Recent advances in asthma genetics

Respiratory Research

Volumn 9, Issue , 2008, Pages

  Zhang, Jian ^a   Paré, Peter D ^a   Sandford, Andrew J ^a  

^a ST PAUL S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN; IL17F PROTEIN, HUMAN; INTERLEUKIN 13; INTERLEUKIN 17; INTERMEDIATE FILAMENT PROTEIN; LEUKOTRIENE D4 RECEPTOR; LEUKOTRIENE RECEPTOR; MEMBRANE PROTEIN; ORMDL3 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ASTHMA; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HUMAN; PATHOPHYSIOLOGY; PHENOTYPE; REVIEW; RISK FACTOR;

ASTHMA; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTERLEUKIN-13; INTERLEUKIN-17; INTERMEDIATE FILAMENT PROTEINS; MEMBRANE PROTEINS; PHENOTYPE; POLYMORPHISM, GENETIC; RECEPTORS, LEUKOTRIENE; RISK FACTORS;

EID: 39749151308     PISSN: 14659921     EISSN: 1465993X     Source Type: Journal    
DOI: 10.1186/1465-9921-9-4     Document Type: Review

References (80)

1. Asher MI, Keil U, Anderson HR, Beasley R, Crane J, Martinez F, Mitchell EA, Pearce N, Sibbald B, Stewart AW, et al. International Study of Asthma and Allergies in Childhood (ISAAC): rationale and methods. Eur Respir J 1995, 8:483-491. 10.1183/09031936.95.08030483, 7789502.
2. Beasley R. The burden of asthma with specific reference to the United States. J Allergy Clin Immunol 2002, 109:S482-9. 10.1067/mai.2002.122716, 11994720.
3. Duffy DL, Martin NG, Battistutta D, Hopper JL, Mathews JD. Genetics of asthma and hay fever in Australian twins. Am Rev Respir Dis 1990, 142:1351-1358.
4. Nieminen MM, Kaprio J, Koskenvuo M. A population-based study of bronchial asthma in adult twin pairs. Chest 1991, 100:70-75. 10.1378/chest.100.1.70, 2060393.
5. Hopp RJ, Bewtra AK, Watt GD, Nair NM, Townley RG. Genetic analysis of allergic disease in twins. J Allergy Clin Immunol 1984, 73:265-270. 10.1016/S0091-6749(84)80018-4, 6538209.
6. Dixon AL, Liang L, Moffatt MF, Chen W, Heath S, Wong KC, Taylor J, Burnett E, Gut I, Farrall M, Lathrop GM, Abecasis GR, Cookson WO. A genome-wide association study of global gene expression. Nat Genet 2007, 39:1202-1207. 10.1038/ng2109, 17873877.
7. Hoffjan S, Ober C. Present status on the genetic studies of asthma. Curr Opin Immunol 2002, 14:709-717. 10.1016/S0952-7915(02)00393-X, 12413520.
8. Kere J, Laitinen T. Positionally cloned susceptibility genes in allergy and asthma. Curr Opin Immunol 2004, 16:689-694. 10.1016/j.coi.2004.09.011, 15511659.
9. Hoffjan S, Nicolae D, Ober C. Association studies for asthma and atopic diseases: a comprehensive review of the literature. Respir Res 2003, 4:14. Print 2003..
10. Ober C, Hoffjan S. Asthma genetics 2006: the long and winding road to gene discovery. Genes Immun 2006, 7:95-100. 10.1038/sj.gene.6364284, 16395390.
11. Lu C, Tej SS, Luo S, Haudenschild CD, Meyers BC, Green PJ. Elucidation of the small RNA component of the transcriptome. Science 2005, 309:1567-1569. 10.1126/science.1114112, 16141074.
12. Mattick JS. The functional genomics of noncoding RNA. Science 2005, 309:1527-1528. 10.1126/science.1117806, 16141063.
13. Chen Q, Book M, Fang X, Hoeft A, Stuber F. Screening of copy number polymorphisms in human beta-defensin genes using modified real-time quantitative PCR. J Immunol Methods 2006, 308:231-240. 10.1016/j.jim.2005.11.001, 16380128.
14. Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, Nibbs RJ, Freedman BI, Quinones MP, Bamshad MJ, Murthy KK, Rovin BH, Bradley W, Clark RA, Anderson SA, O'Connell R J, Agan BK, Ahuja SS, Bologna R, Sen L, Dolan MJ, Ahuja SK. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 2005, 307:1434-1440. 10.1126/science.1101160, 15637236.
15. Aitman TJ, Dong R, Vyse TJ, Norsworthy PJ, Johnson MD, Smith J, Mangion J, Roberton-Lowe C, Marshall AJ, Petretto E, Hodges MD, Bhangal G, Patel SG, Sheehan-Rooney K, Duda M, Cook PR, Evans DJ, Domin J, Flint J, Boyle JJ, Pusey CD, Cook HT. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 2006, 439:851-855. 10.1038/nature04489, 16482158.
16. Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L, Heward JM, Gough SC, de Smith A, Blakemore AI, Froguel P, Owen CJ, Pearce SH, Teixeira L, Guillevin L, Graham DS, Pusey CD, Cook HT, Vyse TJ, Aitman TJ. FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet 2007, 39:721-723. 10.1038/ng2046, 17529978.
17. Yang Y, Chung EK, Wu YL, Savelli SL, Nagaraja HN, Zhou B, Hebert M, Jones KN, Shu Y, Kitzmiller K, Blanchong CA, McBride KL, Higgins GC, Rennebohm RM, Rice RR, Hackshaw KV, Roubey RA, Grossman JM, Tsao BP, Birmingham DJ, Rovin BH, Hebert LA, Yu CY. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Am J Hum Genet 2007, 80:1037-1054. 1867093, 17503323, 10.1086/518257.
18. Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, O'Regan GM, Watson RM, Cecil JE, Bale SJ, Compton JG, DiGiovanna JJ, Fleckman P, Lewis-Jones S, Arseculeratne G, Sergeant A, Munro CS, El Houate B, McElreavey K, Halkjaer LB, Bisgaard H, Mukhopadhyay S, McLean WH. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006, 38:441-446. 10.1038/ng1767, 16550169.
19. Elias PM. Stratum corneum defensive functions: an integrated view. J Invest Dermatol 2005, 125:183-200.
20. Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006, 38:337-342. 10.1038/ng1743, 16444271.
21. Weidinger S, Illig T, Baurecht H, Irvine AD, Rodriguez E, Diaz-Lacava A, Klopp N, Wagenpfeil S, Zhao Y, Liao H, Lee SP, Palmer CN, Jenneck C, Maintz L, Hagemann T, Behrendt H, Ring J, Nothen MM, McLean WH, Novak N. Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol 2006, 118:214-219. 10.1016/j.jaci.2006.05.004, 16815158.
22. Marenholz I, Nickel R, Ruschendorf F, Schulz F, Esparza-Gordillo J, Kerscher T, Gruber C, Lau S, Worm M, Keil T, Kurek M, Zaluga E, Wahn U, Lee YA. Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. J Allergy Clin Immunol 2006, 118:866-871. 10.1016/j.jaci.2006.07.026, 17030239.
23. Barker JN, Palmer CN, Zhao Y, Liao H, Hull PR, Lee SP, Allen MH, Meggitt SJ, Reynolds NJ, Trembath RC, McLean WH. Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood. J Invest Dermatol 2007, 127(3):564-567.
24. Ruether A, Stoll M, Schwarz T, Schreiber S, Folster-Holst R. Filaggrin loss-of-function variant contributes to atopic dermatitis risk in the population of Northern Germany. Br J Dermatol 2006, 155:1093-1094. 10.1111/j.1365-2133.2006.07500.x, 17034559.
25. Morar N, Cookson WO, Harper JI, Moffatt MF. Filaggrin mutations in children with severe atopic dermatitis. J Invest Dermatol 2007, 127:1667-1672.
26. Palmer CN, Ismail T, Lee SP, Terron-Kwiatkowski A, Zhao Y, Liao H, Smith FJ, McLean WH, Mukhopadhyay S. Filaggrin null mutations are associated with increased asthma severity in children and young adults. J Allergy Clin Immunol 2007, 120:64-68. 10.1016/j.jaci.2007.04.001, 17531295.
27. Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, Watson RM, Carrick T, Evans AT, Liao H, Zhao Y, Campbell LE, Schmuth M, Gruber R, Janecke AR, Elias PM, van Steensel MA, Nagtzaam I, van Geel M, Steijlen PM, Munro CS, Bradley DG, Palmer CN, Smith FJ, McLean WH, Irvine AD. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 2007, 39:650-654. 10.1038/ng2020, 17417636.
28. Postma DS, Meyers DA, Jongepier H, Howard TD, Koppelman GH, Bleecker ER. Genomewide screen for pulmonary function in 200 families ascertained for asthma. Am J Respir Crit Care Med 2005, 172:446-52. Epub 2005 May 18.. 10.1164/rccm.200407-864OC, 15901612.
29. Noguchi E, Shibasaki M, Arinami T, Takeda K, Maki T, Miyamoto T, Kawashima T, Kobayashi K, Hamaguchi H. Evidence for linkage between asthma/atopy in childhood and chromosome 5q31-q33 in a Japanese population. Am J Respir Crit Care Med 1997, 156:1390-1393.
30. Martinez FD, Solomon S, Holberg CJ, Graves PE, Baldini M, Erickson RP. Linkage of circulating eosinophils to markers on chromosome 5q. Am J Respir Crit Care Med 1998, 158:1739-1744.
31. Shek LP, Tay AH, Chew FT, Goh DL, Lee BW. Genetic susceptibility to asthma and atopy among Chinese in Singapore--linkage to markers on chromosome 5q31-33. Allergy 2001, 56:749-753. 10.1034/j.1398-9995.2001.056008749.x, 11488668.
32. Xu J, Postma DS, Howard TD, Koppelman GH, Zheng SL, Stine OC, Bleecker ER, Meyers DA. Major genes regulating total serum immunoglobulin E levels in families with asthma. Am J Hum Genet 2000, 67:1163-73. Epub 2000 Oct 6.. 1288559, 11023809, 10.1086/321190.
33. Ober C, Cox NJ, Abney M, Di Rienzo A, Lander ES, Changyaleket B, Gidley H, Kurtz B, Lee J, Nance M, Pettersson A, Prescott J, Richardson A, Schlenker E, Summerhill E, Willadsen S, Parry R. Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma. Hum Mol Genet 1998, 7:1393-1398. 10.1093/hmg/7.9.1393, 9700192.
34. Hizawa N, Freidhoff LR, Chiu YF, Ehrlich E, Luehr CA, Anderson JL, Duffy DL, Dunston GM, Weber JL, Huang SK, Barnes KC, Marsh DG, Beaty TH. Genetic regulation of Dermatophagoides pteronyssinus-specific IgE responsiveness: a genome-wide multipoint linkage analysis in families recruited through 2 asthmatic sibs. Collaborative Study on the Genetics of Asthma (CSGA). J Allergy Clin Immunol 1998, 102:436-442. 10.1016/S0091-6749(98)70132-0, 9768585.
35. van der Pouw Kraan TC, van Veen A, Boeije LC, van Tuyl SA, de Groot ER, Stapel SO, Bakker A, Verweij CL, Aarden LA, van der Zee JS. An IL-13 promoter polymorphism associated with increased risk of allergic asthma. Genes Immun 1999, 1:61-65. 10.1038/sj.gene.6363630, 11197307.
36. Liu X, Nickel R, Beyer K, Wahn U, Ehrlich E, Freidhoff LR, Bjorksten B, Beaty TH, Huang SK. An IL13 coding region variant is associated with a high total serum IgE level and atopic dermatitis in the German multicenter atopy study (MAS-90). J Allergy Clin Immunol 2000, 106:167-170. 10.1067/mai.2000.107935, 10887320.
37. Graves PE, Kabesch M, Halonen M, Holberg CJ, Baldini M, Fritzsch C, Weiland SK, Erickson RP, von Mutius E, Martinez FD. A cluster of seven tightly linked polymorphisms in the IL-13 gene is associated with total serum IgE levels in three populations of white children. J Allergy Clin Immunol 2000, 105:506-513. 10.1067/mai.2000.104940, 10719301.
38. Heinzmann A, Mao XQ, Akaiwa M, Kreomer RT, Gao PS, Ohshima K, Umeshita R, Abe Y, Braun S, Yamashita T, Roberts MH, Sugimoto R, Arima K, Arinobu Y, Yu B, Kruse S, Enomoto T, Dake Y, Kawai M, Shimazu S, Sasaki S, Adra CN, Kitaichi M, Inoue H, Yamauchi K, Tomichi N, Kurimoto F, Hamasaki N, Hopkin JM, Izuhara K, Shirakawa T, Deichmann KA. Genetic variants of IL-13 signalling and human asthma and atopy. Hum Mol Genet 2000, 9:549-559. 10.1093/hmg/9.4.549, 10699178.
39. Leung TF, Tang NL, Chan IH, Li AM, Ha G, Lam CW. A polymorphism in the coding region of interleukin-13 gene is associated with atopy but not asthma in Chinese children. Clin Exp Allergy 2001, 31:1515-1521. 10.1046/j.1365-2222.2001.01212.x, 11678850.
40. DeMeo DL, Lange C, Silverman EK, Senter JM, Drazen JM, Barth MJ, Laird N, Weiss ST. Univariate and multivariate family-based association analysis of the IL-13 ARG130GLN polymorphism in the Childhood Asthma Management Program. Genet Epidemiol 2002, 23:335-348. 10.1002/gepi.10182, 12432502.
41. Howard TD, Whittaker PA, Zaiman AL, Koppelman GH, Xu J, Hanley MT, Meyers DA, Postma DS, Bleecker ER. Identification and association of polymorphisms in the interleukin-13 gene with asthma and atopy in a Dutch population. Am J Respir Cell Mol Biol 2001, 25:377-384.
42. Leung TF, Chan IH, Wong GW, Li CY, Tang NL, Yung E, Lam CW. Association between candidate genes and lung function growth in Chinese asthmatic children. Clin Exp Allergy 2007, 37:1480-1486.
43. Hosseini-Farahabadi S, Tavakkol-Afshari J, Rafatpanah H, Farid Hosseini R, Khaje Daluei M. Association between the Polymorphisms of IL-4 Gene Promoter (-590C>T), IL-13 Coding Region (R130Q) and IL-16 Gene Promoter (-295T>C) and Allergic Asthma. Iran J Allergy Asthma Immunol 2007, 6:9-14.
44. Bernstein DI, Wang N, Campo P, Chakraborty R, Smith A, Cartier A, Boulet LP, Malo JL, Yucesoy B, Luster M, Tarlo SM, Hershey GK. Diisocyanate asthma and gene-environment interactions with IL4RA, CD-14, and IL-13 genes. Ann Allergy Asthma Immunol 2006, 97:800-806.
45. Battle NC, Choudhry S, Tsai HJ, Eng C, Kumar G, Beckman KB, Naqvi M, Meade K, Watson HG, Lenoir M, Burchard EG. Ethnicity-specific gene-gene interaction between IL-13 and IL-4Ralpha among African Americans with asthma. Am J Respir Crit Care Med 2007, 175:881-887. 10.1164/rccm.200607-992OC, 17303794.
46. Hunninghake GM, Soto-Quiros ME, Avila L, Su J, Murphy A, Demeo DL, Ly NP, Liang C, Sylvia JS, Klanderman BJ, Lange C, Raby BA, Silverman EK, Celedon JC. Polymorphisms in IL13, total IgE, eosinophilia, and asthma exacerbations in childhood. J Allergy Clin Immunol 2007, 120:84-90. 10.1016/j.jaci.2007.04.032, 17561245.
47. Tarazona-Santos E, Tishkoff SA. Divergent patterns of linkage disequilibrium and haplotype structure across global populations at the interleukin-13 (IL13) locus. Genes Immun 2005, 6:53-65.
48. Madhankumar AB, Mintz A, Debinski W. Alanine-scanning mutagenesis of alpha-helix D segment of interleukin-13 reveals new functionally important residues of the cytokine. J Biol Chem 2002, 277:43194-205. Epub 2002 Aug 19.. 10.1074/jbc.M205047200, 12189139.
49. Chen W, Ericksen MB, Levin LS, Khurana Hershey GK. Functional effect of the R110Q IL13 genetic variant alone and in combination with IL4RA genetic variants. J Allergy Clin Immunol 2004, 114:553-560. 10.1016/j.jaci.2004.04.044, 15356556.
50. Vladich FD, Brazille SM, Stern D, Peck ML, Ghittoni R, Vercelli D. IL-13 R130Q, a common variant associated with allergy and asthma, enhances effector mechanisms essential for human allergic inflammation. J Clin Invest 2005, 115:747-754. 548315, 15711639, 10.1172/JCI200522818.
51. Kawaguchi M, Onuchic LF, Li XD, Essayan DM, Schroeder J, Xiao HQ, Liu MC, Krishnaswamy G, Germino G, Huang SK. Identification of a novel cytokine, ML-1, and its expression in subjects with asthma. J Immunol 2001, 167:4430-4435.
52. Starnes T, Robertson MJ, Sledge G, Kelich S, Nakshatri H, Broxmeyer HE, Hromas R. Cutting edge: IL-17F, a novel cytokine selectively expressed in activated T cells and monocytes, regulates angiogenesis and endothelial cell cytokine production. J Immunol 2001, 167:4137-4140.
53. Hymowitz SG, Filvaroff EH, Yin JP, Lee J, Cai L, Risser P, Maruoka M, Mao W, Foster J, Kelley RF, Pan G, Gurney AL, de Vos AM, Starovasnik MA. IL-17s adopt a cystine knot fold: structure and activity of a novel cytokine, IL-17F, and implications for receptor binding. Embo J 2001, 20:5332-5341. 125646, 11574464, 10.1093/emboj/20.19.5332.
54. Haagerup A, Bjerke T, Schiotz PO, Binderup HG, Dahl R, Kruse TA. Asthma and atopy - a total genome scan for susceptibility genes. Allergy 2002, 57:680-686. 10.1034/j.1398-9995.2002.23523.x, 12121185.
55. Wjst M, Fischer G, Immervoll T, Jung M, Saar K, Rueschendorf F, Reis A, Ulbrecht M, Gomolka M, Weiss EH, Jaeger L, Nickel R, Richter K, Kjellman NI, Griese M, von Berg A, Gappa M, Riedel F, Boehle M, van Koningsbruggen S, Schoberth P, Szczepanski R, Dorsch W, Silbermann M, Wichmann HE, et al. A genome-wide search for linkage to asthma. German Asthma Genetics Group. Genomics 1999, 58:1-8. 10.1006/geno.1999.5806, 10333435.
56. Kawaguchi M, Takahashi D, Hizawa N, Suzuki S, Matsukura S, Kokubu F, Maeda Y, Fukui Y, Konno S, Huang SK, Nishimura M, Adachi M. IL-17F sequence variant (His161Arg) is associated with protection against asthma and antagonizes wild-type IL-17F activity. J Allergy Clin Immunol 2006, 117:795-801. 10.1016/j.jaci.2005.12.1346, 16630936.
57. Ramsey CD, Lazarus R, Camargo CA, Weiss ST, Celedon JC. Polymorphisms in the interleukin 17F gene (IL17F) and asthma. Genes Immun 2005, 6:236-241. 10.1038/sj.gene.6364170, 15703761.
58. Suzuki S, Kokubu F, Kawaguchi M, Homma T, Odaka M, Watanabe S, Ieki K, Matsukura S, Kurokawa M, Takeuchi H, Sasaki Y, Huang SK, Adachi M, Ota H. Expression of interleukin-17F in a mouse model of allergic asthma. Int Arch Allergy Immunol 2007, 143 Suppl 1:89-94. 10.1159/000101413, 17541285.
59. Kawaguchi M, Kokubu F, Huang SK, Homma T, Odaka M, Watanabe S, Suzuki S, Ieki K, Matsukura S, Kurokawa M, Adachi M. The IL-17F signaling pathway is involved in the induction of IFN-gamma-inducible protein 10 in bronchial epithelial cells. J Allergy Clin Immunol 2007, 119:1408-1414. 10.1016/j.jaci.2007.02.036, 17418381.
60. Spurrell JC, Wiehler S, Zaheer RS, Sanders SP, Proud D. Human airway epithelial cells produce IP-10 (CXCL10) in vitro and in vivo upon rhinovirus infection. Am J Physiol Lung Cell Mol Physiol 2005, 289:L85-95. 10.1152/ajplung.00397.2004, 15764644.
61. Wark PA, Bucchieri F, Johnston SL, Gibson PG, Hamilton L, Mimica J, Zummo G, Holgate ST, Attia J, Thakkinstian A, Davies DE. IFN-gamma-induced protein 10 is a novel biomarker of rhinovirus-induced asthma exacerbations. J Allergy Clin Immunol 2007, 120:586-593. 10.1016/j.jaci.2007.04.046, 17628646.
62. Akimzhanov AM, Yang XO, Dong C. Chromatin remodeling of interleukin-17 (IL-17)-IL-17F cytokine gene locus during inflammatory helper T cell differentiation. J Biol Chem 2007, 282:5969-5972. 10.1074/jbc.C600322200, 17218320.
63. Lynch KR, O'Neill GP, Liu Q, Im DS, Sawyer N, Metters KM, Coulombe N, Abramovitz M, Figueroa DJ, Zeng Z, Connolly BM, Bai C, Austin CP, Chateauneuf A, Stocco R, Greig GM, Kargman S, Hooks SB, Hosfield E, Williams DL, Ford-Hutchinson AW, Caskey CT, Evans JF. Characterization of the human cysteinyl leukotriene CysLT1 receptor. Nature 1999, 399:789-793. 10.1038/21658, 10391245.
64. Takasaki J, Kamohara M, Matsumoto M, Saito T, Sugimoto T, Ohishi T, Ishii H, Ota T, Nishikawa T, Kawai Y, Masuho Y, Isogai T, Suzuki Y, Sugano S, Furuichi K. The molecular characterization and tissue distribution of the human cysteinyl leukotriene CysLT(2) receptor. Biochem Biophys Res Commun 2000, 274:316-322. 10.1006/bbrc.2000.3140, 10913337.
65. Daniels SE, Bhattacharrya S, James A, Leaves NI, Young A, Hill MR, Faux JA, Ryan GF, le Souef PN, Lathrop GM, Musk AW, Cookson WO. A genome-wide search for quantitative trait loci underlying asthma. Nature 1996, 383:247-250. 10.1038/383247a0, 8805698.
66. Kimura K, Noguchi E, Shibasaki M, Arinami T, Yokouchi Y, Takeda K, Yamakawa-Kobayashi K, Matsui A, Hamaguchi H. Linkage and association of atopic asthma to markers on chromosome 13 in the Japanese population. Hum Mol Genet 1999, 8:1487-1490. 10.1093/hmg/8.8.1487, 10400996.
67. Fukai H, Ogasawara Y, Migita O, Koga M, Ichikawa K, Shibasaki M, Arinami T, Noguchi E. Association between a polymorphism in cysteinyl leukotriene receptor 2 on chromosome 13q14 and atopic asthma. Pharmacogenetics 2004, 14:683-690. 10.1097/00008571-200410000-00006, 15454733.
68. Pillai SG, Cousens DJ, Barnes AA, Buckley PT, Chiano MN, Hosking LK, Cameron LA, Fling ME, Foley JJ, Green A, Sarau HM, Schmidt DB, Sprankle CS, Blumenthal MN, Vestbo J, Kennedy-Wilson K, Wixted WE, Wagner MJ, Anderson WH, Ignar DM. A coding polymorphism in the CYSLT2 receptor with reduced affinity to LTD4 is associated with asthma. Pharmacogenetics 2004, 14:627-633. 10.1097/00008571-200409000-00007, 15475736.
69. Thompson MD, Storm van's Gravesande K, Galczenski H, Burnham WM, Siminovitch KA, Zamel N, Slutsky A, Drazen JM, George SR, Evans JF, O'Dowd BF. A cysteinyl leukotriene 2 receptor variant is associated with atopy in the population of Tristan da Cunha. Pharmacogenetics 2003, 13:641-649. 10.1097/00008571-200310000-00008, 14515063.
70. Hao L, Sayers I, Cakebread JA, Barton SJ, Beghe B, Holgate ST, Sampson AP, Holloway JW. The cysteinyl-leukotriene type 1 receptor polymorphism 927T/C is associated with atopy severity but not with asthma. Clin Exp Allergy 2006, 36:735-741. 10.1111/j.1365-2222.2006.02511.x, 16776674.
71. Arriba-Mendez S, Sanz C, Isidoro-Garcia M, Davild I, Laffond E, Horeno E, Avila C, Lorente F. 927T>C polymorphism of the cysteinyl-leukotriene type-1 receptor (CYSLTR1) gene in children with asthma and atopic dermatitis. Pediatr Allergy Immunol 2006, 17:323-328. 10.1111/j.1399-3038.2006.00416.x, 16846449.
72. Sanz C, Isidro-Garcia M, Davila I, Moreno E, Laffond E, Lorente F. Analysis of 927T> C CYSLTRI and -444A > C LTC4S polymorphisms in patients with asthma. J Investig Allergol Clin Immunol 2006, 16:331-337.
73. Kim SH, Oh JM, Kim YS, Palmer LJ, Suh CH, Nahm DH, Park HS. Cysteinyl leukotriene receptor 1 promoter polymorphism is associated with aspirin-intolerant asthma in males. Clin Exp Allergy 2006, 36:433-439. 10.1111/j.1365-2222.2006.02457.x, 16630147.
74. Kim SH, Yang EM, Park HJ, Ye YM, Lee HY, Park HS. Differential Contribution of the CysLTR1 Gene in Patients with Aspirin Hypersensitivity. J Clin Immunol 2007, 27:613-619. 10.1007/s10875-007-9115-x, 17641958.
75. The International HapMap Project. 2003, http://www.hapmap.org
76. Zhang J, Migita O, Koga M, Shibasaki M, Arinami T, Noguchi E. Determination of structure and transcriptional regulation of CYSLTR1 and an association study with asthma and rhinitis. Pediatr Allergy Immunol 2006, 17:242-249. 10.1111/j.1399-3038.2005.00347.x, 16771777.
77. Duroudier NP, Sayers I, Castagna CC, Fenech AG, Halapi E, Swan C, Hall IP. Functional polymorphism and differential regulation of CYSLTR1 transcription in human airway smooth muscle and monocytes. Cell Biochem Biophys 2007, 47:119-130.
78. Woszczek G, Pawliczak R, Qi HY, Nagineni S, Alsaaty S, Logun C, Shelhamer JH. Functional characterization of human cysteinyl leukotriene 1 receptor gene structure. J Immunol 2005, 175:5152-5159.
79. Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S, Depner M, von Berg A, Bufe A, Rietschel E, Heinzmann A, Simma B, Frischer T, Willis-Owen SA, Wong KC, Illig T, Vogelberg C, Weiland SK, von Mutius E, Abecasis GR, Farrall M, Gut IG, Lathrop GM, Cookson WO. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 2007, 448:470-473. 10.1038/nature06014, 17611496.
80. Hjelmqvist L, Tuson M, Marfany G, Herrero E, Balcells S, Gonzalez-Duarte R. ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins. Genome Biol 2002, 3:RESEARCH0027. 116724, 12093374, 10.1186/gb-2002-3-6-research0027.