Applications of Molecular Genetics to the Study of Asthma.
Asthma is a multifactorial disease. This fact, associated to the diversity of asthma phenotypes, has made difficult to obtain a clear pattern of inheritance. With the huge development of molecular genetics technologies, candidate gene studies are giving way to different types of studies from the genomic point of view.These approaches are allowing the identification of several genes associated with asthma. However, in these studies, there are some conflicting results between different populations and there is still a lack of knowledge about the actual influence of the gene variants. Some confounding factors are, among others, the inappropriate sample size, population stratification, differences in the classification of the phenotypes, or inadequate coverage of the genes.To confirm the real effect of the reported associations, it is necessary to consider both the genetic and environmental factors and perform functional studies that explain the molecular mechanisms mediating between the emergence of gene variants and the development of the disease.The development of experimental techniques opens a new horizon that allows the identification of major genetic factors of susceptibility to asthma. The resulting classification of the population groups based on their genetic characteristics, will allow the application of specific and highly efficient treatments.
Department of Microbiology and Genetics, University of Salamanca, Salamanca, Spain. catsof@usal.es.|Salamanca Institute for Biomedical Research (IBSAL), Salamanca, Spain. catsof@usal.es.
Catalina S
CS
Sanz-Lozano
Salamanca Institute for Biomedical Research (IBSAL), Salamanca, Spain.|Department of Clinical Genetics, University Hospital of Navarra, Pamplona, Navarra, Spain.
Virginia
V
García-Solaesa
Salamanca Institute for Biomedical Research (IBSAL), Salamanca, Spain.|Department of Allergy, University Hospital of Salamanca, Salamanca, Spain.|Department of Biomedical Science and Diagnosis, University of Salamanca, Salamanca, Spain.
Ignacio
I
Davila
Salamanca Institute for Biomedical Research (IBSAL), Salamanca, Spain.|Department of Clinical Biochemistry, University Hospital of Salamanca, Salamanca, Spain.|Department of Medicine, University of Salamanca, Salamanca, Spain.
María
M
Isidoro-García
D001249:Asthma / Q000235:genetics*; D018703:Founder Effect; D056726:Genetic Association Studies / Q000379:methods*; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D010641:Phenotype; D012107:Research Design; D018401:Sample Size
Asthma; Candidate genes; GWAS; Next-generation sequencing; Phenotype