rs1800888, ADRB2

N. diseases: 23
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
peak expiratory flow (procedure)
CUI: C1518922
Disease: peak expiratory flow (procedure)
0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
Forced expiratory volume function
CUI: C0016529
Disease: Forced expiratory volume function
0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
Forced expiratory volume function
CUI: C0016529
Disease: Forced expiratory volume function
0.700 GeneticVariation GWASCAT Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. 28166213 2017
Asthma
CUI: C0004096
Disease: Asthma
0.060 GeneticVariation BEFREE The present meta-analysis demonstrated that C79G and C491T polymorphism may be a defensive factor for asthma, while A46G polymorphism may be a risk factor for asthma among the Caucasian population. 31115019 2019
Asthma
CUI: C0004096
Disease: Asthma
0.060 GeneticVariation BEFREE In south Indian population, the ADRB2 Thr164Ile polymorphism may not form susceptible variant to develop asthma, however, it can form a predictive maker for bronchodilator (Salbutamol) response in severe asthmatics. 27450915 2016
Asthma
CUI: C0004096
Disease: Asthma
0.060 GeneticVariation BEFREE Identification of Small Molecule as a High Affinity β2 Agonist Promiscuously Targeting Wild and Mutated (Thr164Ile) β 2 Adrenergic Receptor in the Treatment of Bronchial Asthma. 27174812 2016
Asthma
CUI: C0004096
Disease: Asthma
0.060 GeneticVariation BEFREE One of the variants was a highly functional nonsynonymous variant in ADRB2 (rs1800888), which was also nominally associated with asthma (p = 0.027) and active asthma (p = 0.013) among European Americans with severe RSV bronchiolitis without including the ESP. 26587832 2015
Asthma
CUI: C0004096
Disease: Asthma
0.060 GeneticVariation BEFREE We tested the hypothesis that three functional polymorphisms in the ADRB2 gene (Thr164Ile, Gly16Arg and Gln27Glu) are associated with reduced lung function, asthma or chronic obstructive pulmonary disease (COPD). 22075484 2012
Asthma
CUI: C0004096
Disease: Asthma
0.060 GeneticVariation BEFREE The less common Thr164Ile polymorphism (rs1800888, Ile allele frequency 1.5%) was not a major predictor of either frequency or prognosis of asthma. 16935688 2006
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
0.040 GeneticVariation BEFREE Single nucleotide polymorphisms (SNPs) within the β(1)- (Ser49Gly, Arg389Gly) and β(2)-adrenoceptor (Arg16Gly, Gln27Glu, Thr164Ile) have been associated with alterations in adrenoceptor (AR) function sensitivity in vitro and in vivo and possibly contribute to HF progression. 20803192 2010
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
0.040 GeneticVariation BEFREE Beta-2 adrenergic receptor gene polymorphisms Gln27Glu, Arg16Gly and Thr164Ile were suggested to have an effect in heart failure. 19886995 2009
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
0.040 GeneticVariation BEFREE The prevalence of the hypofunctional Thr164Ile</span>-beta(2)AR variant and the frequency of the Ile164-allele were almost identical in CHF-patients, who had undergone HTX, with those in patients with stable CHF or in healthy controls. 16783489 2006
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
0.040 GeneticVariation BEFREE Of particular importance, the Thr164Ile polymorphism, which is found in approximately 4% of humans, shows decreased receptor signaling, blunted cardiac response when expressed in transgenic mice, and is associated with a decreased survival rate in patients with congestive heart failure. 11222464 2001
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.030 GeneticVariation BEFREE Eighty-two patients with COPD and 17 healthy smokers were recruited and screened for ADRb2 (T164I and R175R), for CHRM2 (rs1824024) and for CHRM3 (-513C/A and -492C/T). 26633752 2016
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.030 GeneticVariation BEFREE Finally, we found that the rare Thr164Ile polymorphism in ADRB2 was associated with reduced lung function and risk of COPD, whereas the more common Gly16Arg and Gln27Glu were not. 25186548 2014
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.030 GeneticVariation BEFREE Our results suggest tha</span>t ADRB2 Thr164</span>Ile is associated with reduced lung function and increased risk of COPD in the general population. 22075484 2012
Heart failure
CUI: C0018801
Disease: Heart failure
0.020 GeneticVariation BEFREE Single nucleotide polymorphisms (SNPs) within the β(1)- (Ser49Gly, Arg389Gly) and β(2)-adrenoceptor (Arg16Gly, Gln27Glu, Thr164Ile) have been associated with alterations in adrenoceptor (AR) function sensitivity in vitro and in vivo and possibly contribute to HF progression. 20803192 2010
Heart failure
CUI: C0018801
Disease: Heart failure
0.020 GeneticVariation BEFREE Beta-2 adrenergic receptor gene polymorphisms Gln27Glu, Arg16Gly and Thr164Ile were suggested to have an effect in heart failure. 19886995 2009
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.010 GeneticVariation BEFREE No other significant associations were observed between ADRB1 (rs1801252, rs1801253), ADRB2 (rs1042713, rs1800888) polymorphisms and cardiovascular events or all-cause mortality in CAD patients. 30668166 2019
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
0.010 GeneticVariation BEFREE One of the variants was a highly functional nonsynonymous variant in ADRB2 (rs1800888), which was also nominally associated with asthma (p = 0.027) and active asthma (p = 0.013) among European Americans with severe RSV bronchiolitis without including the ESP. 26587832 2015
Bronchiolitis
CUI: C0006271
Disease: Bronchiolitis
0.010 GeneticVariation BEFREE One of the variants was a highly functional nonsynonymous variant in ADRB2 (rs1800888), which was also nominally associated with asthma (p = 0.027) and active asthma (p = 0.013) among European Americans with severe RSV bronchiolitis without including the ESP. 26587832 2015
Childhood asthma
CUI: C0264408
Disease: Childhood asthma
0.010 GeneticVariation BEFREE Four ADRB2 single nucleotide polymorphisms (rs1042711, rs1042713, rs1042714 and rs1800888) were genotyped in 953 children from the prospective birth cohort 'Environment and Childhood Asthma' study and analysed for association with flow-volume parameters at birth (tidal breathing) and at 10 years of age (maximally forced), stratified by environmental exposures. 23463918 2013
Myocardial Ischemia
CUI: C0151744
Disease: Myocardial Ischemia
0.010 GeneticVariation BEFREE ADRB2 Thr164Ile is associated with increased blood pressure, increased frequency of hypertension and increased risk of IHD amongst women in the general population. 21883537 2012
Diabetes
CUI: C0011847
Disease: Diabetes
0.010 GeneticVariation BEFREE We tested the hypothesis that the ADRB2rs1800888(Thr164Ile) polymorphism associates with risk of obesity and diabetes and compared effect sizes with those of FTO(rs9939609), MC4R(rs17782313), and TMEM18(rs6548238). 22466342 2012
Obesity
CUI: C0028754
Disease: Obesity
0.010 GeneticVariation BEFREE Our results suggest that ADRB2rs1800888(Thr164Ile) rare vs. common homozygotes are not significantly associated with an increase in BMI measured continuously but may be associated with an increased risk of obesity. 22466342 2012