TY - JOUR T1 - The genetic and cardiovascular aspects of obstructive sleep apnoea/hypopnoea syndrome JF - European Respiratory Journal JO - Eur Respir J SP - 233 LP - 236 DO - 10.1183/09031936.00175908 VL - 33 IS - 2 AU - R. L. Riha AU - W. T. McNicholas Y1 - 2009/02/01 UR - http://erj.ersjournals.com/content/33/2/233.abstract N2 - In November 2006, the COST B26 action on cardiovascular disease in obstructive sleep apnoea/hypopnoea syndrome (OSAHS) convened a symposium in Copenhagen (Denmark). The symposium was an attempt to bring experts together to define the direction in which the fast pace of change in the fields of molecular biology and genetics was pushing frontiers, particularly in the context of cardiovascular diseases and OSAHS. An upcoming series that will be published over the next 6 months in the European Respiratory Journal (ERJ), presents some of the key papers from the symposium. The first paper in the series, by MacLeod et al. 1, introduces the importance of meticulous design, data collection and storage in studies of complex disease, using the example of Generation Scotland. The paper serves as the background for further contributions to the series, which continue with a discussion of the difficulties in phenotyping and, by inference, the difficulties inherent to genotyping such a complex disorder as OSAHS 2. The epidemiological aspects of OSAHS and sleep-disordered breathing (SDB) are discussed separately 3. The sequelae of OSAHS are considered in detail, particularly the molecular biology of oxidative stress mechanisms 4, as well as inflammatory pathways 5 which determine the comorbidities increasingly recognised in the context of SDB. Finally, the series concludes with evidence for and against the coexistence of and increased propensity of developing metabolic syndrome, hypertension and insulin resistance in SDB with and without hypoxaemia 6. In the first paper of the series, MacLeod et al. 1 demonstrate that when studying genetic aspects of complex diseases such as hypertension and OSAHS, good sample and data management is necessary to ensure that the data collected are stored accurately and efficiently, and passed through the process of analysis in an orderly manner. In order to be able to collect … ER -