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Type:	Artigo de Periódico
Title:	Evaluation of clinical and genetic factors in obstructive sleep apnoea
Other Titles:	Valutazione dei fattori clinici e genetici nella sindrome da apnee ostruttive del sonno
Authors:	Maria de Lourdes Rabelo Guimarães Pedro Guimarães de Azevedo Renan Pedra de Souza Eitan Friedman Luíz Armando Cunha de Marco Luciana Bastos Rodrigues
Abstract:	Purpose. To evaluate the correlation between several presumed candidate genes for obstructive sleep apnoea (OSA) and clinical OSA phenotypes and propose a predictive comprehensive model for diagnosis of OSA. Methods. This case-control study compared polysomnographic patterns, clinical data, morbidities, dental factors and genetic data for polymorphisms in PER3, BDNF, NRXN3, APOE, HCRTR2, MC4R between confirmed OSA cases and ethnically matched clinically unaffected controls. A logistic regression model was developed to predict OSA using the combined data. Results. The cohort consisted of 161 OSA cases and 81 controls. Mean age of cases was 53.5 ± 14.0 years, mostly males (57%) and mean body mass index (BMI) of 27.5 ± 4.3 kg/ m2. None of the genotyped markers showed a statistically significant association with OSA after adjusting for age and BMI. A predictive algorithm included the variables gender, age, snoring, hypertension, mouth breathing and number of T alleles of PER3 (rs228729) presenting 76.5% specificity and 71.6% sensitivity. Conclusions. No genetic variant tested showed a statistically significant association with OSA phenotype. Logistic regression analysis resulted in a predictive model for diagnosing OSA that, if validated by larger prospective studies, could be applied clinically to allow risk stratification for OSA.
Subject:	Genética Síndromes da apnéia do sono Algorítmos genéticos
language:	eng
metadata.dc.publisher.country:	Brasil
Publisher:	Universidade Federal de Minas Gerais
Publisher Initials:	UFMG
metadata.dc.publisher.department:	MEDICINA - FACULDADE DE MEDICINA
Rights:	Acesso Aberto
metadata.dc.identifier.doi:	10.14639/0392-100X-N2532
URI:	http://hdl.handle.net/1843/79738
Issue Date:	10-Oct-2023
metadata.dc.url.externa:	https://old.actaitalica.it/article/view/2532
metadata.dc.relation.ispartof:	Acta Otorhinolaryngol Italica
Appears in Collections:	Artigo de Periódico

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