Document Detail


Genetic Variation in the Scavenger Receptor MARCO and Its Association with Chronic Obstructive Pulmonary Disease and Lung Infection in 10,604 Individuals.
MedLine Citation:
PMID:  23154236     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Background: MARCO (macrophage receptor with collagenous structure) is a dominant receptor for unopsonized particles and bacteria in the lungs. Reduced function of this receptor due to genetic variation may be associated with susceptibility to chronic obstructive pulmonary disease (COPD) and lung infection. Objectives: To identify novel genetic variants in MARCO that are associated with reduced lung function, or increased risk of COPD or lung infection. Methods: We first screened 760 individuals with extreme lung phenotypes in a large general population study to identify novel variants in the MARCO gene. We next genotyped the entire cohort consisting of 10,604 individuals to assess the clinical relevance of these variants. Results: We identified 4 novel (R124H, K201N, P303L and G340W) and 5 previously described (H101Q, F282S, G319V, K387Q and E511D) non-synonymous variants. When screening the entire cohort for these variants, we found low minor allele frequencies ranging from 0.005 to 5%. None of the individual MARCO genotypes were associated with reduced lung function, or risk of COPD or lung infection. H101Q heterozygotes had an increased odds ratio for sepsis of 2.2 (95% CI: 1.1-4.4) compared to non-carriers, but none of the other MARCO genotypes were associated with the risk of sepsis. Conclusions: We identified 9 non-synonymous variants in the MARCO gene and showed that these variants are not major risk factors for COPD or lung infection in the Danish population. H101Q heterozygotes had increased sepsis risk, but further research is required to confirm this finding. This study is the first to examine genetic variants in MARCO and the risk of COPD and infections in humans.
Authors:
Mette Thomsen; Børge G Nordestgaard; Lester Kobzik; Morten Dahl
Related Documents :
14671616 - Frequency and spectrum of hemochromatosis mutations in tunisia.
23979356 - A biochemical analysis linking apobec3a to disparate hiv-1 restriction and skin cancer.
10925986 - Histological evaluation of iron in liver biopsies: relationship to hfe mutations.
3275606 - Identification of a repressor gene involved in the regulation of nad de novo biosynthes...
12208746 - Mdr1 gene polymorphisms affect therapy outcome in acute myeloid leukemia patients.
9677056 - Linkage disequilibrium of common gaucher disease mutations with a polymorphic site in t...
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-15
Journal Detail:
Title:  Respiration; international review of thoracic diseases     Volume:  -     ISSN:  1423-0356     ISO Abbreviation:  Respiration     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0137356     Medline TA:  Respiration     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 S. Karger AG, Basel.
Affiliation:
Department of Clinical Biochemistry, Herlev Hospital, Copenhagen, Denmark.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Direct Thrombin Inhibitors-A Case Indicating Benefit From 'Plasmapheresis' in Toxicity: A Call for ...
Next Document:  Neuroimmunomodulatory Alterations in Non-Lesional Peritoneum Close to Peritoneal Endometriosis.