期刊
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
卷 52, 期 -, 页码 83-93出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.biocel.2014.02.011
关键词
Cystic fibrosis; CFTR; Lung; Physiopathology; Modifier genes
Cystic fibrosis (CF) is recognized as a single gene disorder. However, a considerable diversity in its clinical phenotype has been documented since the description of the disease. Identification of additional gene alleles, so called modifier genes that directly influence the phenotype of CF disease became a challenge in the late '90ies, not only for the insight it provides into the CF pathophysiology, but also for the development of new potential therapeutic targets. One of the most studied phenotype has been the lung disease severity as lung dysfunction is the major cause of morbidity and mortality in CF. This review details the results of two main genetic approaches that have mainly been explored so far: (1) an a priori approach, i.e. the candidate gene approach; (2) a without a priori approach, analyzing the whole genome by linkage and genome-wide association studies (GWAS), or the whole exome by exome sequencing. (C) 2014 Elsevier Ltd. All rights reserved.
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