The Role of Single Nucleotide Polymorphisms in Beta-2 Adrenergic Receptors in the Severity of Obstructive Sleep Apnea Syndrome in Pediatric Patients

Background: Obstructive sleep apnea syndrome (OSAS) is a chronic syndrome, affecting about 1%-5% of children. OSAS is characterized by increased resistance and collapse of the upper airways, with different degrees of severity requiring interventions ranging from lifestyle modifications to surgery. Sympathetic activity is increased in OSAS, and the reduction of disease symptoms, occurring after adenotonsillectomy, correlates with biomarkers indicating a reduced sympathetic response. The aim of this study is to explore the potential role of single nucleotide polymorphisms (SNPs) in the gene encoding β2-adrenergic receptors (ADRB2) as a biomarker for the early identification of pediatric OSAS patients at high risk of developing severe symptoms.

Materials and methods: In this exploratory genetic study, the frequencies of functional SNPs in ADRB2 within a cohort of pediatric patients were evaluated by using reverse transcription-polymerase chain reaction with TaqMan probes. The severity of OSAS was assayed by the apnea-hypopnea index (AHI).

Results: The rs1042713 SNP (GG genotype) in ADRB2 was more frequent in patients with severe OSAS compared to patients with mild/moderate OSAS.

Conclusions: The availability of genetic biomarkers for the early identification of patients at high risk of severe OSAS will help clinicians start personalized treatments, thus reducing morbidity associated with OSAS.