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 – OR_adjusted= 2.51, 95% CI: 1.22– 5.16, p = 0.012; co-dominant model: CT/CC vs TT – OR_adjusted= 2.53, 95% CI: 1.26– 5.07, p = 0.009; additive model – OR_adjusted= 2.26, 95% CI: 1.19– 4.28, p = 0.013) and rs5275 (dominant model: GG vs AA – OR_adjusted= 0.31, 95% CI: 0.12– 0.80, p = 0.016; co-dominant model: GA/GG vs AA – OR_adjusted= 0.45, 95% CI: 0.21– 0.95, p = 0.036; additive model – OR_adjusted= 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: ischemic stroke, genetic variation, IL1A , IL1B , PTGS2 , MMP2 , MMP9 , risk