Source: Annual Congress 2008 - COPD
Disease area: Airway diseases



Rating:

Share or cite this content

Citations should be made in the following way:
S. Ottaviani, E. Russi, O. Senn, M. Imboden, I. Campo, I. Ferrarotti, R. Scabini, M. Zorzetto, M. Luisetti, N. Probst-Hensch, SAPALDIA Team (Pavia, Italy; Zurich, Switzerland). SERPINA1 gene variants in subjects from a general population with reduced alpha1-antitrypsin level. Eur Respir J 2008; 32: Suppl. 52, 4656

Member's Comments

Thierry Rochat - 07.10.2008 16:51
questions
In the last figure, what makes you swaying that not all MS phenotypes have been identified ? Could low level in MM phenotypes be explained by variants in promoter region and/or epigenetic factors ?

Related content which might interest you: Novel genetic variants in alpha-1 antitripsin deficiency cases carrying S alleles and discordant genotype and serum levels Source: International Congress 2015 – Promising novel findings in translational pulmonary research Year: 2015 M2 allele of alpha1-antitrypsin gene and genetic susceptibility to COPD in Korean men Source: Eur Respir J 2005; 26: Suppl. 49, 442s Year: 2005 The allelic frequency for S and Z mutations in the SERPINA1 gene in NSCLC patients from Poland Source: International Congress 2017 – Gene signatures in bronchial diseases Year: 2017 IL-6 gene polymorphisms associated to COPD in a Spanish population Source: Eur Respir J 2006; 28: Suppl. 50, 584s Year: 2006 MRP1 polymorphisms contribute to level and decline of lung function in two general population cohorts Source: Annual Congress 2008 - Genetic risk factors for asthma and COPD Year: 2008 The association between a polymorphism in SPINK5 and asthma phenotypes in a large German population sample Source: Eur Respir J 2003; 22: Suppl. 45, 580s Year: 2003 Two single nucleotide polymorphisms in TSLP gene promoter region are associated with asthma susceptibility in Chinese Han population Source: Annual Congress 2012 - Gene-environment treatment and asthma Year: 2012 Characterization of a population of alpha1-antitrypsin deficient (A1ATD) patients Source: Annual Congress 2008 - COPD Year: 2008 Structural and clinical characterization of novel missense variants of SERPINA1 gene causing alpha-1 antitrypsin deficiency Source: International Congress 2019 – Crosstalk in chronic pulmonary diseases Year: 2019 a1-antitrypsin PI*SZ genotype: a SERPINA1 deficiency haplotype with uncertain clinical and therapeutic implications Source: Eur Respir J, 55 (6) 2000713; 10.1183/13993003.00713-2020 Year: 2020 TNF-alpha and lt-alpha gene polymorphisms and suceptibility to COPD in a Spanish population Source: Annual Congress 2009 - Genetics in the smokers corner: from inflammation in smokers via COPD to cancer Year: 2009 The impact of human Met11Thr single nucleotide polymorphism (SNP) on morphology of SP-D deficient mice Source: Annual Congress 2008 - Pathophysiology of respiratory diseases Year: 2008 Prevalence and phenotype of subjects carrying rare variants in Argentina for alpha1-antitrypsin deficiency Source: International Congress 2017 – Current molecular and genetic understanding of lung diseases Year: 2017 Smoking, genotype and gene expression levels in COPD Source: International Congress 2014 – Personalised exposure and gene environment interactions in chronic airway disease: the exposome and epigenome Year: 2014 Are ADAM33, TNF, LTA, EPHX1 and ADRB2 polymorphisms (SNPs) associated with COPD in a large case-control study when cases and controls are purified? Source: Eur Respir J 2007; 30: Suppl. 51, 131s Year: 2007 Influence of two novel mutations in surfactant protein-c on lung function and disease: resequencing of 760 individuals followed by genotyping of 48,000 individuals from the general population Source: Annual Congress 2009 - Risk factors for COPD Year: 2009 TNF-a and Lt-a gene polymorphisms and suceptibility to COPD in a Spanish population Source: Eur Respir J 2007; 30: Suppl. 51, 131s Year: 2007 Gene variants in IL18R1 and IL18RAP are associated with IgE and 25-hydroxy-D3 levels in asthma families Source: Annual Congress 2008 - Risk factors for childhood asthma and allergy Year: 2008 The polymorphisms of C-reactive protein gene modify the association between central obesity, asthma and lung function in Taiwan Source: Annual Congress 2011 - Respiratory epidemiology: genetics and modifiable risk factors Year: 2011 Gene–gene interaction among polymorphisms of Eotaxin gene family in Korean asthmatics Source: Eur Respir J 2005; 26: Suppl. 49, 263s Year: 2005