Functional variant in the autophagy-related 5 gene promotor is associated with childhood asthma

PLoS ONE

Volumn 7, Issue 4, 2012, Pages

  Martin, Lisa J ^a   Gupta, Jayanta ^a   Jyothula, Soma S S K ^b   Kovacic, Melinda ^a   Myers, Jocelyn M ^a   Patterson, Tia L ^a   Ericksen, Mark B ^a   He, Hua ^a   Gibson, Aaron M ^a   Baye, Tesfaye M ^a   Amirisetty, Sushil ^a   Tsoras, Anna M ^a   Sha, Youbao ^b   Eissa, N Tony ^b   Hershey, Gurjit K Khurana ^a  

^a UNIVERSITY OF CINCINNATI   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; ATG5 PROTEIN, HUMAN; ATG7 PROTEIN, HUMAN; FIREFLY LUCIFERASE; MICROTUBULE ASSOCIATED PROTEIN; RENILLA LUCIFERIN 2 MONOOXYGENASE; UBIQUITIN PROTEIN LIGASE;

ADOLESCENT; ALLELE; ARTICLE; ASTHMA; AUTOPHAGY RELATED 5 GENE; CHILD; CHILDHOOD ASTHMA; CHILDHOOD DISEASE; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE MAP; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR CLONING; NOSE MUCOSA; PRESCHOOL CHILD; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; BIOSYNTHESIS; CASE CONTROL STUDY; CELL STRAIN HEK293; DNA SEQUENCE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC TRANSCRIPTION; GENETICS; HAPLOTYPE; METABOLISM; PATHOLOGY; PROMOTER REGION; REPORTER GENE;

ADOLESCENT; ASTHMA; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; GENES, REPORTER; GENETIC ASSOCIATION STUDIES; HAPLOTYPES; HEK293 CELLS; HUMANS; LINKAGE DISEQUILIBRIUM; LUCIFERASES, FIREFLY; LUCIFERASES, RENILLA; MALE; MICROTUBULE-ASSOCIATED PROTEINS; NASAL MUCOSA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION, GENETIC; UBIQUITIN-ACTIVATING ENZYMES;

EID: 84859951546     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0033454     Document Type: Article

References (38)

1. Zhang J, Pare PD, Sandford AJ, (2008) Recent advances in asthma genetics. Respir Res 9: 4.
2. Eder W, Ege MJ, von Mutius E, (2006) The asthma epidemic. N Engl J Med 355: 2226-2235.
3. Bloom B, Cohen R, Freeman G, (2010) Summary Health Statisitcs for U.S. Children: National Health Interview Survey, 2009. In: Statistics NCfH, editors. Hyattsville: Vital Health Stat pp. 1-91.
4. Litonjua AA, Carey VJ, Burge HA, Weiss ST, Gold DR, (1998) Parental history and the risk for childhood asthma. Does mother confer more risk than father? Am J Respir Crit Care Med 158: 176-181.
5. Willis-Owen SA, Valdar W, (2009) Deciphering gene-environment interactions through mouse models of allergic asthma. J Allergy Clin Immunol 123: 14-23; quiz 24-15.
6. Hussey S, Travassos LH, Jones NL, (2009) Autophagy as an emerging dimension to adaptive and innate immunity. Semin Immunol 21: 233-241.
7. Miller BC, Zhao Z, Stephenson LM, Cadwell K, Pua HH, et al. (2008) The autophagy gene ATG5 plays an essential role in B lymphocyte development. Autophagy 4: 309-314.
8. Lee HK, Mattei LM, Steinberg BE, Alberts P, Lee YH, et al. (2010) In vivo requirement for Atg5 in antigen presentation by dendritic cells. Immunity 32: 227-239.
9. Jounai N, Takeshita F, Kobiyama K, Sawano A, Miyawaki A, et al. (2007) The Atg5 Atg12 conjugate associates with innate antiviral immune responses. Proc Natl Acad Sci U S A 104: 14050-14055.
10. Chen ZH, Kim HP, Sciurba FC, Lee SJ, Feghali-Bostwick C, et al. (2008) Egr-1 regulates autophagy in cigarette smoke-induced chronic obstructive pulmonary disease. PLoS One 3: e3316.
11. Ryter SW, Lam HC, Chen ZH, Choi AM, (2011) Deadly triplex: Smoke, autophagy, and apoptosis. Autophagy 7.
12. Inoue D, Kubo H, Taguchi K, Suzuki T, Komatsu M, et al. (2011) Inducible disruption of autophagy in the lung causes airway hyper-responsiveness. Biochem Biophys Res Commun 405: 13-18.
13. Baye TM, Butsch Kovacic M, Biagini Myers JM, Martin LJ, Lindsey M, et al. (2011) Differences in candidate gene association between European ancestry and African American asthmatic children. PLoS One 6: e16522.
14. Butsch Kovacic M, Biagini Myers JM, Wang N, Martin LJ, Lindsey M, et al. (2011) A novel selection approach identifies six candidate epithelial genes for childhood asthma including KIF3A. PLoS One In press.
15. American Thoracic Society (1987) Standards for the diagnosis and care of patients with chronic obstructive pulmonary disease (COPD) and asthma. This official statement of the American Thoracic Society was adopted by the ATS Board of Directors, November 1986. Am Rev Respir Dis 136: 225-244.
16. Woo D, Sauerbeck LR, Kissela BM, Khoury JC, Szaflarski JP, et al. (2002) Genetic and environmental risk factors for intracerebral hemorrhage: preliminary results of a population-based study. Stroke 33: 1190-1195.
17. de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, et al. (2005) Efficiency and power in genetic association studies. Nat Genet 37: 1217-1223.
18. Guajardo JR, Schleifer KW, Daines MO, Ruddy RM, Aronow BJ, et al. (2005) Altered gene expression profiles in nasal respiratory epithelium reflect stable versus acute childhood asthma. J Allergy Clin Immunol 115: 243-251.
19. Kay AB, (2001) Allergy and allergic diseases. First of two parts. N Engl J Med 344: 30-37.
20. Kay AB, (2001) Allergy and allergic diseases. Second of two parts. N Engl J Med 344: 109-113.
21. Gaga M, Lambrou P, Papageorgiou N, Koulouris NG, Kosmas E, et al. (2000) Eosinophils are a feature of upper and lower airway pathology in non-atopic asthma, irrespective of the presence of rhinitis. Clin Exp Allergy 30: 663-669.
22. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38: 904-909.
23. Nothnagel M, Ellinghaus D, Schreiber S, Krawczak M, Franke A, (2009) A comprehensive evaluation of SNP genotype imputation. Hum Genet 125: 163-171.
24. Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, et al. (2008) Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet 40: 161-169.
25. Willer CJ, Li Y, Abecasis GR, (2010) METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26: 2190-2191.
26. Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, et al. (2009) Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A 106: 9362-9367.
27. Yuan HY, Chiou JJ, Tseng WH, Liu CH, Liu CK, et al. (2006) FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. Nucleic Acids Res 34: W635-641.
28. Togias A, Naclerio RM, Proud D, Pipkorn U, Bascom R, et al. (1988) Studies on the allergic and nonallergic nasal inflammation. J Allergy Clin Immunol 81: 782-790.
29. Naclerio RM, Baroody F, (1998) Understanding the inflammatory processes in upper allergic airway disease and asthma. J Allergy Clin Immunol 101: S345-351.
30. Braunstahl GJ, Overbeek SE, Kleinjan A, Prins JB, Hoogsteden HC, et al. (2001) Nasal allergen provocation induces adhesion molecule expression and tissue eosinophilia in upper and lower airways. J Allergy Clin Immunol 107: 469-476.
31. Braunstahl GJ, Overbeek SE, Fokkens WJ, Kleinjan A, McEuen AR, et al. (2001) Segmental bronchoprovocation in allergic rhinitis patients affects mast cell and basophil numbers in nasal and bronchial mucosa. Am J Respir Crit Care Med 164: 858-865.
32. Chen ZH, Lam HC, Jin Y, Kim HP, Cao J, et al. (2010) Autophagy protein microtubule-associated protein 1 light chain-3B (LC3B) activates extrinsic apoptosis during cigarette smoke-induced emphysema. Proc Natl Acad Sci U S A.
33. Guevin C, Manna D, Belanger C, Konan KV, Mak P, et al. (2010) Autophagy protein ATG5 interacts transiently with the hepatitis C virus RNA polymerase (NS5B) early during infection. Virology 405: 1-7.
34. Orvedahl A, MacPherson S, Sumpter R Jr, Talloczy Z, Zou Z, et al. (2010) Autophagy protects against Sindbis virus infection of the central nervous system. Cell Host Microbe 7: 115-127.
35. Yousefi S, Perozzo R, Schmid I, Ziemiecki A, Schaffner T, et al. (2006) Calpain-mediated cleavage of Atg5 switches autophagy to apoptosis. Nat Cell Biol 8: 1124-1132.
36. Lee N, Chan PK, Hui DS, Rainer TH, Wong E, et al. (2009) Viral loads and duration of viral shedding in adult patients hospitalized with influenza. J Infect Dis 200: 492-500.
37. Poon A, Litonjua AA, Laprise C, (2011) Relevance and implication of genetic determinants to asthma pathophysiology. Curr Opin Allergy Clin Immunol 11: 407-413.
38. Binia A, Khorasani N, Bhavsar PK, Adcock I, Brightling CE, et al. (2011) Chromosome 17q21 SNP and severe asthma. J Hum Genet 56: 97-98.