Association of MMP-2 gene haplotypes with thoracic aortic dissection in chinese han population

作者：Liu, Ou; Li, Jiachen; Xin, Yi; Qin, Yanwen; Li, Haiyang; Gong, Ming; Liu, Yuyong; Wang, Xiaolong; Li, Jianrong; Zhang, Hongjia^*

来源：BMC Cardiovascular Disorders, 2016, 16(1): 11.

DOI：10.1186/s12872-016-0188-4

• MMP-2 gene
• Single nucleotide polymorphism
• Thoracic aortic dissection

Background: Thoracic aortic dissection (TAD) is the most common life-threatening disorder, and MMP-2 is involved in TAD pathogenesis. Our purpose is to systematically evaluate the association of the MMP-2 gene with TAD risk in Chinese Han population.
Methods: In our case-control study, we recruited 755 unrelated participants: 315 case participants with TAD and 440 controls. Twenty-two tag SNPs were selected from MMP-2 gene and were genotyped. Genotype data were analyzed by logistic regression.
Results: Although we did not find any significant association for MMP-2 SNPs using single-marker analysis, we identified many windows with haplotype frequencies significantly different between case participants and control participants using a variable-sized sliding-window strategy. In particular, the most significant association was shown by a 2-SNP window consisting of rs2241145 and rs9928731 (omnibus test: asymptotic P-asym = 7.48 x 10 (-5) and empirical P-emp = 0.001867). There were two protective haplotypes: CT (P-asym = 0.00303; odds ratio [OR], 0.403) and GC (P-asym = 0.000976; OR, 0.448).
Conclusions: MMP-2 haplotypes are associated with genetic susceptibility to thoracic aortic dissection in Chinese Han population.

• 出版日期2016-1-14
• 单位首都医科大学