PURPOSE OF REVIEW: Obstructive sleep apnoea syndrome (OSAS) is a highly prevalent disorder associated with reduced quality of life and adverse cardiovascular and metabolic sequelae. Recent years have seen an intensification of the research effort to establish the genetic contribution to the development of OSAS and its sequelae. This review explores emerging evidence in this field. RECENT FINDINGS: A genetic basis for sleep-disordered breathing has been demonstrated for discrete disorders such as Treacher-Collins and Down syndromes, but the picture is less clear in so-called idiopathic OSAS. A degree of heritability appears likely in some of the intermediate phenotypes that lead to OSAS, particularly craniofacial morphology. However, only sparse and often contradictory evidence exists regarding the role of specific polymorphisms in causing OSAS in the general population. Similarly, investigations of the cardiovascular sequelae of OSAS have in general failed to consistently find single causative genetic mutations. Nonetheless, evidence suggests a role for tumour necrosis factor-α polymorphisms in particular, and large-scale family studies have suggested shared pathogenetic pathways for the development of obesity and OSAS. SUMMARY: As with other common disorders, OSAS is likely to result from multiple gene-gene interactions occurring in a suitable environment. The application of modern genetic investigative techniques, such as genome-wide association studies, may facilitate new discoveries in this field.
PURPOSE OF REVIEW: Obstructive sleep apnoea syndrome (OSAS) is a highly prevalent disorder associated with reduced quality of life and adverse cardiovascular and metabolic sequelae. Recent years have seen an intensification of the research effort to establish the genetic contribution to the development of OSAS and its sequelae. This review explores emerging evidence in this field. RECENT FINDINGS: A genetic basis for sleep-disordered breathing has been demonstrated for discrete disorders such as Treacher-Collins and Down syndromes, but the picture is less clear in so-called idiopathic OSAS. A degree of heritability appears likely in some of the intermediate phenotypes that lead to OSAS, particularly craniofacial morphology. However, only sparse and often contradictory evidence exists regarding the role of specific polymorphisms in causing OSAS in the general population. Similarly, investigations of the cardiovascular sequelae of OSAS have in general failed to consistently find single causative genetic mutations. Nonetheless, evidence suggests a role for tumour necrosis factor-α polymorphisms in particular, and large-scale family studies have suggested shared pathogenetic pathways for the development of obesity and OSAS. SUMMARY: As with other common disorders, OSAS is likely to result from multiple gene-gene interactions occurring in a suitable environment. The application of modern genetic investigative techniques, such as genome-wide association studies, may facilitate new discoveries in this field.
Authors: Jinkwan Kim; Rakesh Bhattacharjee; Abdelnaby Khalyfa; Leila Kheirandish-Gozal; Oscar Sans Capdevila; Yang Wang; David Gozal Journal: Am J Respir Crit Care Med Date: 2011-11-10 Impact factor: 21.405
Authors: Antonio Grilo; Elena S Ruiz-Granados; Concha Moreno-Rey; Jose M Rivera; Agustin Ruiz; Luis M Real; Maria E Sáez Journal: Gene Date: 2013-03-21 Impact factor: 3.688