Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 AlteredExpression disease BEFREE Indeed, decreased α1-antitrypsin levels in BEAS-2B cells suggest that exposure to PS-MPs increases the risk for chronic obstructive pulmonary disease, and high concentrations of PS-MPs can induce these adverse responses. 31727530 2020
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 AlteredExpression disease BEFREE COPD subjects with higher serum alpha-1 antitrypsin levels were associated with a worse systemic inflammation status and higher 10-year mortality. 31849461 2019
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 Biomarker disease BEFREE Blood monocyte profiles in COPD patients with PiMM and PiZZ α1-antitrypsin. 30827477 2019
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 Biomarker disease BEFREE Efficacy and safety of inhaled α1-antitrypsin in patients with severe α1-antitrypsin deficiency and frequent exacerbations of COPD. 31467115 2019
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 AlteredExpression disease BEFREE Its severe form is characterized by very low serum levels of AAT, and it most often affects the lungs (causing early-onset emphysema or chronic obstructive lung disease (COPD)) and/or liver (leading to jaundice and liver cirrhosis in children and adults). 30929319 2019
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 GeneticVariation disease BEFREE In combination with smoking or other long-term noxious exposures such as occupational dust and fumes, genetic A1AT deficiency can cause chronic obstructive pulmonary disease, a condition with elevated cardiovascular risk. 29432934 2018
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 GeneticVariation disease BEFREE While the most common is AAT deficiency, a genetic disorder associated with chronic obstructive pulmonary disease, additional disorders associated with AAT abnormalities are increasingly recognised. 29592975 2018
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 GeneticVariation disease BEFREE SERPINA1 Hepatocyte-Specific Promoter Polymorphism Associate with Chronic Obstructive Pulmonary Disease in a Study of Kashmiri Ancestry Individuals. 29804144 2018
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 GeneticVariation disease BEFREE We aimed to explore the associations of rs9944155AG, rs1051052AG, and rs1243166AG polymorphisms in the Alpha-1-AT gene with the risk of COPD in Uygur population in the Kashgar region. 29521291 2018
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 Biomarker disease BEFREE Alpha 1-antitrypsin deficiency (AATD) is a genetic disorder which reduces serum alpha 1-antitrypsin (AAT or alpha1-proteinase inhibitor, A1PI) and increases the risk of chronic obstructive pulmonary disease (COPD). 29616482 2018
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 Biomarker disease BEFREE Alpha-1 antitrypsin (AAT) deficiency is associated with an increased risk of chronic obstructive pulmonary disease and has been related to CD4 T-cell count decline in people living with HIV (PLWH). 30160349 2018
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 Biomarker disease BEFREE Beside the well-known proteinase inhibitory function, which protects the lungs from chronic obstructive pulmonary disease (COPD), many studies have shown that AAT inhibits pro-inflammatory cytokine gene expression and functions. 30194599 2018
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 GeneticVariation disease BEFREE WGS in severe COPD identifies a large number of potentially important functional variants, with the strongest associations being in known COPD risk loci, including HHIP and SERPINA1. 29949718 2018
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 AlteredExpression disease BEFREE The objectives of this study were to assess the frequency and determinants of testing serum α1-antitrypsin (AAT) levels in COPD patients, and to describe factors associated with testing. 29953442 2018
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 GeneticVariation disease BEFREE Costs and health-related quality of life in Alpha-1-Antitrypsin Deficient COPD patients. 28416015 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 GeneticVariation disease BEFREE Whether the heterozygous PiMZ genotype for alpha-1 antitrypsin confers increased risk for COPD has been debated. 28380308 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 Biomarker disease BEFREE In a large genetic association analysis, we identified associations with severe COPD near PPIC and SERPINA1. 28170284 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 GeneticVariation disease BEFREE The prevalence of PI*S and PI*Z SERPINA1 alleles in healthy individuals and COPD patients in Saudi Arabia: A case-control study. 29049242 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 Biomarker disease BEFREE Alpha-1 antitrypsin (AAT) functions primarily to inhibit neutrophil elastase, and its deficiency predisposes individuals to the development of chronic obstructive pulmonary disease (COPD). 28769553 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 GeneticVariation disease BEFREE To determine the prevalence of alpha 1-antitrypsin (AAT) deficiency (AATD), as well as allele frequency, in COPD patients in Brazil. 27812629 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 AlteredExpression disease BEFREE This extract induced severe oxidative stress that increased DNA damage and the production of proinflammatory cytokines by BEAS-2B cells as well as decreased α1-antitrypsin expression, suggesting a mechanism that increases the risk of COPD. 27614859 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 Biomarker disease BEFREE Urine samples from 19 clinically stable COPD cases (7 PiMM and 12 PiZZ A1AT) were analyzed by capillary electrophoresis coupled to mass spectrometry. 28331304 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 AlteredExpression disease BEFREE Testing for AATD should be part of the reflex testing that follows any COPD diagnosis or unexplained liver disease and can be performed by determining the AAT phenotype or genotype along with serum AAT levels. 28929906 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 Biomarker disease BEFREE Treatment of A1ATD-associated lung disease includes standard therapies that are also used for the treatment of COPD, in addition to the use of augmentation therapy (that is, infusions of human plasma-derived, purified α1-antitrypsin). 27465791 2016
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.500 Biomarker disease BEFREE The loss of anti-inflammatory and antiproteolytic functions, together with pro-inflammatory effects of polymerized AAT contribute to protein degradation and increased inflammation resulting in an increased risk of developing chronic obstructive pulmonary disease (COPD) and emphysema, especially in smokers. 26341117 2016