model (P = 0.0459) in Chinese Han Population. But for the recessive model, no statistical difference was found (P = 0.099), which may be resulted from the relatively small sample size and low genotype frequency.

Conclusion: In conclusion, the present study suggested that the THBS2 rs8089 variant was associated with TAD, with the G allele representing a risk factor in a Chinese Han population.

Keywords: Thrombospondin-2; gene polymorphisms; thoracic aortic dissection.