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

IF 2.7 Q3 ENDOCRINOLOGY & METABOLISM Expert Review of Endocrinology & Metabolism Pub Date : 2025-03-19 DOI:10.1080/17446651.2025.2478068

Serkan Kuccukturk, Sebnem Yosunkaya, Mehmet Ali Karaselek, Sennur Demirel, Hasibe Vural

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Abstract

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.

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Expert Review of Endocrinology & Metabolism ENDOCRINOLOGY & METABOLISM-

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4.80

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0.00%

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期刊介绍： Implicated in a plethora of regulatory dysfunctions involving growth and development, metabolism, electrolyte balances and reproduction, endocrine disruption is one of the highest priority research topics in the world. As a result, we are now in a position to better detect, characterize and overcome the damage mediated by adverse interaction with the endocrine system. Expert Review of Endocrinology and Metabolism (ISSN 1744-6651), provides extensive coverage of state-of-the-art research and clinical advancements in the field of endocrine control and metabolism, with a focus on screening, prevention, diagnostics, existing and novel therapeutics, as well as related molecular genetics, pathophysiology and epidemiology.