Pharmacogenomics and Personalized Medicine (Aug 2021)

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

  • Zhang Z,
  • Mei Y,
  • Xiong M,
  • Lu F,
  • Zhao X,
  • Zhu J,
  • He B

Journal volume & issue
Vol. Volume 14
pp. 977 – 986

Abstract

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Zhongqiu Zhang,1,2,* Yanping Mei,3,* Mengqiu Xiong,3 Fang Lu,1,2 Xianghong Zhao,1,2 Junrong Zhu,1,2 Bangshun He1,3 1School of Basic Medicine & Clinical Pharmacy, China Pharmaceutical University, Nanjing, 211198, Jiangsu Province, People’s Republic of China; 2Department of Pharmacy, Nanjing First Hospital, Nanjing Medical University, Nanjing, 210006, Jiangsu Province, People’s Republic of China; 3Department of Laboratory Medicine, Nanjing First Hospital, Nanjing Medical University, Nanjing, 210006, Jiangsu Province, People’s Republic of China*These authors contributed equally to this workCorrespondence: Bangshun HeDepartment of Laboratory Medicine, Nanjing First Hospital, Nanjing Medical University, Nanjing, Jiangsu Province, 210006, People’s Republic of ChinaEmail [email protected] ZhuDepartment of Pharmacy, Nanjing First Hospital, Nanjing Medical University, 68 Changle Road, Nanjing, Jiangsu Province, 210006, People’s Republic of ChinaEmail [email protected]: 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: ischemic stroke, genetic variation, IL1A, IL1B, PTGS2, MMP2, MMP9, risk

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