Genetic Variation of Inflammatory Genes to Ischemic Stroke Risk in a Chinese Han Population

Pharmgenomics Pers Med. 2021 Aug 13:14:977-986. doi: 10.2147/PGPM.S320483. eCollection 2021.

Abstract

Background: Inflammation proteins play an important role in stroke occurrence. IL1A, IL1B, PTGS2, MMP2, and MMP9 were the mediators involved in the immune response, and the association of these genetic variations with ischemic stroke (IS) risk was still unclear.

Methods: To investigate the susceptibility of genetic variations of IL1A, IL1B, PTGS2, MMP2, and MMP9 to IS risk, we performed a case-control study involving 299 patients and 300 controls in a Chinese population. Thirteen genetic variations of investigated genes of all participants were genotyped using an improved multiplex ligase detection-reaction technique.

Results: No SNP in all genes showed an association with overall IS. However, in subgroup analysis, PTGS2 rs689466 (dominant model: CT vs TT - ORadjusted= 2.51, 95% CI: 1.22-5.16, p = 0.012; co-dominant model: CT/CC vs TT - ORadjusted= 2.53, 95% CI: 1.26-5.07, p = 0.009; additive model - ORadjusted= 2.26, 95% CI: 1.19-4.28, p = 0.013) and rs5275 (dominant model: GG vs AA - ORadjusted= 0.31, 95% CI: 0.12-0.80, p = 0.016; co-dominant model: GA/GG vs AA - ORadjusted= 0.45, 95% CI: 0.21-0.95, p = 0.036; additive model - ORadjusted= 0.60, 95% CI: 0.39-0.92, p = 0.020) were associated with IS type of small-vessel occlusion.

Conclusion: Our study suggested that PTGS2 rs689466 C and rs5275 A were potentially associated with IS subtype of small-vessel occlusion. Our result should be confirmed with further large sample sized studies.

Keywords: IL1A; IL1B; MMP2; MMP9; PTGS2; genetic variation; ischemic stroke; risk.

Grants and funding

This study was supported by the Innovation Team of Jiangsu Provincial Health-Strengthening Engineering by Science and Education (CXTDB2017008) and Jiangsu Youth Medical Talents Training Project to BH (QNRC2016066).