Association of 4-basepair G-to-A transition in the 5'-untranslated region of ANKH gene with selected patients of primary knee osteoarthritis: A cross sectional study.

Abstract

A cohort study was carried out for a year to evaluate the presence of G-to-A transition in 5'-untranslated region of ankylosis human (<i>ANKH</i>) gene in Indian Khatri patients (closely resembling Europeans of primary knee osteoarthritis (OA), residing in Lucknow, India. In the total participants, 25 were Khatri primary knee OA patients (cases) residing in Lucknow and 101 were random blood donors' samples (controls) collected from a blood bank. All were studied for the abovementioned mutation using real-time polymerase chain reaction (RT-PCR). GG genotype was present in 72.3% of controls and 76% of Khatri knee OA patients. The studied G-to-A mutation was found to be positive in 24.8% of controls and 16% of cases, odds ratio (95% confidence interval) being 0.6 (0.19-1.98, <i>P</i> = 0.42). The frequency of AA (D) genotype found around 3% (cases) and 8% (controls) with <i>P</i> value of 0.70. The combined frequency of both homozygous and heterozygous mutation (GA and AA) in the studied population was 28 (27.7%) in controls and 6 (24%) in cases with the odds ratio (OD) ratio of 0.82 (0.29-2.27, <i>P</i> = 0.70). No significant differences were observed at both genotype and allelic level in the distribution of <i>ANKH-4</i> G-to-A gene polymorphism in studied subjects. This study did not show any significant G to A mutation in the studied subjects.