SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: Chronic Obstructive Airway Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE Genetic variants other than in α-1 antitrypsin increase the risk of COPD. 24621683 2014
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE The determination of this genetic deficiency prevalence in Madeira Island (Portugal) population is important to clarify susceptibility and define the relevance of performing genetic tests for AAT on individuals at risk for COPD. 19450958 2009
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE Mutation in the 3' region of the alpha-1-antitrypsin gene and chronic obstructive pulmonary disease. 9350828 1997
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE The objective of the present screening was to estimate the AAT gene frequency and prevalence and to identify AAT deficiency cases in a large cohort of Lithuanian patients with COPD. 18722101 2008
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		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
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		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
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease LHGDN Association of the PIM3 allele of the alpha-1-antitrypsin gene with chronic obstructive pulmonary disease. 15820782 2005
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		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
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE Ten years ago a search was initiated for DNA variation in the alpha-1-antitrypsin gene (alpha 1-AT) to determine whether there were mutations more commonly associated with patients who had chronic obstructive airways disease (COAD) than with healthy individuals. 7952657 1994
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE The risk of COPD was marginally elevated for the genetic markers, MS and MZ, in the alpha(1)-antitrypsin gene [summary odds ratio: MS, 1.2 (1.0-1.4) and MZ, 2.3 (1.6-3.4)], whereas the SZ marker was an important risk factor of COPD [summary odds ratio: 3.3 (1.2-8.6)]. 20298391 2009
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE The presence of the alpha(1)-antitrypsin MZ genotype may in certain circumstances produce marked aggravation of airway obstruction in individuals prone to develop COPD. 11148177 2001
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE In this paper we report DNA sequence heterogeneity of the AAT gene region among 137 patients with COPD and 130 healthy control subjects. 1969347 1990
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		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
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE Independent mutations in the flanking sequence of the alpha-1-antitrypsin gene are associated with chronic obstructive airways disease. 1980238 1991
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE In many countries, the protease inhibitor (SERPINA1) PI*S allele is more common than PI*Z, the allele responsible for most cases of chronic obstructive pulmonary disease (COPD) due to severe alpha 1-antitrypsin deficiency. 15994391 2005
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE The characterization of a mutation of the 3' flanking sequence of the alpha 1-antitrypsin gene commonly associated with chronic obstructive airways disease. 1349285 1992
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE Costs and health-related quality of life in Alpha-1-Antitrypsin Deficient COPD patients. 28416015 2017
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE Alpha-1-antitrypsin (AAT) deficiency results from mutations on the Protease Inhibitor (PI) locus located in chromosome 14 and has been associated with pulmonary early-onset emphysema and chronic obstructive pulmonary disease (COPD). 20226649 2010
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE Whether the heterozygous PiMZ genotype for alpha-1 antitrypsin confers increased risk for COPD has been debated. 28380308 2017
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE We previously reported that a mutation in a 3' enhancer region of the alpha1-antitrypsin (AAT) gene is associated with chronic obstructive airways disease (COAD). 9434101 1997
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE Association of the PIM3 allele of the alpha-1-antitrypsin gene with chronic obstructive pulmonary disease. 15820782 2005
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE Variations in SERPINA1 and ELA2 were not consistently or strongly associated with the risk of either COPD or NSCLC in either race. 22993338 2012
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE α-1-antitrypsin variants and the proteinase/antiproteinase imbalance in chronic obstructive pulmonary disease. 25416382 2015
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		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
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		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