Collection of Clinical Data That Will be Used in This Study and Will Form a Data Bank for Asthma in Saudi Arabia Clinical Trial
Official title:
Novel Gentic Variations Contributing to Asthma Susceptability in Saudi Arabia
Research Problem Asthma is one of the most common chronic diseases in the world that affects
approximately 300 million individuals worldwide. It is characterized by airway inflammation
and bronchoconstriction leading to airflow obstruction, however, the triggering factors
behind asthma development remains to be elucidated. Genetic risk factors have been suggested
to play a central role in asthma development. Twin studies supported a strong genetic
component to asthma, especially childhood asthma, with heritability estimates suggesting
that 48-70% of asthma risk is attributed to genetic risk factors. Suggestive susceptibility
genes have been identified in European and American populations but not yet in the Middle
East including Saudi Arabia. Identified genes whether they are polymorphic variants of genes
encoding known pathophysiological molecules or novel genes identified by linkage or
genome-wide association studies (GWAS) are inconsistent in different populations thereby
adding to the need to undertake genetic studies on different ethnic populations and in
different countries. Here, the investigators hypothesize that polymorphic variation of novel
susceptibility genes form a major risk factor for asthma development, response to treatment
and progression in the Saudi population with strong diagnostic, prognostic and therapeutic
implications.
Research Significance Since the manifestation of complex inflammatory disorders with strong
heritability is complex involving genetic and environmental interaction, each ethnically
distinct population must be examined to know whether gene-disease association exists in that
population. The objectives of this proposal are to discover novel asthma susceptibility
genes in the Saudi population. A better understanding of the genetic mechanisms of asthma
will enhance our knowledge of its pathophysiology. Asthmatic patients with distinct
genotypes respond differently to asthma medications. Therefore, improvements in diagnostics
and pharmacogenetics may be the first clinical developments of these extensive studies. This
embraces the concept of asthma subphenotypes and stratified medicine where interventions are
targeted at those individuals who will best benefit from them with minimal side effects.
Physicians looking after asthmatic patients will be able to provide better medical service
tailored to those patients, as well as to identify Saudi people at high risk for the
development of asthma, especially the more severe forms of the disease.
Research Objectives The main objective of our proposal is to identify known and novel asthma
susceptibility genes in the Saudi population and to investigate their interaction with
clinical, environmental, and inflammatory factors contributing to asthma pathophysiology.
Research Methodology In this proposal, the investigators will investigate the genetic
factors contributing to asthma susceptibility by determining in Saudi population, the
presence of single nucleotide polymorphisms (SNPs) that have been previously reported from
linkage and GWAS in other populations. Whole genome DNA will also be scanned for novel SNPs
of selected "asthma genes" using microarrays. This will enable us to identify new SNPs that
contribute to the risk of asthma specifically in the Saudi population. In addition, the
investigators will cross-reference all genetic and immunological parameters with the
corresponding clinical data in order to elucidate the impact of certain genes, or their
products (e.g. cytokines), on the clinical manifestation of asthma.
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Observational Model: Cohort, Time Perspective: Prospective