Role of the <i>IL‑10</i> gene and its genetic variations in the development of diabetes mellitus in women

Interleukin (IL)‑10 is a key anti‑inflammatory cytokine that plays a critical role in immune regulation and the pathogenesis of chronic metabolic diseases. Genetic polymorphisms in the <em>IL‑10</em> gene, particularly at rs1800896, can affect cytokine expression and consequently, disease susceptibility. The present study aimed to investigate the association between the <em>IL‑10</em> gene polymorphism (rs1800896) and the development of diabetes mellitus in women using tetra‑primer amplification refractory mutation system‑polymerase chain reaction (tetra‑ARMS‑PCR) and sequencing analysis. The present study was a case‑control study conducted on healthy women and those with diabetes. The <em>IL‑10</em> gene polymorphism (rs1800896) was investigated using tetra‑ARMS‑PCR. The results were confirmed by DNA sequencing technology by measuring the nucleotide sequencing for the amplified pieces. In the women with diabetes, three <em>IL‑10</em> genotypes (AA, AG and GG) were detected, whereas only the AA genotype was found in the healthy controls. The GG genotype appeared in 14% of the women with diabetes and in 0% of the controls. The frequency of AG genotype appearance was 6% in diabetic women vs. 0% in controls. The frequency of the mutant G allele was 17% in women with diabetes and 0% in the controls (odds ratio, 5.8) which indicates a significant association with diabetes. Sequencing analysis revealed additional nucleotide variations, including transversions and deletions. On the whole, the present study found that there was a significant association between the <em>IL‑10</em> gene polymorphism (rs1800896) and diabetes mellitus in women. The presence of the G allele may play a potential role as a genetic marker for disease vulnerability, suggesting the impact of immune regulation in the pathogenesis of diabetes.