Genomics of Treatable Traits in Asthma

被引：4

作者：

Espuela-Ortiz, Antonio ^{[1
]}

Martin-Gonzalez, Elena ^{[1
]}

Poza-Guedes, Paloma ^{[2
,3
]}

Gonzalez-Perez, Ruperto ^{[2
,3
]}

Herrera-Luis, Esther ^{[4
]}

机构：

[1] Univ La Laguna ULL, Dept Biochem Microbiol Cell Biol & Genet, Genom & Hlth Grp, Tenerife 38200, Spain

[2] Hosp Univ Canarias, Allergy Dept, Tenerife 38320, Spain

[3] Hosp Univ Canarias, Severe Asthma Unit, Tenerife 38320, Spain

[4] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD 21205 USA

来源：

GENES | 2023年 / 14卷 / 09期

关键词：

asthma; GWAS; genomics; precision medicine; asthma phenotype; endotype; EXACERBATED RESPIRATORY-DISEASE; ADULT-ONSET ASTHMA; INFLAMMATORY CHARACTERISTICS; AIRWAY HYPERRESPONSIVENESS; CLUSTER-ANALYSIS; LUNG-FUNCTION; TNF-ALPHA; PHENOTYPES; IDENTIFICATION; NASAL;

D O I：

10.3390/genes14091824

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The astounding number of genetic variants revealed in the 15 years of genome-wide association studies of asthma has not kept pace with the goals of translational genomics. Moving asthma diagnosis from a nonspecific umbrella term to specific phenotypes/endotypes and related traits may provide insights into features that may be prevented or alleviated by therapeutical intervention. This review provides an overview of the different asthma endotypes and phenotypes and the genomic findings from asthma studies using patient stratification strategies and asthma-related traits. Asthma genomic research for treatable traits has uncovered novel and previously reported asthma loci, primarily through studies in Europeans. Novel genomic findings for asthma phenotypes and related traits may arise from multi-trait and specific phenotyping strategies in diverse populations.

引用

页数：25

共 139 条

[71] Genome-wide association study identifies TH1 pathway genes associated with lung function in asthmatic patients [J].

Li, Xingnan ;

Hawkins, Gregory A. ;

Ampleford, Elizabeth J. ;

Moore, Wendy C. ;

Li, Huashi ;

Hastie, Annette T. ;

Howard, Timothy D. ;

Boushey, Homer A. ;

Busse, William W. ;

Calhoun, William J. ;

Castro, Mario ;

Erzurum, Serpil C. ;

Israel, Elliot ;

Lemanske, Robert F., Jr. ;

Szefler, Stanley J. ;

Wasserman, Stephen I. ;

Wenzel, Sally E. ;

Peters, Stephen P. ;

Meyers, Deborah A. ;

Bleecker, Eugene R. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2013, 132 (02) :313-+

[72] Asthma and Allergic Inflammation [J].

Locksley, Richard M. .

CELL, 2010, 140 (06) :777-783

[73] Validated and longitudinally stable asthma phenotypes based on cluster analysis of the ADEPT study [J].

Loza, Matthew J. ;

Djukanovic, Ratko ;

Chung, Kian Fan ;

Horowitz, Daniel ;

Ma, Keying ;

Branigan, Patrick ;

Barnathan, Elliot S. ;

Susulic, Vedrana S. ;

Silkoff, Philip E. ;

Sterk, Peter J. ;

Baribaud, Frederic .

RESPIRATORY RESEARCH, 2016, 17

[74] Clinical use of current polygenic risk scores may exacerbate health disparities [J].

Martin, Alicia R. ;

Kanai, Masahiro ;

Kamatani, Yoichiro ;

Okada, Yukinori ;

Neale, Benjamin M. ;

Daly, Mark J. .

NATURE GENETICS, 2019, 51 (04) :584-591

[75] Childhood Asthma Inception and Progression Role of Microbial Exposures, Susceptibility to Viruses and Early Allergic Sensitization [J].

Martinez, Fernando D. .

IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA, 2019, 39 (02) :141-+

[76] A century of asthma [J].

McFadden, ER .

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2004, 170 (03) :215-221

[77] GREAT improves functional interpretation of cis-regulatory regions [J].

McLean, Cory Y. ;

Bristor, Dave ;

Hiller, Michael ;

Clarke, Shoa L. ;

Schaar, Bruce T. ;

Lowe, Craig B. ;

Wenger, Aaron M. ;

Bejerano, Gill .

NATURE BIOTECHNOLOGY, 2010, 28 (05) :495-U155

[78] Changes in urinary LTE4 and nasal functions following nasal provocation test with ASA in ASA-tolerant and -intolerant asthmatics [J].

Micheletto, Claudio ;

Tognella, Silvia ;

Visconti, Marilia ;

Trevisan, Fiorenza ;

Dal Negro, Roberto W. .

RESPIRATORY MEDICINE, 2006, 100 (12) :2144-2150

[79] Identification of a plasma miRNA biomarker signature for allergic asthma: A translational approach [J].

Milger, K. ;

Goetschke, J. ;

Krause, L. ;

Nathan, P. ;

Alessandrini, F. ;

Tufman, A. ;

Fischer, R. ;

Bartel, S. ;

Theis, F. J. ;

Behr, J. ;

Dehmel, S. ;

Mueller, N. S. ;

Kneidinger, N. ;

Krauss-Etschmann, S. .

ALLERGY, 2017, 72 (12) :1962-1971

[80] The GWAS Diversity Monitor tracks diversity by disease in real time [J].

Mills, Melinda C. ;

Rahal, Charles .

NATURE GENETICS, 2020, 52 (03) :242-243

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