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Investigating the association of the oxytocin receptor (OXTR) rs53576 SNP with type 2 diabetes using RT-PCR hybridization probe analysis

Year: 2026

Type: article

Abstract: Oxytocin and its receptor (OXTR) have been implicated in metabolic regulation, insulin sensitivity, and emotional well-being. The rs53576 single-nucleotide polymorphism (SNP), an intronic A > G transition in intron 3 of the OXTR gene, influences oxytocin signalling, which may impact glucose metabolism and susceptibility to type 2 diabetes mellitus (T2DM). This study investigates the association of rs53576 with T2DM using an SNP-specific hybridization RT-PCR probe assay and assesses its correlation with glycemic control. A case-control design enrolled 200 T2DM patients diagnosed by ADA criteria (HbA1c ≥ 6.5%, FPG ≥ 126 mg/dL, or 2-h PG ≥ 200 mg/dL) and 200 age- and sex-matched normoglycemic controls. Ethical approval was obtained from the Institutional Review Board, CMH Kharian Medical College (IRB No. 05-2023-05/01). Genomic DNA was extracted by the phenol-chloroform method. Genotyping was performed using dual-labelled fluorescent hybridization probes (FAM for the A allele; HEX for the G allele) with melting curve analysis to differentiate GG, AG, and AA genotypes. Allele and genotype frequencies were compared using chi-square tests; association with T2DM risk and HbA1c was evaluated by logistic regression. Among 99 evaluable T2DM patients, the GG genotype predominated (64.65%; G allele frequency 77.27%), contrasting with preliminary control data ( n = 5; GG 40%; G allele 40%). The AA genotype showed an inverse distribution (10.10% in cases vs. 60% in controls), suggesting a potential protective effect of the A allele. The logistic regression OR for GG vs. AA + AG was 0.625 (95% CI: 0.365–1.074; p = 0.087), a non-significant trend attributable to the limited control sample size. These preliminary findings suggest a potential association between the OXTR rs53576 G allele and T2DM susceptibility. Completion of the full control cohort and functional validation studies is required before definitive conclusions can be drawn. Not applicable.

Source: BMC Endocrine Disorders

DOI: 10.1186/s12902-026-02522-5