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Published on: October 25, 2019
A case-control study on SH2B1 gene variants in obesity and obstructive sleep apnea severity: genetic risk factors in
Serkan Kuccukturk1, Sebnem Yosunkaya2, Mehmet Ali Karaselek3
1Medicine Faculty, Department of Medical Biology, Karamanoğlu Mehmetbey University, Karaman, Turkey.
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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