rs2070600, AGER

N. diseases: 82
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Forced expiratory volume function
CUI: C0016529
Disease: Forced expiratory volume function
0.800 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
0.800 GeneticVariation GWASDB Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291 2012
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.760 GeneticVariation GWASCAT Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. 30804561 2019
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.760 GeneticVariation BEFREE The rs2070600 SNP may be associated with the development of human autoimmune disease, diabetes complications, cancer, and lung diseases such as chronic obstructive pulmonary disease and acute respiratory distress syndrome. 30863465 2019
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.760 GeneticVariation BEFREE COPDGene studies have revealed that some of the COPD genome-wide association study polymorphisms are strongly associated with blood biomarkers (e.g., rs2070600 in <i>AGER</i> is a pQTL [protein quantitative trait locus] for sRAGE), underscoring the importance of combining omics results. 30874442 2019
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.760 GeneticVariation BEFREE Haplotype analysis revealed that haplotype T-A-G-T (allele order: rs1800625, rs1800624, rs2070600, rs184003) was significantly associated with a reduced COPD risk (OR=0.32, 95% CI: 0.06-0.60), and haplotype T-A-A-G was significantly associated with a reduced asthma risk (OR=0.19, 95% CI: 0.04-0.96). 31141790 2019
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.760 GeneticVariation GWASCAT Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. 28166215 2017
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.760 GeneticVariation BEFREE The SNP (rs3995090) in HTR4 was associated with COPD (adjusted P = 0.022) in never-smokers, and the SNP (rs2070600) in AGER was associated with forced expiratory volume in 1 s (FEV1 %) predicted (β = -0.066, adjusted P = 0.016) and FEV1 /forced vital capacity (β = -0.071, adjusted P = 0.009) in all subjects. 24286382 2014
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.760 GeneticVariation BEFREE Our study demonstrated that the frequencies of the GS genotype and the S allele in the G82S mutation were significantly higher in COPD patients than in controls (odds ratios [OR]=1.70, 95% confidence interval [CI]: 1.15-2.50, p=0.0098 and OR=1.42, 95% CI: 1.06-1.91, p=0.023, respectively). 24520905 2014
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.760 GeneticVariation BEFREE We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12). 22461431 2012
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.710 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.710 GeneticVariation GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.710 GeneticVariation BEFREE To investigate whether RAGE Gly82-->Ser polymorphism is associated with CV events in RA, we examined CV events, CV risk factors, features of RA and RAGE Gly82-->Ser polymorphism in 232 patients with RA attending a tertiary referral hospital. 17425804 2007
Vital capacity
CUI: C0042834
Disease: Vital capacity
0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
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
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
Respiratory Function Tests
CUI: C0035227
Disease: Respiratory Function Tests
0.700 GeneticVariation GWASCAT Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291 2012
Respiratory Function Tests
CUI: C0035227
Disease: Respiratory Function Tests
0.700 GeneticVariation GWASCAT Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. 20010835 2010
Respiratory Function Tests
CUI: C0035227
Disease: Respiratory Function Tests
0.700 GeneticVariation GWASCAT Genome-wide association study identifies five loci associated with lung function. 20010834 2010
Pulmonary function
CUI: C0231921
Disease: Pulmonary function
0.700 GeneticVariation GWASDB Genome-wide association study identifies five loci associated with lung function. 20010834 2010
Pulmonary function
CUI: C0231921
Disease: Pulmonary function
0.700 GeneticVariation GWASDB Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. 20010835 2010
Pulmonary function (finding)
CUI: C3160731
Disease: Pulmonary function (finding)
0.700 GeneticVariation GWASDB Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. 20010835 2010
Pulmonary function (finding)
CUI: C3160731
Disease: Pulmonary function (finding)
0.700 GeneticVariation GWASDB Genome-wide association study identifies five loci associated with lung function. 20010834 2010
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE We aimed to investigate the roles of RAGE, AGEs and the Gly82Ser polymorphism of RAGE in mild cognitive impairment (MCI) among type 2 diabetes patients. 26745632 2016
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE The current meta-analysis suggests that the RAGE Gly82Ser polymorphism is associated with an increased risk of CAD and IS, especially in the Chinese population. 27930580 2016