The polymorphism of SMAD3 rs1065080 is associated with increased risk for knee osteoarthritis
The mechanism of knee osteoarthritis (OA) is still not clearly elucidated. SMAD3 gene polymorphisms are considered to play a vital role in OA pathogenesis. We thus investigated the relationship of SMAD3 rs1065080 gene polymorphism and susceptibility to knee osteoarthritis in a Chinese Han population. A total of 237 patients and 142 healthy control participants were enrolled in a case–control study. DNA was extracted from peripheral blood samples and genotyped by using the Mass-ARRAY method. Our results revealed that there was a significant difference between patients and healthy controls in the genotype of A and G (p = 0.019); those with a GG genotype had a significant increase in OA risk (OR 2.881, 95% CI 1.993–7.353, p = 0.025). In addition, logistic regression analysis showed that the recessive genetic model decreased OA morbidity (OR 0.648, 95% CI 0.416–0.911, p = 0.046). In conclusion, the GG genotype of rs1065080 was associated with a higher risk of OA and the recessive genetic model decreased the risk of OA.
KeywordsOsteoarthritis Gene polymorphism SMAD 3 rs1065080 Genotype
This study was supported by the National Natural Science Foundation of China (No. 81601877).
Compliance with ethical standards
Conflict of interest
The authors declare no conflicts of interest.
The study was approved by the Ethics Committee of Xi’an Hong Hui Hospital and performed according to the guidelines of the Declaration of Helsinki. All patients provided written informed consent before their inclusion in the study.
- 11.Su SL, Yang HY, Lee HS, Huang GS, Lee CH, Liu WS et al (2015) Gene-gene interactions between TGF-beta/Smad3 signalling pathway polymorphisms affect susceptibility to knee osteoarthritis. BMJ Open 5(6):e7931Google Scholar
- 18.Sharma AC, Srivastava RN, Srivastava SR, Parmar D, Singh A, Raj S (2017) Association between single nucleotide polymorphisms of SMAD3 and BMP5 with the risk of knee osteoarthritis. J Clin Diagn Res 11(6):C1–C4Google Scholar
- 20.Fang J, Xu L, Li Y, Zhao Z (2016) Roles of TGF-beta 1 signaling in the development of osteoarthritis. Histol Histopathol 31(11):1161–1167Google Scholar