A case-control study on SH2B1 gene variants in obesity and obstructive sleep apnea severity: genetic risk factors in the leptin signaling pathway.

BACKGROUND

Obstructive sleep apnea (OSA) is a common sleep disorder, frequently observed in obese individuals, with shared mechanisms involving leptin and its receptor, which regulate appetite and energy expenditure. SH2B1 is a key enhancer of signaling in the leptin receptor pathway. This study aimed to investigate the association between SH2B1 variants and OSA.

RESEARCH DESIGN AND

METHODS

This case-control study included 160 male patients with OSA and 76 healthy controls, stratified into subgroups based on BMI (≤25 kg/m2 and ≥ 30 kg/m2). Polysomnography and anthropometric measurements were performed, and genotyping of three SH2B1 variants (rs7498665, rs4788102, and rs7359397) was conducted.

RESULTS

Mutant genotypes of all three SH2B1 variants were significantly associated with higher BMI. Additionally, normal genotypes of rs4788102 and rs7359397 were associated with higher apnea-hypopnea index (AHI) values, indicating a potential risk for OSA.

CONCLUSION

The findings suggest that while SH2B1 variants are strongly associated with BMI, specific normal genotypes may independently contribute to OSA risk by increasing AHI values.