Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Department of Epidemiology, Division of Drug Safety and Epidemiology, Novartis Farmaceutica S.A., Barcelona, Spain.
Respirology. 2015 Nov;20(8):1172-81. doi: 10.1111/resp.12656. Epub 2015 Oct 6.
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.
囊性纤维化（CF）在亚洲人群中的报道较少，这是由于诊断不足和缺乏集中的 CF 患者登记册。来自亚洲的 CF 病例的临床研究记录了疾病的严重病程。该人群中囊性纤维化跨膜电导调节因子（CFTR）变体的谱非常异质。总共在大约 3700 条亚洲 CF 染色体上报告了 166 种变体。与白种人相比，亚洲人中 F508del 的频率较低。最近的体外研究表明，对 45 种不同 CFTR 变体进行小分子矫正和增效具有前景。其中，16 种（包括 G551D 和 F508del）也在亚洲 CF 个体中观察到。我们建议广泛开展分子研究，对 CFTR 变体进行注释，这将有助于亚洲 CF 个体从西方国家日益兴起的精准医学中受益。
