IP: Maria Jesus Alonso Ramos

Resumen del proyecto: Obstructive sleep apnoea (OSA) is defined by the occurrence of repetitive episodes of complete or partial upper airway obstruction during sleep. Such episodes are often associated with arousals, sleep fragmentation, intermittent hypoxaemia and nocturnal hypertension. Its association with several chronic health conditions, particularly hypertension and cardiovascular diseases,has underscored the public health importance of this condition. An elucidation of the aetiology of OSA, and the extent to which the disorder is due to genetic factors, is needed to develop screening and treatment approaches. A study reported an association between angiotensin converting enzyme (ACE) gene polymorphism and severity of sleep apnoea. Another study compared ACE activity in patients with OSA and control subjects and showed that ACE activity is increased in patients with OSA, a finding independent of the presence of arterial hypertension, but the distribut ion of ACE genotypes and of allelic frequency in OSA patients did not differ from that determined in healthy subjects. Also conflicting are the findings regarding the possible link between apolipoprotein E genotype 4, and OSA.Apolipoprotein E is a polymorphic protein arising from three alleles at a single gene locus on chromosome 19q13.Although no difference was found in the apolipoproteinE levels between OSA patients and controls, a higher proportion of homozygotes for the E4 genotype was observed in the sleep apnoea group. Another study showed that the risk for AHI >15 was doubled among homozygotes.In a third study no association was found. Other study showed that there is a disease susceptibility locus for obstructive sleep apnoea in the region of ApoE (chromosome 19), but ApoE itself is unlikely to be the causative locus.

Entidad financiadora: Fundación General de la Universidad de Valladolid