Serkan Kuccukturk, Sebnem Yosunkaya, Mehmet Ali Karaselek, Sennur Demirel, Hasibe Vural
{"title":"肥胖和阻塞性睡眠呼吸暂停严重程度中 SH2B1 基因变异的病例对照研究：瘦素信号通路中的遗传风险因素。","authors":"Serkan Kuccukturk, Sebnem Yosunkaya, Mehmet Ali Karaselek, Sennur Demirel, Hasibe Vural","doi":"10.1080/17446651.2025.2478068","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Research design and methods: </strong>This case-control study included 160 male patients with OSA and 76 healthy controls, stratified into subgroups based on BMI (≤25 kg/m<sup>2</sup> and ≥ 30 kg/m<sup>2</sup>). Polysomnography and anthropometric measurements were performed, and genotyping of three SH2B1 variants (rs7498665, rs4788102, and rs7359397) was conducted.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":12107,"journal":{"name":"Expert Review of Endocrinology & Metabolism","volume":" ","pages":"1-8"},"PeriodicalIF":2.7000,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A case-control study on SH2B1 gene variants in obesity and obstructive sleep apnea severity: genetic risk factors in the leptin signaling pathway.\",\"authors\":\"Serkan Kuccukturk, Sebnem Yosunkaya, Mehmet Ali Karaselek, Sennur Demirel, Hasibe Vural\",\"doi\":\"10.1080/17446651.2025.2478068\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Research design and methods: </strong>This case-control study included 160 male patients with OSA and 76 healthy controls, stratified into subgroups based on BMI (≤25 kg/m<sup>2</sup> and ≥ 30 kg/m<sup>2</sup>). Polysomnography and anthropometric measurements were performed, and genotyping of three SH2B1 variants (rs7498665, rs4788102, and rs7359397) was conducted.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":12107,\"journal\":{\"name\":\"Expert Review of Endocrinology & Metabolism\",\"volume\":\" \",\"pages\":\"1-8\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2025-03-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Expert Review of Endocrinology & Metabolism\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1080/17446651.2025.2478068\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Expert Review of Endocrinology & Metabolism","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/17446651.2025.2478068","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
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.
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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
