RGD Reference Report - IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiency. - Rat Genome Database

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IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiency.

Authors: DeMeo, DL  Campbell, EJ  Barker, AF  Brantly, ML  Eden, E  McElvaney, NG  Rennard, SI  Sandhaus, RA  Stocks, JM  Stoller, JK  Strange, C  Turino, G  Silverman, EK 
Citation: Demeo DL, etal., Am J Respir Cell Mol Biol. 2008 Jan;38(1):114-20. Epub 2007 Aug 9.
RGD ID: 4142510
Pubmed: PMID:17690329   (View Abstract at PubMed)
PMCID: PMC2176135   (View Article at PubMed Central)
DOI: DOI:10.1165/rcmb.2007-0107OC   (Journal Full-text)

Severe alpha(1)-antitrypsin (AAT) deficiency is a proven genetic risk factor for chronic obstructive pulmonary disease (COPD), especially in individuals who smoke. There is marked variability in the development of lung disease in individuals homozygous (PI ZZ) for this autosomal recessive condition, suggesting that modifier genes could be important. We hypothesized that genetic determinants of obstructive lung disease may be modifiers of airflow obstruction in individuals with severe AAT deficiency. To identify modifier genes, we performed family-based association analyses for 10 genes previously associated with asthma and/or COPD, including IL10, TNF, GSTP1, NOS1, NOS3, SERPINA3, SERPINE2, SFTPB, TGFB1, and EPHX1. All analyses were performed in a cohort of 378 PI ZZ individuals from 167 families. Quantitative spirometric phenotypes included forced expiratory volume in one second (FEV(1)) and the ratio of FEV(1)/forced vital capacity (FVC). A qualitative phenotype of moderate-to-severe COPD was defined for individuals with FEV(1)



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
IL10HumanAirway Obstruction susceptibilityIAGP DNA:SNPs (human)RGD 
Il10RatAirway Obstruction susceptibilityISOIL10 (Homo sapiens)DNA:SNPs (human)RGD 
Il10MouseAirway Obstruction susceptibilityISOIL10 (Homo sapiens)DNA:SNPs (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Il10  (interleukin 10)

Genes (Mus musculus)
Il10  (interleukin 10)

Genes (Homo sapiens)
IL10  (interleukin 10)


Additional Information