Atta-ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Islamabad, 44000, Pakistan.
Type D hospital, LORA, Abbottabad, Khyber Pakhtunkhwa, Pakistan.
J Orthop Surg Res. 2021 Feb 9;16(1):124. doi: 10.1186/s13018-021-02230-x.
Osteoarthritis (OA) is a multiple factorial disease with unidentified specific markers. The alternate method such as biochemical and genetic markers for the diagnosis of osteoarthritis is an undeniable need of the current era. In the present study, we aimed to investigate the association of interleukin-6 (IL-6)(IL-6-174G/C), transforming growth factor-β1 (TGF-beta1-29C/T), and calmodulin 1 gene-16C/T (CALM1-16C/T) polymorphism in clinically definite Pakistani OA patients and matching controls.
The study design was based on biochemical analysis of OA via serum hyaluronic acid (HA) enzyme-linked immunosorbent assay (ELISA) test and genetic analysis based on amplification refractory mutation system (ARMS) PCR. Statistical evaluations of allele probabilities were carried through chi-squared test. This study includes 295 subjects including 100 OA patients, 105 OA susceptible, and 90 controls.
HA levels obtained were distinct for all the populations: patients with a mean value of ± 5.15, susceptible with mean value of ± 2.27, and control with mean value of ± 0.50. The prevalent genotypes in OA were GG genotype for IL-6-174G/C, CT genotypes for TGF β1-29C/T, and TT genotype for CALM1-16C/T polymorphism. A significant P value of 0.0152 is obtained as a result of the comparison among the patients and controls on the number of individuals possessing the disease-associated genotypes.
The positive association of GG genotype for IL-6-174G/C, TT genotype for CALM1-16C/T polymorphism in OA while high prevalence of CT TGF β1-29 C/T genotypes in susceptible population in our study group implies these polymorphisms can serve as susceptible marker to OA and genetic factors for screening OA patients in Pakistan. There might be other factors that may influence disease susceptibility. However, further investigations on larger population are required to determine the consequences of genetic variations for prediagnosis of OA.
骨关节炎（OA）是一种多因素疾病，其特定标志物尚未明确。当前，人们迫切需要一种替代方法，通过生化和遗传标志物来诊断骨关节炎。在本研究中，我们旨在探讨白细胞介素-6（IL-6）（IL-6-174G/C）、转化生长因子-β1（TGF-β1）（TGF-β1-29C/T）和钙调蛋白 1 基因-16C/T（CALM1-16C/T）多态性与巴基斯坦临床确诊 OA 患者及匹配对照者之间的关联。
该研究设计基于 OA 的生化分析，通过血清透明质酸（HA）酶联免疫吸附试验（ELISA）检测，并基于扩增受阻突变系统（ARMS）PCR 进行遗传分析。通过卡方检验对等位基因概率进行统计评估。该研究共纳入 295 例受试者，包括 100 例 OA 患者、105 例 OA 易感者和 90 例对照者。
所有人群的 HA 水平均存在明显差异：患者的平均水平为±5.15，易感者的平均水平为±2.27，对照组的平均水平为±0.50。OA 中常见的基因型为 IL-6-174G/C 的 GG 基因型、TGF-β1-29C/T 的 CT 基因型和 CALM1-16C/T 多态性的 TT 基因型。患者与对照组之间在具有疾病相关基因型的个体数量上的比较得出具有统计学意义的 P 值为 0.0152。
在本研究组中，IL-6-174G/C 的 GG 基因型、OA 中的 TT 基因型和 CALM1-16C/T 多态性易感人群中 TGF-β1-29C/T 基因型的高流行率表明这些多态性可作为 OA 的易感标志物，也是巴基斯坦筛查 OA 患者的遗传因素。可能存在其他影响疾病易感性的因素。然而，需要对更大的人群进行进一步研究，以确定遗传变异对 OA 预测诊断的影响。
