Genome-wide association study of lung function decline in adults with and without asthma

被引：88

作者：

Imboden, Medea ^{[1
,2
]}

Bouzigon, Emmanuelle ^{[3
,4
,5
]}

Curjuric, Ivan ^{[1
,2
]}

Ramasamy, Adaikalavan ^{[7
]}

Kumar, Ashish ^{[1
,2
,8
]}

Hancock, Dana B. ^{[9
,10
]}

Wilk, Jemma B. ^{[11
]}

Vonk, Judith M. ^{[13
]}

Thun, Gian A. ^{[1
,2
]}

Siroux, Valerie ^{[14
,15
]}

Nadif, Rachel ^{[16
,17
]}

Monier, Florent ^{[3
,4
,5
]}

Gonzalez, Juan R. ^{[18
,19
]}

Wjst, Matthias ^{[20
]}

Heinrich, Joachim ^{[20
]}

Loehr, Laura R. ^{[21
]}

Franceschini, Nora ^{[21
]}

North, Kari E. ^{[22
]}

Altmueller, Janine ^{[23
]}

Koppelman, Gerard H. ^{[13
]}

Guerra, Stefano ^{[18
,19
,24
,29
]}

Kronenberg, Florian ^{[25
]}

Lathrop, Mark ^{[4
,26
]}

Moffatt, Miriam F. ^{[6
]}

O'Connor, George T. ^{[12
,27
]}

Strachan, David P. ^{[28
]}

Postma, Dirkje S. ^{[13
]}

London, Stephanie J. ^{[9
]}

Schindler, Christian ^{[1
,2
]}

Kogevinas, Manolis ^{[18
,19
,29
,30
]}

Kauffmann, Francine ^{[16
,17
]}

Jarvis, Debbie L. ^{[7
]}

Demenais, Florence ^{[3
,4
,5
]}

Probst-Hensch, Nicole M. ^{[1
,2
]}

机构：

[1] Swiss Trop & Publ Hlth Inst, Basel, Switzerland

[2] Univ Basel, CH-4003 Basel, Switzerland

[3] INSERM, UMRS 946, Paris, France

[4] Fdn Jean Dausset, CEPH, Paris, France

[5] Univ Paris 07, Inst Univ Hematol, Paris, France

[6] Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, London SW7 2AZ, England

[7] MRC HPA Ctr Environm & Hlth, London, England

[8] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX1 2JD, England

[9] NIEHS, Epidemiol Branch, Div Intramural Res, NIH,Dept Hlth & Human Serv, Res Triangle Pk, NC 27709 USA

[10] Res Triangle Inst Int, Behav Hlth Epidemiol Program, Res Triangle Pk, NC USA

[11] Boston Univ, Sch Med, Dept Neurol, Boston, MA 02118 USA

[12] Boston Univ, Sch Med, Dept Med, Ctr Pulm, Boston, MA 02118 USA

[13] Univ Groningen, Univ Med Ctr Groningen, Dept Pulmonol Pediat Pulmonol & Pediat Allergol, Beatrix Childrens Hosp,Groningen Res Inst Asthma, NL-9700 AB Groningen, Netherlands

[14] INSERM, U823, Team Environm Epidemiol Appl Reprod & Resp Hlth, Grenoble, France

[15] Univ Grenoble 1, Grenoble, France

[16] CESP Ctr Res Epidemiol & Populat Hlth, INSERM, U1018, Resp & Environm Epidemiol Team, Villejuif, France

[17] Univ Paris 11, UMRS 1018, Villejuif, France

[18] Ctr Res Environm Epidemiol, Barcelona, Spain

[19] CIBER Epidemiol & Salud Publ, Barcelona, Spain

[20] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Epidemiol, Neuherberg, Germany

[21] Univ N Carolina Chapel Hill, UNC Gillings Sch Global Publ Hlth, Dept Epidemiol, Chapel Hill, NC USA

[22] Univ N Carolina Chapel Hill, Carolina Ctr Genome Sci, Chapel Hill, NC USA

[23] Univ Cologne, CCG, Cologne, Germany

[24] Univ Arizona, Arizona Resp Ctr, Tucson, AZ USA

[25] Innsbruck Med Univ, Div Genet Epidemiol, Dept Med Genet Mol & Clin Pharmacol, Innsbruck, Austria

[26] Commissariat Energie Atom, Inst Genom, Ctr Natl Genotypage, Evry, France

[27] NHLBI, Framingham Heart Study, Framingham, MA USA

[28] Univ London, Div Populat Hlth Sci & Educ, London WC1E 7HU, England

[29] IMIM Municipal Inst Med Res, Barcelona, Spain

[30] Natl Sch Publ Hlth, Athens, Greece

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2012年 / 129卷 / 05期

基金：

美国国家卫生研究院;

关键词：

Asthma; cohort studies; genome-wide association; lung function decline; heterogeneity; S-TRANSFERASE M1; PULMONARY-FUNCTION; LARGE-SCALE; CANDIDATE GENE; POLYMORPHISMS; LOCI; PHENOTYPES; VARIANTS; HYPERRESPONSIVENESS; ENVIRONMENT;

D O I：

10.1016/j.jaci.2012.01.074

中图分类号：

R392 [医学免疫学];

学科分类号：

100108 [医学免疫学];

摘要：

Background: Genome-wide association studies have identified determinants of chronic obstructive pulmonary disease, asthma, and lung function level; however, none have addressed decline in lung function. Objective: We conducted the first genome-wide association study on the age-related decrease in FEV1 and its ratio to forced vital capacity (FVC) stratified a priori by asthma status. Methods: Discovery cohorts included adults of European ancestry (1,441 asthmatic and 2,677 nonasthmatic participants: the Epidemiological Study on the Genetics and Environment of Asthma, the Swiss Cohort Study on Air Pollution and Lung and Heart Disease in Adults, and the European Community Respiratory Health Survey). The associations of FEV1 and FEV1/FVC ratio decrease with 2.5 million single nucleotide polymorphisms (SNPs) were estimated. Thirty loci were followed up by in silico replication (1,160 asthmatic and 10,858 nonasthmatic participants: Atherosclerosis Risk in Communities, the Framingham Heart Study, the British 1958 Birth Cohort, and the Dutch Asthma Study). Results: Main signals identified differed between asthmatic and nonasthmatic participants. None of the SNPs reached genome-wide significance. The association between the height-related gene DLEU7 and FEV1 decrease suggested for nonasthmatic participants in the discovery phase was replicated (discovery, P = 4.8 x 10(-6); replication, P = .03), and additional sensitivity analyses point to a relation to growth. The top ranking signal, TUSC3, which is associated with FEV1/FVC ratio decrease in asthmatic participants (P = 5.3 x 10(-8)), did not replicate. SNPs previously associated with cross-sectional lung function were not prominently associated with decline. Conclusions: Genetic heterogeneity of lung function might be extensive. Our results suggest that genetic determinants of longitudinal and cross-sectional lung function differ and vary by asthma status. (J Allergy Clin Immunol 2012;129:1218-28.)

引用

页码：1218 / 1228

页数：11

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