Genetic markers of osteoarthritis: early diagnosis in susceptible Pakistani population

Abstract

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-β1 (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 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. 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 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.

Prevalence and Effects of Progressive Osteoarthritis on Sex Steroids in Male and Female Patients of District Buner, KPK Pakistan

“…(Al-Arfaj, 2002). Badshah et al, 2021, also reported that compared to the male population, women are more likely than men to have OA. (Badshah et al, 2021).…”

Analyzing PKC Gamma (+ 19,506 A/G) polymorphism as a promising genetic marker for HCV-induced hepatocellular carcinoma

“…The results analyzed based on gender and age group shows difference in OD and relative risk in male and female and suggest that a male with allele AA may have at higher risk compared to female, but no clear results were achieved from analysis based on age group because of the sample size. The association of polymorphism with genetic disease gave us an idea about susceptibility and can also be used for early diagnosis as the study of the osteoarthritis in Pakistani population revealed that polymorphisms in IL-6, TGF-beta-1 and CALM 1 genes were associated with the disease [ 36 ]. It has been established that high ALT) levels are linked with HCV induced HCC) and can lead to the disease rapidly [ 37 ].…”

Nanoparticle-Based Drug Delivery System—A Target Strategy for Osteoarthritis Treatment

“…Epidemiological studies have confirmed that genetic factors play a major role in the pathogenesis of osteoarthritis. Studies based on the family history also confirmed that OA has hereditary susceptibility [78,79]. The main mechanisms leading to OA were chemical modification of DNA, such as methylation, posttranslational modification of histones, and regulation of noncoding RNA.…”