title: Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.
abstract: Cystic fibrosis (CF) in the Asian population is less frequently reported due to under-diagnosis and lack of centralized CF patient registries. Clinical studies on CF cases from Asia have documented a severe course of the disease. The spectrum of the cystic fibrosis transmembrane conductance regulator (CFTR) variants in this population is quite heterogeneous. In total, 166 variants have been reported on approximately 3700 Asian CF chromosomes. The frequency of F508del among Asians is low compared with Caucasians. Recent in vitro studies have shown promise of small molecule correction and potentiation of 45 different CFTR variants. Of these variants, 16 (including G551D and F508del) have also been observed among Asian CF individuals. We suggest undertaking molecular studies extensively to annotate CFTR variants that will help Asian CF individuals to benefit from the precision medicine gaining momentum in the Western countries.
authors.affiliation: Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Meenu
authors.initials: M
authors.lastname: Singh
authors.affiliation: Department of Epidemiology, Division of Drug Safety and Epidemiology, Novartis Farmaceutica S.A., Barcelona, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Rebordosa
authors.affiliation: Department of Development, Division of Pharma, Novartis Pharma AG, Basel, Switzerland.
authors.forename: Juliane
authors.initials: J
authors.lastname: Bernholz
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Neeraj
authors.initials: N
authors.lastname: Sharma
mesh_terms: D001208:Asia / Q000453:epidemiology; D044466:Asian People / Q000235:genetics*; D003550:Cystic Fibrosis / Q000188:drug therapy / Q000453:epidemiology* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D015994:Incidence; D009154:Mutation; D057285:Precision Medicine; D015995:Prevalence
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: CFTR; cystic fibrosis; epidemiology; genetics; potentiator