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Identification of polymorphisms in HTR2A gene related to obstructive sleep apnea syndrome


Obstructive Sleep Apnea Syndrome (OSAS) is a disturb of the sleep characterized by the recurrent collapse, sleep-induced, of the pharyngeal airway leading to hypoxemia and hypercapnia. It's one of the disturbs of the sleep most complex, therefore multiple genetic factors can contribute beyond of the diverse component factors for phenotype. The serotonin (5-hydroxytryptamine, 5-HT) is involved in the regulation of a variety of visceral and physiological functions. It is apparent that serotonergic system is important component of sleep and patency of airway during sleep. Therefore factors that can affect activity of this system may lead to sleep disorders as well as sleep-disordered breathing. The 5-HT2A receptor is an essential component of the serotonergic system. Expression of the receptor is under control of genes. Thus polymorphism of the gene that codes for the receptor may affect functional status of the receptor, and turn in serotonergic activity. A functional promoter variant of 5-HTR2A gene might differentially alter transcription, thereby affecting the number of receptors. Polymorphisms in HTR2 genes are associates to the some illnesses, include OSAS, by affecting the serotonergic system. Recently a silent polymorphism in the HTR2A gene was identified, which is defined by a substitution T/C at position 102, and a novel substitution G/A, at position -1438 of the promoter region of the gene has been detected, in patients with OSAS. The aims of this study is to determine the role of T102C and -1438G/A polymorphism in HTR2A gene, with the test of the Polimerase Chain Reaction/Restriction Fragment Length Polymorphism (PCR/RFLP), in sample of patients with OSAS and to collaborate, by the tests of the present study, for molecular diagnosis of the syndrome. (AU)

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(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
OTTONI DE CARVALHO, THIAGO BITTENCOURT; SUMAN, MARCELA; MOLINA, FERNANDO DRIMEL; PIATTO, VANIA BELINTANI; MANIGLIA, JOSE VICTOR. Relationship of obstructive sleep apnea syndrome with the 5-HT2A receptor gene in Brazilian patients. Sleep and Breathing, v. 17, n. 1, p. 57-62, . (08/01070-4)
VÂNIA BELINTANI PIATTO; THIAGO BITTENCOURT OTTONI DE CARVALHO; NELY SILVA ARAGÃO DE MARCHI; FERNANDO DRIMEL MOLINA; JOSÉ VICTOR MANIGLIA. Polimorfismos no gene HTR2A relacionados à síndrome da apneia obstrutiva do sono. Brazilian Journal of Otorhinolaryngology, v. 77, n. 3, p. 348-355, . (08/01070-4)

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