Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments

Meenu Singh, Cristina Rebordosa, Juliane Bernholz, Neeraj Sharma

Research output: Contribution to journalReview articlepeer-review

23 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1172-1181
Number of pages10
Issue number8
StatePublished - Nov 2015


  • CFTR
  • cystic fibrosis
  • epidemiology
  • genetics
  • potentiator

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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