Suggestive association between variants in IL1RAPL and asthma symptoms in Latin American children

European Journal of Human Genetics

Volumn 25, Issue 4, 2017, Pages 439-445

  Marques, Cintia Rodrigues ^a   Costa, Gustavo N O ^a   Da Silva, Thiago Magalhães ^a,b   Oliveira, Pablo ^a,c   Cruz, Alvaro A ^a   Alcantara Neves, Neuza Maria ^a   Fiaccone, Rosemeire L ^a   Horta, Bernardo L ^d   Hartwig, Fernando Pires ^d   Burchard, Esteban G ^e,f   Pino Yanes, Maria ^e,g   Rodrigues, Laura C ^h   Lima Costa, Maria Fernanda ^c   Pereira, Alexandre C ⁱ   Gouveia, Mateus H ^j   Sant Anna, Hanaisa P ^j   Tarazona Santos, Eduardo ^j   Lima Barreto, Maurício ^a,c   Figueiredo, Camila Alexandrina ^a  

^a FEDERAL UNIVERSITY OF BAHIA   (Brazil)

^b UNIVERSIDADE ESTADUAL DO SUDOESTE DA BAHIA   (Brazil)

^c INSTITUTO OSWALDO CRUZ   (Brazil)

^d FEDERAL UNIVERSITY OF PELOTAS   (Brazil)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g HOSPITAL UNIVERSITARIO NUESTRA SEÑORA DE CANDELARIA   (Spain)

^h LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

ⁱ UNIVERSITY OF SÃO PAULO   (Brazil)

^j FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

more..

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN; INTERLEUKIN 13; INTERLEUKIN 5; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NUDT10; UNCLASSIFIED DRUG; IL1RAPL1 PROTEIN, HUMAN; INORGANIC PYROPHOSPHATASE; NUDT10 PROTEIN, HUMAN;

ALLELE; ARTICLE; ASTHMA; CHILD; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; POPULATION GENETIC STRUCTURE; PRESCHOOL CHILD; PRIORITY JOURNAL; QUALITY CONTROL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TH2 CELL; X CHROMOSOME; X CHROMOSOME INACTIVATION; CASE CONTROL STUDY; GENETICS; METABOLISM; SEX DIFFERENCE; SOUTH AND CENTRAL AMERICA;

ASTHMA; CASE-CONTROL STUDIES; CHILD; FEMALE; HUMANS; INTERLEUKIN-1 RECEPTOR ACCESSORY PROTEIN; INTERLEUKIN-13; LATIN AMERICA; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PYROPHOSPHATASES; SEX FACTORS;

EID: 85010876681     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.197     Document Type: Article

References (53)

1. Akdis CA: Allergy and hypersensitivity: mechanisms of allergic disease. Curr Opin Immunol 2006; 18: 718-726.
2. International Union Against Tuberculosis and Lung Disease and The International Study of Asthma and Allergies in Childhood: The global asthma report 2014. Available from http://www.globalasthmareport.org (accessed March 2016).
3. Yazdanbakhsh M, Kremsner PG, Van Ree R: Allergy, parasites, and the hygiene hypothesis. Science 2002; 296: 490-494.
4. Abecasis GR, Auton A, Brooks LD et al: An integrated map of genetic variation from 1,092 human genomes. Nature 2012; 491: 56-65.
5. Pearce N, Ait-Khaled N, Beasley R et al: Worldwide trends in the prevalence of asthma symptoms: phase III of the International Study of Asthma and Allergies in Childhood (ISAAC). Thorax 2007; 62: 758-766.
6. Cooper PJ, Rodrigues LC, Cruz AA, Barreto ML: Asthma in Latin America: a public heath challenge and research opportunity. Allergy 2009; 64: 5-17.
7. Woolcock AJ, Peat JK: Evidence for the increase in asthma worldwide. Ciba Found Symp 1997; 206: 122-134.
8. Upton MN, McConnachie A, McSharry C et al: Intergenerational 20 year trends in the prevalence of asthma and hay fever in adults: the midspan family study surveys of parents and offspring. BMJ 2000; 321: 88-92.
9. Wise AL, Gyi L, Manolio TA: eXclusion: toward integrating the X chromosome in genome-wide association analyses. Am J Hum Genet 2013; 92: 643-647.
10. Ross MT, Grafham DV, Coffey AJ et al: The DNA sequence of the human X chromosome. Nature 2005; 434: 325-337.
11. Bushby KM: Recent adVances in understanding muscular dystrophy. Arch Dis Child 1992; 67: 1310-1312.
12. Mannucci PM, Tuddenham EG: The hemophilias-from royal genes to gene therapy. N Engl J Med 2001; 344: 1773-1779.
13. Wildin RS, Freitas A: IPEX and FOXP3: clinical and research perspectives. J Autoimmun 2005; 25(Suppl): 56-62.
14. Bottema RW, Kerkhof M, Reijmerink NE et al: Gene-gene interaction in regulatory T-cell function in atopy and asthma development in childhood. J Allergy Clin Immunol 2010; 126: 338-346.
15. Du X, Poltorak A, Wei Y, Beutler B: Three novel mammalian toll-like receptors: gene structure, expression, and evolution. Eur Cytokine Netw 2000; 11: 362-371.
16. Carey MA, Card JW, Voltz JW et al: It's all about sex: gender, lung development and lung disease. Trends Endocrinol Metab 2007; 18: 308-313.
17. Postma DS: Gender differences in asthma development and progression. Gend Med 2007; 4: S133-S146.
18. Chu X, Shen M, Xie F et al: An X chromosome-wide association analysis identifies variants in GPR174 as a risk factor for Graves' disease. J Med Genet 2013; 50: 479-485.
19. Chung RH, Ma D, Wang K et al: An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males. Mol Autism 2011; 2: 18.
20. Conde L, Foo JN, Riby J et al: X chromosome-wide association study of follicular lymphoma. Br J Haematol 2013; 162: 858-862.
21. Figueiredo CA, Alcantara-Neves NM, Veiga R et al: Spontaneous cytokine production in children according to biological characteristics and environmental exposures. Environ Health Perspect 2009; 117: 845-849.
22. Rodrigues LC, Newcombe PJ, Cunha SS et al: Early infection with Trichuris trichiura and allergen skin test reactivity in later childhood. Clin Exp Allergy 2008; 38: 1769-1777.
23. Barreto ML, Cunha SS, Alcantara-Neves N et al: Risk factors and immunological pathways for asthma and other allergic diseases in children: background and methodology of a longitudinal study in a large urban center in Northeastern Brazil (Salvador-SCAALA study). BMC Pulm Med 2006; 6: 15.
24. Figueiredo CA, Barreto ML, Rodrigues LC et al: Chronic intestinal helminth infections are associated with immune hyporesponsiveness and induction of a regulatory network. Infect Immun 2010; 78: 3160-3167.
25. Alcantara-Neves NM, Veiga RV, Dattoli VC et al: The effect of single and multiple infections on atopy and wheezing in children. J Allergy Clin Immunol 2012; 129: 359-367.
26. Figueiredo CA, Amorim LD, Alcantara-Neves NM et al: Environmental conditions, immunologic phenotypes, atopy, and asthma: new evidence of how the hygiene hypothesis operates in Latin America. J Allergy Clin Immunol 2013; 131: 1064-1068.
27. Kehdy FS, Gouveia MH, Machado M et al: Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations. Proc Natl Acad Sci USA 2015; 112: 8696-8701.
28. Cooper GM, Stone EA, Asimenos G, Green ED, Batzoglou S, Sidow A: Distribution and intensity of constraint in mammalian genomic sequence. Genome Res 2005; 15: 901-913.
29. ENCODE Project Consortium: An integrated encyclopedia of DNA elements in the human genome. Nature 2012; 489: 57-74.
30. Nishimura KK, Galanter JM, Roth LA et al: Early-life air pollution and asthma risk in minority children. The GALA II and SAGE II studies. Am J Respir Crit Care Med 2013; 188: 309-318.
31. Victora CG, Barros FC: Cohort profile: the 1982 Pelotas (Brazil) birth cohort study. Int J Epidemiol 2006; 35: 237-242.
32. Van Ganse E, Antonicelli L, Zhang Q et al: Asthma-related resource use and cost by GINA classification of severity in three European countries. Respir Med 2006; 100: 140-147.
33. Figueiredo CA, Alcantara-Neves NM, Amorim LD et al: Evidence for a modulatory effect of IL-10 on both Th1 and Th2 cytokine production: the role of the environment. Clin Immunol 2011; 139: 57-64.
34. Salzano FM, Bortolini MC: The Evolution and Genetics of Latin American Populations. New York: Cambridge Univ Press, 2002.
35. Willer CJ, Li Y, Abecasis GR: METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 2010; 26: 2190-2191.
36. Fuchsberger C, Abecasis GR, Hinds DA: minimac2: faster genotype imputation. Bioinformatics 2014; 31: 782-784.
37. Howie B, Fuchsberger C, Stephens M, Marchini J, Abecasis GR: Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet 2012; 44: 955-959.
38. Liu JZ, McRae AF, Nyholt DR et al: A versatile gene-based test for genome-wide association studies. Am J Hum Genet 2010; 87: 139-145.
39. de Leeuw CA, Mooij JM, Heskes T, Posthuma D: MAGMA: generalized gene-set analysis of GWAS data. PLoS Comput Biol 2015; 11: e1004219.
40. Barnes PJ: Th2 cytokines and asthma: an introduction. Respir Res 2001; 2: 64-65.
41. Dunne A, O'Neill LA: The interleukin-1 receptor/Toll-like receptor superfamily: signal transduction during inflammation and host defense. Sci STKE 2003; 2003: re3.
42. Moffatt MF, Gut IG, Demenais F et al: A large-scale, consortium-based genomewide association study of asthma. N Engl J Med 2010; 363: 1211-1221.
43. Costa GN, Dudbridge F, Fiaccone RL et al: A genome-wide association study of asthma symptoms in Latin American children. BMC Genet 2015; 16: 141.
44. Born TL, Smith DE, Garka KE, Renshaw BR, Bertles JS, Sims JE: Identification and characterization of two members of a novel class of the interleukin-1 receptor (IL-1R) family. Delineation of a new class of IL-1R-related proteins based on signaling. J Biol Chem 2000; 275: 29946-29954.
45. Lima-Costa MF, Rodrigues LC, Barreto ML et al: Genomic ancestry and ethnoracial selfclassification based on 5,871 community-dwelling Brazilians (The Epigen Initiative). Sci Rep 2015; 5: 9812.
46. Shears SB, Gokhale NA, Wang H, Zaremba A: Diphosphoinositol polyphosphates: what are the mechanisms? Adv Enzyme Regul 2011; 51: 13-25.
47. Barker CJ, Illies C, Gaboardi GC, Berggren PO: Inositol pyrophosphates: structure, enzymology and function. Cell Mol Life Sci 2009; 66: 3851-3871.
48. Burton A, Hu X, Saiardi A: Are inositol pyrophosphates signalling molecules? J Cell Physiol 2009; 220: 8-15.
49. Hua LV, Hidaka K, Pesesse X, Barnes LD, Shears SB: Paralogous murine Nudt10 and Nudt11 genes have differential expression patterns but encode identical proteins that are physiologically competent diphosphoinositol polyphosphate phosphohydrolases. Biochem J 2003; 373: 81-89.
50. Pesesse X, Choi K, Zhang T, Shears SB: Signaling by higher inositol polyphosphates. Synthesis of bisdiphosphoinositol tetrakisphosphate ('InsP8') is selectively activated by hyperosmotic stress. J Biol Chem 2004; 279: 43378-43381.
51. Song Y, Jayaraman S, Yang B, Matthay MA, Verkman AS: Role of aquaporin water channels in airway fluid transport, humidification, and surface liquid hydration. J Gen Physiol 2001; 117: 573-582.
52. Neuhofer W: Role of NFAT5 in inflammatory disorders associated with osmotic stress. Curr Genomics 2010; 11: 584-590.
53. Dobyns WB, Filauro A, Tomson BN et al: Inheritance of most X-linked traits is not dominant or recessive, just X-linked. Am J Med Genet A 2004; 129A: 136-143.