INTERMEDIATE PHENOTYPES OF OBSTRUCTIVE SLEEP APNEA/HYPOPNEA SYNDROME

Nevrologiâ, Nejropsihiatriâ, Psihosomatika

N. A. Shnayder¹  M. M. Petrova¹  I. V. Demko¹  O. V. Alekseeva¹ 

[1] Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University;

关键词: sleep;    apnea;    hypopnea;    obstructive sleep apnea;    phenotype;    genotype;    genetics;   

DOI  :  10.14412/2074-2711-2016-4-81-86

来源: DOAJ

【 摘 要 】

Obstructive sleep apnea/hypopnea syndrome (OSAHS) is the most common type of sleep apnea. OSAHS is due to upper airway obstruction. This condition is characterized by repetitive pauses in breathing during sleep despite the efforts of the respiratory muscles and it is generally associated with decreased blood oxygen saturation. The review presents the data available in the literature on the intermediate phenotypes of OSAHS, in the development of which there may be a genetic component. It is stated that a study of the genetic basis for various OSAHS phenotypes will give a better insight into the contribution of genetic factors to the development of the disease. The review describes the genes responsible for a predisposition to the development of four major phenotypes of OSAHS. It characterizes two basic approaches to a molecular genetic study in OSAHS; these are a genetic association analysis and a linkage analysis. Taking into account the wide prevalence and social importance of OSAHS, the latter should be timely prevented and diagnosed. The adequate treatment of OSAHS and its consequences is able not only to reduce the risk of fatal complications of the disease, but also to completely eliminate its symptoms.

【 授权许可】

Unknown