INOSA Guidelines in the era of precision medicine.

摘要: Sir, Sharma and his co-authors are to be congratulated for their excellent comprehensive suggested first edition of the INdian initiative on Obstructive Sleep Apnoea (INOSA) guidelines published in 20141. Since described as “evidence-based”, without denigrating quality work, purpose present letter is add a few remarks two issues briefly touched these guidelines, which should further enhance justifications such evidence-based guidelines. These may also value make potentially “individualized”, since there global shift paradigms detection, management treatment medical problems significant public health burden through initiatives “precision medicine”2. Since basic premise precision medicine take into account individual variability developing strategies prevention well diseases, role genetic predisposition emphasized risk factor obstructive sleep apnoea (OSA) its associated syndromes (OSAS), mentioned Table II paper1. Our own data3 reviews notes this subject4,5 suggest that candidate gene regions shown with OSA and/or OSAS not mere statistical significance detected epidemiological case-control studies; they have functional relevance well. For example, associations OSA/OSAS polymorphisms at peroxisome proliferator-activated receptor-γ (PPARG), glucagon receptor genes directly explain co-morbid relationship centralized obesity, central adiposity. Likewise, Leptin (LEP) critical regulator adipose tissue mass body weight, it operates by inhibiting food intake stimulating energy expenditure (both involved mechanistic pathogenesis obesity6). Consequently, association LEP polymorphism likely more than only significance. The APOE could involvement neurological degeneration dyslipidaemia4. reasons, were listed OSA/OSAS4. In terms conditions, identification factors has least three important implications. First, discoveries can help defining phenotypes serve intermediate OSA, used indicators readily treatable precursors or consequences OSA/OSAS. context, worthwhile note several morbid conditions (listed III paper1) ones we detected7, precursor rather being OSA. Irrespective this, underlying would foci familial hereditary This precise (and perhaps individualized) diagnosis algorithm (depicted Figure 2 revised incorporating phenotypes. Second, correlated therapeutic targets majority area cancer treatment, use Cancer Genome Atlas (TCGA) data, efforts been proven useful identifying tissue- mutation-specific functions proteins targeted development progression otherwise aggressive cancers8. Third, sites allow clinical investigations respect ‘individual-specific’ modalities genotypes single nucleotide (SNP) rs15780, rs405509, rs769455 rs7412 gene, OSA3 tested examine if measures treating (see Box 5 work equally individuals who genetically predisposed compared others. Similar genotype-specific efficacy studies different types positive airway pressure (PAP) performed type PAP-therapy works better OSA-risk. The second issue discussed relates surgical We conducted retrospective analysis pre- post-operative (for weight-loss) polysomnographic data from adolescents severe obesity9. observed marked improvement efficiency fragmentation weight loss, consistent suggestions made section However, now emerging evidence loss results life6, resolution obesity-associated psychosocial, metabolic, cardiovascular morbidity. correction an but yet underappreciated influencing changes other major comorbidities including OSA/OSAS. In summation, Sharma et al1 provided basis INOSA substantiated attempt diagnosis, adversities, individualized characteristics patients incorporated reducing disorder.