The gene rs11362 genetic variant is associated with risk of developing CAD: a case-control study.

Background: In the present study, we evaluated whether gene polymorphisms are associated with the presence of coronary artery disease (CAD).

Methods: Two rs11362 , and rs1800972 gene polymorphisms of gene were genotyped by 5'exonuclease TaqMan assays in 219 patients with CAD and 522 control individuals.

Results: The distribution of rs1800972 polymorphisms was similar in patients with CAD and healthy controls. Nonetheless, under the co-dominant, dominant, recessive, and additive models, the genotype of the rs11362 polymorphism was associated with the risk of developing CAD (OR = 1.89 pC = 0.041, OR = 1.46, pC = 0.034, OR = 1.69, pC = 0.039, and OR = 1.37, pC = 0.012, respectively). In addition, the linkage disequilibrium showed that the '' haplotype was associated with an increased risk of developing CAD (OR = 1.23,  = 0.042). According, with the Genotype-Tissue Expression (GTEx) consortium data, the rs11362 genotype is associated with a low mRNA expression of the β-defensin-1 in tissues, such as artery aorta, artery coronary, heart left ventricle, and heart atrial appendage ( < 0.001).

Conclusion: This study demonstrates that rs11362 polymorphism of the gene is involved in the risk of developing CAD, and with a low RNA expression of the β-defensin-1 in heart tissue.