Leptin and leptin receptor gene polymorphisms and obstructive sleep apnea syndrome: is there an association?

摘要

Obstructive sleep apnea syndrome (OSAS) is a common chronic disorder that often requires lifelong care. Although the pathogenetic mechanism of OSAS remains unclear, a combination of multiple gene interactions and environmental factors has been incriminated. It has been reported that genetic factors could account for about 40% of the variance in the apnea-hypopnea index (AHI) of OSAS patients [1]. Genes might increase susceptibility of OSAS through at least four primary intermediate pathogenic pathways: obesity and related metabolic phenotypes, craniofacial and upper airway morphology, control of ventilation and control of sleep and circa-dian rhythm. On the basis of this conception, researchers have sought to identify genetic variants that determine these intermediate phenotypes for OSAHS. These variants could potentially contribute to earlier recognition and treatment, as well as identification of potential targets for novel therapies.