The DEFB1 gene rs11362 A/G genetic variant is associated with risk of developing CAD: a case-control study

Abstract

Background

In the present study, we evaluated whether DEFB1 gene polymorphisms are associated with the presence of coronary artery disease (CAD).

Methods

Two rs11362 A/G, and rs1800972 C/G gene polymorphisms of DEFB1 gene were genotyped by 5’exonuclease TaqMan assays in 219 patients with CAD and 522 control individuals.

Results

The distribution of rs1800972 C/G polymorphisms was similar in patients with CAD and healthy controls. Nonetheless, under the co-dominant, dominant, recessive, and additive models, the AA genotype of the rs11362 A/G polymorphism was associated with the risk of developing CAD (OR = 1.89 pC_Co-Dom = 0.041, OR = 1.46, pC_Dom = 0.034, OR = 1.69, pC_Res = 0.039, and OR = 1.37, pC_Add = 0.012, respectively). In addition, the linkage disequilibrium showed that the ‘AG’ haplotype was associated with an increased risk of developing CAD (OR = 1.23, p = 0.042). According, with the Genotype-Tissue Expression (GTEx) consortium data, the rs11362 AA 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 (p < 0.001).

Conclusion

This study demonstrates that rs11362 A/G polymorphism of the DEFB1 gene is involved in the risk of developing CAD, and with a low RNA expression of the β-defensin-1 in heart tissue.

Keywords:

• Genetics
• susceptibility
• polymorphisms
• expression

Acknowledgments

The authors are grateful to the study participants. The authors are grateful to the technicians Silvestre Ramirez-Fuentes and Marva Arellano-Gonzalez for their participation in the collection of samples and extraction of DNA.

Institutional Review Board statement

The study was conducted in accordance with the Declaration of Helsinki, and approved by the Ethics and Research Commission of Instituto Nacional de Cardiología Ignacio Chávez (protocol code: 22-1288, approved: 8 February 2022).

Author contributions

GV-A, OP-M, and JMF were responsible for the conception and design of the study. OP-M, ID-S, RP-S, MAM-R, LAM-V, HD-R, and JR-B participated in the generation and collection of the samples. OP-M, ID-S, RP-S, MAM-R, LAM-V, HD-R, JR-B, and JMF contributed to the analysis and interpretation of data. Drafting or revision of the manuscript was handled by GV-A, OP-M, and JMF.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Data availability statement

The data presented in this study are available upon request from the corresponding author.

Additional information

Funding

This research was funded by the Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, México (Project-22-1288).