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Report for SNP rs324011

Developed by Shray Alag, 2020.
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There is one clinical trial.

Clinical Trials


1 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.

NCT01216215 Collection of Clinical Data That Will be Used in This Study and Will Form a Data Bank for Asthma in Saudi Arabia Identify Known and NOVEL Genetic Risk Factors Contributing to Asthma Susceptibility Study the Mechanistic Roles of the Genetic Variants Within Major Asthma Susceptibility Genes
MeSH: Asthma Disease Susceptibility
HPO: Asthma

IL-4 receptor alpha and STAT6 single nucleotide polymorphisms are associated with increased risk of asthma in a Saudi Arabian population.. IL-4Rα rs1805010 and rs1801275 SNPs have been found to be significantly associated with asthma susceptibility in different ethnic groups; some STAT6 SNPs, including rs324011 and rs324015, have also been associated with asthma predisposition and/or IgE levels.

P<0.001*; dominant model); Similarly, for STAT6 rs324011, odds were significantly higher that homozygous T/T genotype could be associated with asthma.. Inclusion Criteria: 1. Subjects with documented clinical history of asthma for a period of at least 6 months prior to study entry (and a minimum of one clinic follow-up visit since initial diagnosis) 2. Willing to provide written informed consent and in the judgment of the investigator, individuals who are able to understand the informed consent process.

Primary Outcomes

Description: IL-4Rα rs1805010 and rs1801275 SNPs have been found to be significantly associated with asthma susceptibility in different ethnic groups; some STAT6 SNPs, including rs324011 and rs324015, have also been associated with asthma predisposition and/or IgE levels. Risk evaluations of IL-4Rα and STAT6 SNPs in association with asthma have never been evaluated in Saudi Arabian populations. Methods: Saudi Arabian patients with documented history of severe asthma (n=190) and healthy subjects (n=194) were recruited. Allelic and genotype association to asthma was assessed for IL-4Rα and STAT6 polymorphisms using nucleotide sequencing. Results: The IL4Rα rs1801275 SNP A/G-G/G genotypes, but not the A/A genotype, were significantly associated with asthma predisposition (OR=0.47; 95% CI=0.31-0.72; P<0.001*; dominant model); Similarly, for STAT6 rs324011, odds were significantly higher that homozygous T/T genotype could be associated with asthma.

Measure: IL-4 receptor alpha and STAT6 single nucleotide polymorphisms are associated with increased risk of asthma in a Saudi Arabian population.

Time: 2 years


HPO Nodes


Asthma
Genes 138
DNAH9 COL5A2 DNAH11 NFKB2 TDGF1 DDX41 SPAG1 ARMC4 GP1BA GAS2L2 CCDC151 ERCC2 TNF SPINK5 GP1BB GAS1 TGIF1 CCL11 CDON DLL1 CFAP221 PTGER2 TBX21 LRBA RSPH4A CFTR FLG NME8 DNAAF4 ZIC2 SCGB3A2 CCDC65 SDHD ADRB2 TBX1 GP1BB SIX3 IDS NODAL NSUN2 ELOVL4 PEPD CARMIL2 CFAP300 FGF8 GP9 FOXJ1 DNAI1 CASP8 DOCK8 CCDC151 DISP1 IL13 CCNO ALMS1 RSPH1 CCDC39 STK36 MUC7 NOD2 CARD11 CCDC28B DNAL1 DNAH1 ZMYND10 RSPH3 RSPH9 MS4A2 PLA2G7 HNMT DRC1 NKX2-1 SHH COL1A1 CCDC103 SPINK5 FGFR1 DNAAF3 MTOR HIRA LRRC56 LRRC6 GAS8 CFAP298 NEK9 CCDC40 IL4R PGM3 DOCK8 DNAAF2 GLI2 RREB1 TGFB1 PTCH1 GRHL2 SIK3 SCN4A BBS1 TALDO1 DNAAF1 NKX2-1 OFD1 TRAIP PLCG2 HLA-G COL5A1 ALMS1 DNAI2 BCL11B LIG4 GTF2H5 PGM3 ARVCF PEX5 CDSN SEC24C DNAAF6 DNAH5 CCDC114 ADA PLA2G7 JMJD1C DNAJB13 RPGR FOXH1 ALOX5 TTC25 FCGR2A TBX1 COMT COX4I2 UFD1 SPEF2 SUFU DNAAF5 LIFR MCIDAS HYDIN