Expert review of endocrinology & metabolism · 2025
A case-control study on SH2B1 gene variants in obesity and obstructive sleep apnea severity: genetic risk factors in the leptin signaling pathway.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Kuccukturk Serkan, Yosunkaya Sebnem, Karaselek Mehmet Ali, Demirel Sennur, Vural Hasibe
Аннотация
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.
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.