Genetic markers of osteoarthritis: early diagnosis in susceptible Pakistani population

Background and aim 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-beta 1 (TGF-beta1-29C/T), and calmodulin 1 gene-16C/T (CALM1-16C/T) polymorphism in clinically definite Pakistani OA patients and matching controls. Methods 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. Results 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 beta 1-29C/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. Conclusions 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 beta 1-29 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.

Automated summary

The study identified the association of IL-6, CALM1, and TGF-β1 gene polymorphisms with osteoarthritis in Pakistani patients. These genetic variations may serve as susceptible markers for OA and could be used for screening OA patients in Pakistan. Further research on larger populations is needed to confirm the role of these genetic factors in prediagnosis of OA.