A variant of the myosin light chain kinase gene is associated with severe asthma in African Americans

Genetic Epidemiology

Volumn 31, Issue 4, 2007, Pages 296-305

  Flores, Carlos ^a   Ma, Shwu Fan ^a   Maresso, Karen ^a   Ober, Carole ^a   Garcia, Joe G N ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

Cytoskeleton; Endothelium; MLCK; Population stratification; SNP

Indexed keywords

ENZYME VARIANT; ISOPROTEIN; MUTANT PROTEIN; MYOSIN LIGHT CHAIN KINASE; PROLINE; SERINE;

AFRICAN AMERICAN; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; ASTHMA; CONFIDENCE INTERVAL; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; EUROPEAN AMERICAN; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC EPIDEMIOLOGY; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; MYLK GENE; SINGLE NUCLEOTIDE POLYMORPHISM; VASCULAR ENDOTHELIUM;

AFRICAN AMERICANS; ASTHMA; CASE-CONTROL STUDIES; CHICAGO; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MICROSATELLITE REPEATS; MYOSIN-LIGHT-CHAIN KINASE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 34247348118     PISSN: 07410395     EISSN: 10982272     Source Type: Journal    
DOI: 10.1002/gepi.20210     Document Type: Article

References (62)

1. Ahmadi KR, Weale ME, Xue ZY, Soranzo N, Yarnall DP, Briley JD, Maruyama Y, et al. 2005. A single-nucleotide polymorphism tagging set for human drug metabolism and transport. Nat Genet 37:84-89.
2. Amundadottir LT, Sulem P, Gudmundsson J, Helgason A, Baker A, Agnarsson BA, Sigurdsson A, et al. 2006. A common variant associated with prostate cancer in European and African populations. Nat Genet 38:652-658.
3. Barrett JC, Fry B, Maller J, Daly MJ. 2005. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265.
4. Benayoun L, Druilhe A, Dombret MC, Aubier M, Pretolani M. 2003. Airway structural alterations selectively associated with severe asthma. Am J Respir Crit Care Med 167:1360-1368.
5. Blumenthal MN, Langefeld CD, Beaty TH, Bleecker ER, Ober C, Lester L, Lange E, et al. 2004. A genome-wide search for allergic response (atopy) genes in three ethnic groups: Collaborative Study on the Genetics of Asthma. Hum Genet 114:157-164.
6. Brasch-Andersen C, Haagerup A, Borglum AD, Vestbo J, Kruse TA. 2006. Highly significant linkage to chromosome 3q13.31 for rhinitis and related allergic diseases. J Med Genet 43:e10.
7. Browning SR. 2006. Multilocus association mapping using variable-length Markov chains. Am J Hum Genet 78:903-913.
8. Chouchane L, Sfar I, Bousaffara R, El Kamel A, Sfar MT, Ismail A. 1999. A repeat polymorphism in interleukin-4 gene is highly associated with specific clinical phenotypes of asthma. Int Arch Allergy Immunol 120:50-55.
9. CSGA. 1997. A genome-wide search for asthma susceptibility loci in ethnically diverse populations. The Collaborative Study on the Genetics of Asthma (CSGA). Nat Genet 15:389-392.
10. Contopoulos-Ioannidis DG, Manoli EN, Ioannidis JP. 2005. Meta-analysis of the association of beta2-adrenergic receptor polymorphisms with asthma phenotypes. J Allergy Clin Immunol 115:963-972.
11. Destro-Bisol G, Maviglia R, Caglia A, Boschi I, Spedini G, Pascali V, Clark A, Tishkoff S. 1999. Estimating European admixture in African Americans by using microsatellites and a microsatellite haplotype (CD4/Alu). Hum Genet 104:149-157.
12. Dizier MH, Besse-Schmittler C, Guilloud-Bataille M, Annesi-Maesano I, Boussaha M, Bousquet J, Charpin D, et al. 2000. Genome screen for asthma and related phenotypes in the French EGEA study. Am J Respir Crit Care Med 162:1812-1818.
13. El-Ekiaby A, Brianas L, Skowronski ME, Coreno AJ, Galan G, Kaeberlein FJ, Seitz RE, et al. 2006. Impact of race on the severity of acute episodes of asthma and adrenergic responsiveness. Am J Respir Crit Care Med 174:508-513.
14. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, et al. 2002. The structure of haplotype blocks in the human genome. Science 296:2225-2229.
15. Gao L, Grant A, Halder I, Brower R, Sevransky J, Maloney JP, Moss M, et al. 2006. Novel polymorphisms in the myosin light chain kinase gene confer risk for acute lung injury. Am J Respir Cell Mol Biol 34:487-495.
16. Garcia JG, Davis HW, Patterson CE. 1995. Regulation of endothelial cell gap formation and barrier dysfunction: role of myosin light chain phosphorylation. J Cell Physiol 163:510-522.
17. Garcia JG, Lazar V, Gilbert-McClain LI, Gallagher PJ, Verin AD. 1997a. Myosin light chain kinase in endothelium: molecular cloning and regulation. Am J Respir Cell Mol Biol 16:489-494.
18. Garcia JG, Schaphorst KL, Shi S, Verin AD, Hart CM, Callahan KS, Patterson CE. 1997b. Mechanisms of ionomycin-induced endothelial cell barrier dysfunction. Am J Physiol Lung Cell Mol Physiol 273:L172-L184.
19. Garcia JG, Verin AD, Herenyiova M, English D. 1998. Adherent neutrophils activate endothelial myosin light chain kinase: role in transendothelial migration. J Appl Physiol 84:1817-1821.
20. Haagerup A, Bjerke T, Schiotz PO, Binderup HG, Dahl R, Kruse TA. 2002. Asthma and atopy - a total genome scan for susceptibility genes. Allergy 57:680-686.
21. Haagerup A, Borglum AD, Binderup HG, Kruse TA. 2004. Fine-scale mapping of type I allergy candidate loci suggests central susceptibility genes on chromosomes 3q, 4q and Xp. Allergy 59:88-94.
22. Harlan JM, Winn RK. 2002. Leukocyte-endothelial interactions: clinical trials of anti-adhesion therapy. Crit Care Med 30:S214-S219.
23. Holgate ST, Polosa R. 2006. The mechanisms, diagnosis, and management of severe asthma in adults. Lancet 368:780-793.
24. Hoshino M, Nakamura Y, Hamid QA. 2001. Gene expression of vascular endothelial growth factor and its receptors and angiogenesis in bronchial asthma. J Allergy Clin Immunol 107:1034-1038.
25. Jeffery PK. 2001. Remodeling in asthma and chronic obstructive lung disease. Am J Respir Crit Care Med 164:S28-S38.
26. Kalayci O, Birben E, Sackesen C, Keskin O, Tahan F, Wechsler ME, Civelek E, et al. 2006. ALOX5 promoter genotype, asthma severity and LTC production by eosinophils. Allergy 61:97-103.
27. Kedda MA, Duffy DL, Bradley B, O'Hehir RE, Thompson PJ. 2006. ADAM33 haplotypes are associated with asthma in a large Australian population. Eur J Hum Genet 14:1027-1036.
28. Koppelman GH, Reijmerink NE, Colin Stine O, Howard TD, Whittaker PA, Meyers DA, Postma DS, Bleecker ER. 2001. Association of a promoter polymorphism of the CD14 gene and atopy. Am J Respir Crit Care Med 163:965-969.
29. Koppelman GH, Stine OC, Xu J, Howard TD, Zheng SL, Kauffman HF, Bleecker ER, et al. 2002. Genome-wide search for atopy susceptibility genes in Dutch families with asthma. J Allergy Clin Immunol 109:498-506.
30. Krasnowska M, Nittner-Marszalska M, Krasnowski R, Kopec W. 2002. Endothelin, endothelial cells and von Willebrand factor in peripheral blood of asthmatic patients. Pol Merkur Lekarski 12:445-448.
31. Kurz T, Altmueller J, Strauch K, Ruschendorf F, Heinzmann A, Moffatt MF, Cookson WO, et al. 2005. A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3. Allergy 60: 192-199.
32. Lazar V, Garcia JG. 1999. A single human myosin light chain kinase gene (MLCK; MYLK). Genomics 57:256-267.
33. Lee KS, Park SJ, Kim SR, Min KH, Jin SM, Puri KD, Lee YC. 2006. Phosphoinositide 3-kinase-delta inhibitor reduces vascular permeability in a murine model of asthma. J Allergy Clin Immunol 118:403-409.
34. Lee SY, Lee YH, Shin C, Shim JJ, Kang KH, Yoo SH, In KH. 2002. Association of asthma severity and bronchial hyperresponsiveness with a polymorphism in the cytotoxic T-lymphocyte antigen-4 gene. Chest 122:171-176.
35. Lee YA, Wahn U, Kehrt R, Tarani L, Businco L, Gustafsson D, Andersson F, et al. 2000. A major susceptibility locus for atopic dermatitis maps to chromosome 3q21. Nat Genet 26:470-473.
36. Lester LA, Rich SS, Blumenthal MN, Togias A, Murphy S, Malveaux F, Miller ME, et al. 2001. Ethnic differences in asthma and associated phenotypes: collaborative study on the genetics of asthma. J Allergy Clin Immunol 108:357-362.
37. Lind JM, Hutcheson-Dilks HB, Williams SM, Moore JH, Essex M, Ruiz-Pesini E, Wallace DC, et al. 2007. Elevated male European and female African contributions to the genomes of African American individuals. Hum Genet 120:713-722.
38. Lukacs NW, John A, Berlin A, Bullard DC, Knibbs R, Stoolman LM. 2002. E- and P-selectins are essential for the development of cockroach allergen-induced airway responses. J Immunol 169:2120-2125.
39. Mannino DM, Homa DM, Akinbami LJ, Moorman JE, Gwynn C, Redd SC. 2002. Surveillance for asthma-United States, 1980-1999. MMWR Surveill Summ 51:1-13.
40. McDonald DM. 2001. Angiogenesis and remodeling of airway vasculature in chronic inflammation. Am J Respir Crit Care Med 164:S39-S45.
41. Miller-Larsson A, Selroos O. 2006. Advances in asthma and COPD treatment: combination therapy with inhaled corticosteroids and long-acting beta 2-agonists. Curr Pharm Des 12:3261-3279.
42. Moore WC, Peters SP. 2006. Severe asthma: an overview. J Allergy Clin Immunol 117:487-495.
43. Nakashima K, Hirota T, Suzuki Y, Akahoshi M, Shimizu M, Jodo A, Doi S, et al. 2006. Association of the RIP2 gene with childhood atopic asthma. Allergol Int 55:77-83.
44. Nyholt DR. 2004. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet 74:765-769.
45. Ober C, Hoffjan S. 2006. Asthma genetics 2006: the long and winding road to gene discovery. Genes Immun 7:95-100.
46. Ober C, Leavitt SA, Tsalenko A, Howard TD, Hoki DM, Daniel R, Newman DL, et al. 2000. Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. Am J Hum Genet 66:517-526.
47. Orsida BE, Li X, Hickey B, Thien F, Wilson JW, Walters EH. 1999. Vascularity in asthmatic airways: relation to inhaled steroid dose. Thorax 54:289-295.
48. Pillai SG, Chiano MN, White NJ, Speer M, Barnes KC, Carlsen K, Gerritsen J, et al. 2006. A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p. Eur J Hum Genet 14:307-316.
49. Pritchard JK, Stephens M, Donnelly P. 2000. Inference of population structure using multilocus genotype data. Genetics 155:945-959.
50. Pulleyn LJ, Newton R, Adcock IM, Barnes PJ. 2001. TGFbeta1 allele association with asthma severity. Hum Genet 109:623-627.
51. Randolph AG, Lange C, Silverman EK, Lazarus R, Silverman ES, Raby B, Brown A, et al. 2004. The IL12B gene is associated with asthma. Am J Hum Genet 75:709-715.
52. Reumers J, Schymkowitz J, Ferkinghoff-Borg J, Stricher F, Serrano L, Rousseau F. 2005. SNPeffect: a database mapping molecular phenotypic effects of human non-synonymous coding SNPs. Nucleic Acids Res 33:D527-D532.
53. Sawyer SL, Mukherjee N, Pakstis AJ, Feuk L, Kidd JR, Brookes AJ, Kidd KK. 2005. Linkage disequilibrium patterns vary substantially among populations. Eur J Hum Genet 13:677-686.
54. Smith MW, Patterson N, Lautenberger JA, Truelove AL, McDonald GJ, Waliszewska A, Kessing BD, et al. 2004. A high-density admixture map for disease gene discovery in african americans. Am J Hum Genet 74:1001-1013.
55. Stephens M, Donnelly P. 2003. A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73:1162-1169.
56. Stephens M, Smith NJ, Donnelly P. 2001. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989.
57. The ENFUMOSA Study Group. 2003. The ENFUMOSA cross-sectional European multicentre study of the clinical phenotype of chronic severe asthma. European Network for Understanding Mechanisms of Severe Asthma. Eur Respir J 22:470-477.
58. The International HapMap Consortium. 2005. A haplotype map of the human genome. Nature 437:1299-1320.
59. Wainwright MS, Rossi J, Schavocky J, Crawford S, Steinhorn D, Velentza AV, Zasadzki M, et al. 2003. Protein kinase involved in lung injury susceptibility: evidence from enzyme isoform genetic knockout and in vivo inhibitor treatment. Proc Natl Acad Sci USA 100:6233-6238.
60. Weale ME, Depondt C, Macdonald SJ, Smith A, Lai PS, Shorvon SD, Wood NW, Goldstein DB. 2003. Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping. Am J Hum Genet 73:551-565.
61. Weiss S. 1996. Issues in phenotype assessment. In: Liggett SB, Meyers DA, editors. The Genetics of Asthma. New York: MArcel Dekker, Inc., p 401-419.
62. Wills-Karp M, Ewart SL. 2004. Time to draw breath: asthma-susceptibility genes are identified. Nat Rev Genet 5:376-387.