Human Leucocyte Antigen (HLA) B27 Allele Positivity Rate Among Patients Suffering From Spondyloarthritis and Its Distribution According to Age and Gender: A Hospital-Based Cross-Sectional Study.

Introduction The risk of developing spondyloarthritis (SpA) is significantly increased by human leucocyte antigen (HLA) B27 allele positivity. Despite the wide genetic diversity among the population of North-East India, studies on SpA and its genetic markers are scarce. The current study employed the sequence-specific primer polymerase chain reaction (SSP-PCR) technology to estimate the HLA-B27 allele positivity rate among patients suffering from SpA and to assess its distribution according to age and gender. Methods Ethylenediaminetetraacetic acid (EDTA) blood samples were collected from routine cases of clinically diagnosed/suspected SpA. DNA was isolated from all blood samples using a silica-based spin column approach. PCR amplification for the HLA-B27 allele was performed using the SSP technique. Results In this study, 207 clinically diagnosed/suspected SpA cases were tested for the HLA-B27 allele. Out of 207 cases, 40 (19.3%) had a clinical diagnosis and 167 (80.7%) had a clinical suspicion with a variety of symptoms. Of these, 70 (33.8%) patients had positive HLA-B27 allele tests, with 59 (35.5%) being clinically suspected. Age and gender were found to significantly affect HLA-B27 allele positivity, especially in cases that were clinically suspected (p<0.05). HLA-B27 allele positivity varied significantly with age and gender (p<0.05). The most often diagnosed clinical form of spondylitis was ankylosing spondylitis with 28 (70%) cases among whom seven (25%) were HLA-B27 allele positives. Backache and stiffness in the lower back and hip were the commonest presentation among clinically confirmed cases and were mostly observed among ankylosing spondylitis cases (24, 88.9%). For the clinically suspected cases, the most prevalent presenting symptoms were lower back pain (56, 33.5%) and back pain (33, 19.8%). It was discovered that HLA-B27 allele positivity was independently associated with male sex and people between 15 and 30 years of age. Conclusion HLA-B27 allele is prevalent in this region with male preponderance among the patients. HLA-B27-allele-positive patients might encounter an early onset of symptoms. The positivity rate was nearly twice as high in men and three times higher among individuals aged 15-30 years. Early diagnosis and understanding of disease patterns may enhance treatment effectiveness. Hence, it might be used for the early diagnosis of the disease.