Role of the IL‑10 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 IL‑10 gene, particularly at rs1800896, can affect cytokine expression and consequently, disease susceptibility. The present study aimed to investigate the association between the IL‑10 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 IL‑10 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 IL‑10 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 IL‑10 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.