Association of IP6K3 gene SNP rs791903 and Hashimoto’s thyroiditis in a cohort of Egyptian patients

Abstract Introduction Hashimoto’s thyroiditis (HT) is a common autoimmune disease influenced by genetic predisposition and environmental factors. Single-nucleotide polymorphisms (SNPs) in immune-related genes have been implicated n the genetic susceptibility to autoimmune diseases. The SNP rs791903 in the IP6K3 gene (chromosome 6p21; G/C, with C as the minor allele) has been linked to several autoimmune and inflammatory conditions. However, data in non-Caucasian populations, particularly regarding HT, remain limited. Objective To investigate the association between IP6K3 SNP rs791903 and Hashimoto’s thyroiditis in an Egyptian cohort. Materials and methods One hundred participants were enrolled: 50 patients with HT and 50 age- and sex-matched healthy controls. Genomic DNA was extracted from EDTA whole-blood samples using the QIAamp DNA Blood Mini Kit (Qiagen, Hilden, Germany). Genotyping of SNP rs791903 (G/C) was performed using a TaqMan allelic discrimination assay on a real-time PCR platform. Results Genotype distribution of SNP rs791903 differed significantly between patients and controls. The CC genotype was more frequent among patients with HT than among controls. Conclusion The CC genotype of IP6K3 SNP rs791903 was more frequent among patients with HT and was associated with elevated serum anti-TPO levels. This association should be interpreted cautiously, given the exploratory design and limited sample size.