Genetic landscape of celiac disease: a case–control study focusing on TAGAP rs1738074 in the Sargodha population, Pakistan

Abstract Background Celiac disease (CD) is a complex immunological disorder with lifelong exposure to gluten and has generally been linked to major histocompatibility complex (MHC) Class II genes. Recent GWAS studies, however, point to the involvement of other non-HLA genes, including TAGAP, in celiac disease susceptibility. While TAGAP variants have been extensively studied in European populations, their contribution to CD risk in Asians, especially in resource-limited regions like Pakistan, remains unclear. Methods This prospective case–control study recruited 300 participants (150 CD patients, 150 healthy controls) from Niazi Medical Complex, Sargodha, Pakistan. We genotyped TAGAP rs1738074 using an in-house tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR) assay, identifying TT, CT, and CC genotypes via agarose gel electrophoresis. Analyses used SPSS V21. Results The TT and CC genotypes were common in both groups, with higher frequencies among cases. (TT: 80% vs. CC: 17%). Compared to TT genotype carriers, the CC genotype showed a potential increased CD risk (OR = 1.32, 95% CI: 0.44–3.96; p = 0.62), but the association was not statistically significant. Conclusion TAGAP rs1738074 has not demonstrated significant association with CD among the population of the Sargodha region. These findings underscore population-specific genetic factors in Asian cohorts and the need for larger, multi-center studies.