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Moving beyond genetics: is FAM13A a major biological contributor in lung physiology and chronic lung diseases?

Authors :
Corvol H
Hodges CA
Drumm ML
Guillot L
Source :
Journal of medical genetics [J Med Genet] 2014 Oct; Vol. 51 (10), pp. 646-9. Date of Electronic Publication: 2014 Aug 27.
Publication Year :
2014

Abstract

Variants in FAM13A have been found in genome-wide association studies (GWAS) to associate with lung function in the general population as well as in several common chronic lung diseases (CLD) such as chronic obstructive pulmonary disease (COPD), asthma, as well as in idiopathic interstitial pneumonias (IIP). The gene was cloned in 2004, yet the encoded protein has not been characterised and its function is unknown. The redundancy of its genetic contribution in CLD suggests a major function of this gene both in lung physiology and CLD. This review provides a brief summary of the current knowledge of FAM13A, and demonstrates the necessity to resolve its biological function besides its well accepted genetic contribution. Further interpretations of FAM13A variants may help in the understanding of CLD mechanisms and reveal opportunity for intervention.<br /> (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)

Details

Language :
English
ISSN :
1468-6244
Volume :
51
Issue :
10
Database :
MEDLINE
Journal :
Journal of medical genetics
Publication Type :
Academic Journal
Accession number :
25163686
Full Text :
https://doi.org/10.1136/jmedgenet-2014-102525