Pharmacogenomics and Personalized Medicine (Apr 2022)
Association of IL-6 and TGF-β Gene Polymorphisms with the Risk of Thoracolumbar Osteoporotic Vertebral Compression Fractures
Abstract
Yi Xiong,1 Ye He,2 Yan Peng,3 Yun Geng4 1Department of Orthopaedic, The Central Hospital of Enshi Tujia and Miao Autonomous Prefecture, Hubei, People’s Republic of China; 2Department of Preventive Treatment of Diseases,Shaanxi Meixian Hospital of Traditional Chinese Medicine, Shaanxi, People’s Republic of China; 3Department of Medical Examination, Yili Kazak Autonomous Prefecture Hospital of Traditional Chinese Medicine, Xinjiang, People’s Republic of China; 4Department of Pharmacology, Shandong First Medical University and Shandong Academy of Medical Sciences, Shandong, People’s Republic of ChinaCorrespondence: Yun Geng, Tel/Fax +86-531-59556066, Email [email protected]: Osteoporotic vertebral compression fracture (OVCF) is a common disease in the elderly, and genetic factors play a key role in its occurrence. The present study was conducted to investigate the association between interleukin-6 (IL-6) and the transforming growth factor (TGF-β) gene polymorphisms and the occurrence of thoracolumbar OVCF.Patients and Methods: This case–control study recruited 146 patients with OVCF and 144 osteoporosis patients as the control group. Genotypes of the IL-6 rs1800796 and TGF-β rs1982073 were analyzed by sequencing. Genotype distribution and allelic frequencies were investigated by the χ2 test. Odds ratios (OR) and 95% confidence intervals (CI) evaluated the relationship of IL-6 or TGF-β polymorphism and OVCF susceptibility.Results: Allele G and genotype GG of IL-6 rs1800796 was more frequent in patients with OVCF (40.07% vs.28.47%; 19.18% vs.7.64%) compared with controls. GG genotype (OR=3.394, 95% CI=1.560– 7.385, P < 0.001) and G allele (OR=1.680, 95% CI=1.187– 2.376, P < 0.001) of IL-6 rs1800796 was significantly associated with increased risk of OVCF. What is more, CT and TT genotypes (41.78 vs.51.39; 19.86 vs.26.39) and allele T (40.75 vs 52.08) of TGF-β rs1982073 were less frequent in OVCFs, more common in controls and protective against OVCF risk (OR=0.436, 95% CI=0.228– 0.835, P = 0.012; OR=0.615, 95% CI=0.443– 0.855, P = 0.004).Conclusion: Our results suggest that the G allele and GG genotype of IL-6 rs1800796 may contribute to increased susceptibility to OVCF in elderly Chinese. In contrast, CT and TT genotypes and the T allele of TGF-β rs1982073 may contribute to lower susceptibility of OVCF.Keywords: OVCF, IL-6, TGF-β, gene polymorphisms