SMAD3基因rs12901499变异与印尼老年妇女膝骨性关节炎的关系

A. Zaki, C. Adhiyanto, L. Hendarmin, Fauzia Ilman Naqiya, Dwi Karni, Zeti Harriyati
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摘要

SmallMotherAgainstDecapetraptic3(SMAD3)是TGF-β信号通路中的一种细胞内转导蛋白,在维持关节软骨方面发挥作用。已经进行了许多研究来检验SMAD3基因多态性与骨关节炎(OA)发病率的影响。本研究的目的是确定SMAD3基因rs12901499变异与印尼妇女膝关节骨性关节炎发病率的关系。我们进行了一项横断面分析设计,涉及24名膝关节骨性关节炎患者和50名非骨性关节炎受试者。DNA取自唾液,并使用Integrated DNA Technologies的试剂盒和实时PCR方法进行基因分型。在本研究中,我们发现rs12901499等位基因的GA基因型(杂合突变体)是在膝关节OA患者和非OA受试者(50%)中最常见的等位基因(50%)。在所有参与者中,G等位基因频率高于A等位基因。卡方分析显示,SMAD3 rs12901499基因的等位基因变异与膝关节骨性关节炎之间没有统计学上显著的关系(p=1)。总之,SMAD3基因的rs12901499基因变异与印尼老年妇女膝骨关节炎的发病率之间没有统计学上的显著关系。
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Association of SMAD3 Gene rs12901499 Variation with Knee Osteoarthritis in Indonesian Aged Women
Small Mother Against Decapentaplegic 3 (SMAD3), an intracellular transducer protein in the TGF-β signaling pathway, has a role in maintaining joint cartilage. Many studies have been conducted to examine the effect of polymorphism in SMAD3 gene with the incidence of osteoarthritis (OA). The objective of this study is to identify the association of SMAD3 gene rs12901499 variation with the incidence of knee OA in Indonesian women. We conducted an analytic cross-sectional design involving 24 knee OA patients and 50 non-OA subjects. The DNA was taken from saliva and genotyped using a kit from Integrated DNA Technologies with the Real Time PCR method. In this study, we found that the GA genotype (heterozygous mutant) of the rs12901499 allele was the allele that most frequently (50%) appeared in knee OA patients as well as non-OA subjects (50%). The G allele frequency was higher than the A allele among all participants. The Chi-Square analysis showed that there was no statistically significant relationship between allele variations in the SMAD3 rs12901499 gene and knee OA (p=1). In conclusion, there was no statistically significant relationship between the rs12901499 genetic variation in the SMAD3 gene and the incidence of knee osteoarthritis in Indonesian aged women.
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