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Obstructive sleep apnoea syndrome and HLA in the North of Portugal

L. Silva, J. Lopes, J. Ramalheira, D. Cunha, C. Carvalho, A. Bettencourt, S. Brás, P. Costa, M.B. Silva, A. Martins-da-Silva [REV NEUROL 2015;61:301-307] PMID: 26411274 DOI: https://doi.org/10.33588/rn.6107.2015199

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Volumen 61 | Number 07 | Nº of views of the article 5.914 | Nº of PDF downloads 319 | Article publication date 01/10/2015

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ABSTRACT

INTRODUCTION The obstructive sleep apnoea syndrome (OSAS) is a common, complex and polygenic disease with diverse aetiologies interacting to produce a single phenotype. OSAS occurs throughout the entire lifespan and familial aggregation has been suggested. Several predisposing factors, as age, gender and obesity have been described. Associations between HLA polymorphisms and sleep disorders are confirmed, in European and Non-European descendent populations. However the associations found between HLA alleles and OSAS have not been consistent and have no informative value for sleep disorder classification. AIMS. To explore the genetic association of HLA with OSAS in a northern Portuguese population and to evaluate the role of obesity in the context of HLA in OSAS.

PATIENTS AND METHODS A cohort of 131 patients with OSAS was studied. Patients followed up in an Outpatient Sleep Clinic were assessed by clinical history, night sleep polygraphic recording, multiple sleep latency test (when necessary for differential diagnosis), laboratorial and demographic studies. A control population (CP) of 223 healthy individuals was used for comparison. HLA-DRB1 genotyping was performed using a polymerase chain reaction with sequence specific primers methodology.

RESULTS In this cohort, the HLA-DRB1*03 allele was identified as a susceptibility factor for OSAS (24% OSAS vs. 15% CP; p = 0.025; odds ratio = 1.861; 95% CI = 1.081-3.205). No significant differences were found for other HLA-DBR1* alleles. CONCLUSION. HLA-DRB1*03 is a susceptibility factor for OSAS in Portuguese population. KeywordsGender HLA-DRB1*03 Obesity Obstructive sleep apnoea syndrome (OSAS)Risk factors Sleep disorders CategoriesInfecciones Neuropsiquiatría Sueño

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Obstructive sleep apnoea syndrome and HLA in the North of Portugal