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

被引：36

作者：

Corvol, Harriet ^{[1
,2
,3
]}

Hodges, Craig A. ^{[4
,5
]}

Drumm, Mitchell L. ^{[4
,5
]}

Guillot, Loic ^{[1
,2
]}

机构：

[1] INSERM, UMR S 938, CDR St Antoine, Bat Kourilsky 2Eme Etage,34 Rue Crozatier, F-75012 Paris, France

[2] Univ Paris 06, UMR S 938, CDR St Antoine, Sorbonne Univ, Paris, France

[3] Hop Trousseau, APHP, F-75571 Paris, France

[4] Case Western Reserve Univ, Dept Pediat, Cleveland, OH 44106 USA

[5] Case Western Reserve Univ, Dept Genet & Genome Sci, Cleveland, OH 44106 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2014年 / 51卷 / 10期

关键词：

GENOME-WIDE ASSOCIATION; OBSTRUCTIVE PULMONARY-DISEASE; EXPRESSION; GENES; COPD; PHENOTYPES; LOCI; VARIANTS; EXPOSURE; IREB2;

D O I：

10.1136/jmedgenet-2014-102525

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：646 / 649

页数：4

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