SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004096
Disease: Asthma
Asthma
0.300 GeneticVariation disease BEFREE We hypothesized that there might be an association between SERPINA1 gene polymorphisms and the risk of developing wheezing/school age asthma. 31298815 2019
CUI: C0004096
Disease: Asthma
Asthma
0.300 GeneticVariation disease BEFREE The objective of this study was to analyze the distribution of AAT genotypes in asthmatic patients allergic to house dust mites (HDM), and to asses a possible association between these genotypes and severe asthma. 30410723 2018
CUI: C0004096
Disease: Asthma
Asthma
0.300 Biomarker disease RGD Genetic influences on asthma susceptibility in the developing lung. 20118217 2010
CUI: C0004096
Disease: Asthma
Asthma
0.300 Biomarker disease BEFREE The findings of this study provide strong evidence that NOS1 gene with 14-AAT tandem repeats has a significant effect in asthmatic children. 20609134 2010
CUI: C0004096
Disease: Asthma
Asthma
0.300 GeneticVariation disease BEFREE To identify new markers of asthma and COPD to implement in clinical practice, we genotyped for common genetic variants in the cystic fibrosis transmembrane conductance regulator (CFTR), alpha(1)-antitrypsin, and mannose-binding lectin (MBL) genes, and measured baseline fibrinogen and C-reactive protein (CRP) concentrations in up to 9245 adults randomly selected from the Danish general population. 20298391 2009
CUI: C0004096
Disease: Asthma
Asthma
0.300 GeneticVariation disease LHGDN [Alpha 1 antitrypsin polymorphism associated to asthma and emphysema in a central Tunisian population]. 18725338 2008
CUI: C0004096
Disease: Asthma
Asthma
0.300 Biomarker disease BEFREE AAT heterozygoty does not seem to be an important risk factor of persistent airflow limitation in patients with asthma. 16476537 2006
CUI: C0004096
Disease: Asthma
Asthma
0.300 Biomarker disease BEFREE Patients with alpha 1-antitrypsin (AAT) deficiency, like those with asthma and chronic obstructive pulmonary disease, usually present with dyspnea, wheeze, and cough. 9126209 1997
CUI: C0004096
Disease: Asthma
Asthma
0.300 GeneticVariation disease BEFREE We conclude that the occurrence of the M1(ala213) allele of alpha 1-antitrypsin differs in various ethnic groups and may play a role in asthma. 7913005 1994
CUI: C0004096
Disease: Asthma
Asthma
0.300 Biomarker disease BEFREE The binding activities of alpha 1-protease inhibitor and alpha 2-macroglobulin in asthmatic patients with the M phenotype for the alpha 1-protease inhibitor differed in their relationship to the values in control subjects with the same phenotype [less alpha 1-protease inhibitor for asthmatics (35.1 +/- 1.8) than for controls (42.9 +/- 2.0 kU/L) (P < 0.001); more alpha 2-macroglobulin for asthmatics (6.9 +/- 0.3) than for control subjects (5.9 +/- 0.4 kU/L) (P < 0.03)]. 7682483 1993
CUI: C0004096
Disease: Asthma
Asthma
0.300 GeneticVariation disease BEFREE Asthmatic families (AFs) and normal families (NFs) were studied to determine the relationship between bronchial hyperresponsiveness and alpha 1-antitrypsin protease inhibitor phenotype. 2203615 1990
CUI: C0004096
Disease: Asthma
Asthma
0.300 GeneticVariation disease BEFREE Patients with alpha 1-antitrypsin variants also had much shorter smoking histories as compared with the MM group, and all reported histories of asthma in first-degree relatives, as compared with 66% among the MM patients. 2241445 1990