ADRB2, adrenoceptor beta 2, 154

N. diseases: 387; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004096
Disease: Asthma
Asthma
0.500 Biomarker disease HPO
CUI: C0004096
Disease: Asthma
Asthma
0.500 Biomarker disease CTD_human
CUI: C0004096
Disease: Asthma
Asthma
0.500 AlteredExpression disease BEFREE This study evaluates the utility of autopsy lung for studies of gene expression and examines the hypothesis that increased expression of beta 2 AR mRNA in peripheral lung underlies the increased receptor number reported in central airways in fatal asthma. beta 2AR mRNA levels have been quantitated using the ribonuclease protection assay on RNA from peripheral lung obtained both at autopsy and thoracotomy from subjects with normal lungs as well as subjects with asthma or chronic obstructive pulmonary disease (COPD). 7680566 1993
CUI: C0004096
Disease: Asthma
Asthma
0.500 Biomarker disease BEFREE It has long been hypothesized that a defective beta 2-adrenergic receptor (beta 2AR) may be a pathogenic factor in bronchial asthma. 8383511 1993
CUI: C0004096
Disease: Asthma
Asthma
0.500 GeneticVariation disease BEFREE We studied beta 2-adrenoceptor genotype for the Gln/Glu 27 polymorphism and airway reactivity in 65 patients with mild to moderate asthma. 7739309 1995
CUI: C0004096
Disease: Asthma
Asthma
0.500 GeneticVariation disease BEFREE Beta 2 adrenergic receptor gene restriction fragment length polymorphism and bronchial asthma. 7785006 1995
CUI: C0004096
Disease: Asthma
Asthma
0.500 GeneticVariation disease BEFREE Genetic polymorphisms of the beta 2-adrenergic receptor in nocturnal and nonnocturnal asthma. Evidence that Gly16 correlates with the nocturnal phenotype. 7706471 1995
CUI: C0004096
Disease: Asthma
Asthma
0.500 Biomarker disease BEFREE Beta 2-adrenoreceptor agonists and glucocorticosteroids are the two most effective treatments for asthma and are often used in combination. 8834349 1996
CUI: C0004096
Disease: Asthma
Asthma
0.500 Biomarker disease BEFREE Genes encoding for the high affinity IgE receptor, the beta 2-adrenergic receptor, and interleukin-4 have been linked to clinical characteristics of asthma. 9139767 1997
CUI: C0004096
Disease: Asthma
Asthma
0.500 AlteredExpression disease BEFREE We have found preliminary evidence that beta 2-adrenoceptor polymorphism is associated with altered beta 2-adrenoceptor expression in asthma patients. 9329515 1997
CUI: C0004096
Disease: Asthma
Asthma
0.500 GeneticVariation disease BEFREE The beta2-adrenergic receptor (beta2AR) agonists are the most widely used agents in the treatment of asthma, but the genetic determinants of responsiveness to these agents are unknown. 9399966 1997
CUI: C0004096
Disease: Asthma
Asthma
0.500 GeneticVariation disease BEFREE Thus beta2AR polymorphisms act as disease modifiers in asthma and represent one of probably many genetic variables involved in the pathophysiology of asthma. 9351598 1997
CUI: C0004096
Disease: Asthma
Asthma
0.500 Biomarker disease BEFREE This observation suggests therefore that ADRB2 gene can confer genetic susceptibility to BHR, rather than having only a disease-modifying effect in asthma. 9847294 1998
CUI: C0004096
Disease: Asthma
Asthma
0.500 GeneticVariation disease BEFREE Furthermore, allele frequency variation among ethnic groups must be considered in clinical studies of beta2AR polymorphisms in asthma. 9731005 1998
CUI: C0004096
Disease: Asthma
Asthma
0.500 GeneticVariation disease BEFREE To determine if these polymorphisms contribute to the development of asthma by investigating the associations between the polymorphisms at amino acid positions 16 and 27 of the B2AR gene and asthma-related parameters in a large, phenotypically well-characterized population which was unselected for asthma. 10469027 1999
CUI: C0004096
Disease: Asthma
Asthma
0.500 GeneticVariation disease BEFREE These results suggest that beta2AR polymorphisms play an important role in the airway responsiveness to inhaled beta2-agonist and the initial asthma onset. 10524541 1999
CUI: C0004096
Disease: Asthma
Asthma
0.500 GeneticVariation disease BEFREE Importance of beta(2)adrenergic receptor genotype, gender and race on albuterol-evoked bronchodilation in asthmatics. 10873550 2000
CUI: C0004096
Disease: Asthma
Asthma
0.500 Biomarker disease BEFREE This notion is supported by several reports that have implicated the chromosomal region 5q31-q33 harboring the gene for the beta(2)-adrenoreceptor in the genetics of asthma and related phenotypes. 10673187 2000
CUI: C0004096
Disease: Asthma
Asthma
0.500 GeneticVariation disease BEFREE This study demonstrates that the observed linkage to asthma in the 5q23-31 region is unrelated to variation in the beta(2)AR gene. 10934093 2000
CUI: C0004096
Disease: Asthma
Asthma
0.500 GeneticVariation disease BEFREE To date, clinical studies suggest that these beta(2)AR polymorphisms may alter asthmatic phenotype and the response to beta-agonist therapy, making these variants the first of undoubtedly several genetic loci that will ultimately be found that will provide for individualized therapy in asthma. 10669529 2000
CUI: C0004096
Disease: Asthma
Asthma
0.500 GeneticVariation disease BEFREE We conclude that the polymorphisms of amino acids 16 and 27 of the beta2AR gene are not associated with the development of asthma per se, but that the Gly16 polymorphism may play a role in the pathogenesis of asthma severity. 10931116 2000
CUI: C0004096
Disease: Asthma
Asthma
0.500 GeneticVariation disease BEFREE In the United Kingdom, about 40% of patients with asthma are homozygous for the glycine-16 beta(2)-adrenoceptor polymorphism, which predisposes them to agonist-induced down-regulation and desensitization of the beta(2)-adrenoceptor. 10967152 2000
CUI: C0004096
Disease: Asthma
Asthma
0.500 GeneticVariation disease BEFREE We examined whether polymorphisms at codon 16 (beta(2)-AR-16) and codon 27 (beta(2)-AR-27) of the beta(2)-AR might affect the response to regular versus as-needed use of albuterol by genotyping the 190 asthmatics who had participated in a trial examining the effects of regular versus as needed albuterol use. 10903223 2000
CUI: C0004096
Disease: Asthma
Asthma
0.500 Biomarker disease BEFREE In a retrospective analysis of previously published data we have examined relationships between polymorphisms at codons 16 and 27 of the beta(2) adrenoceptor and clinical outcomes in a randomised, placebo controlled, crossover trial of regularly scheduled salbutamol and salmeterol in 115 patients with mild to moderate asthma. 10950895 2000
CUI: C0004096
Disease: Asthma
Asthma
0.500 GeneticVariation disease BEFREE We performed a retrospective analysis of our database (n = 487) of patients with asthma with the aim first, to compare methacholine and AMP challenge as screening tools, and second, to identify any relationships between BHR and disease severity markers or beta(2)-adrenoceptor genotype. 11029338 2000