Identification of a novel asthma susceptibility gene on chromosome 1qter and its functional evaluation

Human Molecular Genetics

Volumn 17, Issue 13, 2008, Pages 1890-1903

  White, Julia H ^a,b   Chiano, Mathias ^a,b   Wigglesworth, Mark ^a,b   Geske, Robert ^a,b   Riley, John ^a,b   White, Nicola ^a,b   Hall, Simon ^c   Zhu, Guohua ^a,b   Maurio, Frank ^a,b   Savage, Tony ^a,b   Anderson, Wayne ^a,b   Cordy, Joanna ^a,b   Ducceschi, Melissa ^a,b   Vestbo, Jorgen ^d,e   Pillai, Sreekumar G ^a,b   Barnes, Kathleen C ^f   Carlsen, Karin ^g   Gerritsen, Jorrit ^h   Lenney, Warren ⁱ   Silverman, Michael ^j   Sly, Peter ^k   Sundy, John ^l   Tsanakas, John ^m   von Berg, Andrea ⁿ   Whyte, Moira ^o   Helms, Peter J ^p   more..

^a GLAXOSMITHKLINE   (United States)

^b GlaxoSmithKline ^*

^c GLAXOSMITHKLINE   (United Kingdom)

^d Hvidovre University Hospital ^*  (Denmark)

^e Department of Cardiology   (United States)

^f JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^h UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

ⁱ UNIVERSITY HOSPITAL OF NORTH STAFFORDSHIRE   (United Kingdom)

^j UNIVERSITY OF LEICESTER   (United Kingdom)

^k UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^l DUKE UNIVERSITY MEDICAL CENTER   (United States)

^m Aristotle University of Thessaloniki   (Greece)

ⁿ Abt Fuer Kinderheilkunde Foschungsinstitut Praevention von AAK   (Greece)

^o UNIVERSITY OF SHEFFIELD   (United Kingdom)

^p UNIVERSITY OF ABERDEEN   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; OPSIN; OPSIN 3; PROTEIN CHML; RNA; SMALL INTERFERING RNA;

ADULT; ALLERGIC ASTHMA; ARTICLE; ASTHMA; BRONCHUS MUCOSA; CHROMOSOME 1Q; CONTROLLED STUDY; DENMARK; DOWN REGULATION; FAMILY; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENE LOCATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOME ANALYSIS; GENOTYPE; HUMAN; HUMAN TISSUE; IMMUNOCOMPETENT CELL; IMMUNOMODULATION; LEUKEMIA CELL LINE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; T LYMPHOCYTE ACTIVATION; TELOMERE;

EID: 45749111007     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn087     Document Type: Article

References (59)

1. Weiss, K.B., Sullivan, S.D. and Lyttle, C.S. (2000) Trends in the cost of illness for asthma in the United States, 1985-1994. J. Allergy Clin. Immunol., 106, 493-499.
2. Boushey, H.A., Holtzman, M.J., Sheller, J.R. and Nadel, J.A. (1980) Bronchial hyper-reactivity. Am. Rev. Respir. Dis., 12, 389-413.
3. Cookson, W.O. and Moffatt, M.F. (2000) Genetics of asthma and allergic disease. Hum. Mol. Genet., 9, 2359-2364.
4. Anonymous (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.
5. Daniels, S.E., Bhattacharrya, S., James, A., Leaves, N.J., Young, A., Hill, M.R., Faux, J.A., Ryan, G.F., le Souef, P.N., Lathrop, G.M. et al. (1996) A genome-wide search for quantitative trait loci underlying asthma. Nature, 383, 247-250.
6. Dizier, M.H., Besse-Schmittler, C., Guilloud-Bataille, M., Annesi-Maesano, I., Boussaha, M., Bousquet, J., Charpin, D., Degioanni, A., Gormand, F., Grimfeld, A. et al. (2000) Genome screen for asthma and related phenotypes in the French EGEA study. Am. J. Respir. Crit. Care Med., 162, 1812-1818.
7. Haagerup, A., Bjerke, T., Schiotz, P.O., Binderup, H.G., Dahl, R. and Kruse, T.A. (2002) Asthma and atopy - a total genome scan for susceptibility genes. Allergy, 57, 680-686.
8. Hakonarson, H., Bjomsdottir, U.S., Halapi, E., Palsson, S., Adalsteinsdottir, E., Gislason, D., Finnbogason, G., Gislason, T., Kristjansson, K., Amason, T. et al. (2002) A major susceptibility gene for asthma maps to chromosome 14q24. Am. J. Hum. Genet., 71, 483-491.
9. Hersh, C.P., Soto-Quiros, M.E., Avila, L., Lake, S.L., Liang, C., Fournier, E., Spesny, M., Sylvia, J.S., Lazarus, R., Hudson, T. et al. (2006) Genome-wide linkage analysis of pulmonary function in families of children with asthma in Costa Rica. Thorax, 62, 224-230.
10. Hizawa, N., Collins, G., Rafnar, T., Huang, S.K., Duffy, D.L., Weber, J.L., Freidhoff, L.R., Ehrlich, E., Marsh, D.G., Beaty, T.H. et al. (1998) Linkage analysis of Dermatophagoides pteronyssinus-specific IgE responsiveness with polymorphic markers on chromosome 6p21 (HLA-D region) in Caucasian families by the transmission/disequilibrium test. Collaborative Study on the Genetics of Asthma (CSGA). J. Allergy Clin. Immunol., 102, 443-448.
11. Juan, C.C, Soto-Quiros, M.E., Lydiana, A., Stephen, L.L., Catherine, L., Eduardo, F., Mitzi, S., Craig, P.H., Sylvia, J.S., Thomas, J.H. et al. (2007) Significant linkage to airway responsiveness on chromosome 12q24 in families of children with asthma in Costa Rica. Hum. Genet. V120, 691-699.
12. Koppelman, G.H., Stine, O.C., Xu, J., Howard, T.D., Zheng, S.L., Kauffman, H.F., Bleecker, E.R., Meyers, D.A. and Postma, D.S. (2002) Genome-wide search for atopy susceptibility genes in Dutch families with asthma. J. Allergy Clin. Immunol., 109, 498-506.
13. Laitinen, T., Daly, M.J., Rioux, J.D., Kauppi, P., Laprise, C., Petays, T., Green, T., Cargill, M., Haahtela, T., Lander, E.S. et al. (2001) A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population. Nat. Genet., 28, 87-91.
14. Ober, C., Cox, N.J., Abney, M., Di Rienzo, A., Lander, E.S., Changyaleket, B., Gidley, H., Kurtz, B., Lee, J., Nance, M. et al. (1998) Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma. Hum. Mol. Genet., 7, 1393-1398.
15. Wjst, M., Fischer, G., Immervoll, T., Jung, M., Saar, K., Rueschendorf, F., Reis, A., Ulbrecht, M., Gomolka, M., Weiss, E.H. et al. (1999) A genome-wide search for linkage to asthma. German Asthma Genetics Group. Genomics, 58, 1-8.
16. Xu, J., Meyers, D.A., Ober, C., Blumenthal, M.N., Mellen, B., Barnes, K.C., King, R.A., Lester, L.A., Howard, T.D., Solway, J. et al. (2001) Genomewide screen and identification of gene-gene interactions for asthma-susceptibility loci in three U.S. populations: Collaborative study on the genetics of asthma. Am. J. Hum. Genet., 68, 1437-1446.
17. Pillai, S.G., Chiano, M.N., White, N.J., Speer, M., Barnes, K.C., Carlsen, K., Gerritsen, J., Helms, P., Lenney, W., Silverman, M. et al. (2006) A genorne-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: Evidence for a major susceptibility locus on chromosome 2p 8. Eur. J. Hum. Genet. 14, 307-316.
18. Allen, M., Heinzmann, A., Noguchi, E., Abecasis, G., Broxholme, J., Ponting, C.P., Bhattacharyya, S., Tinsley, J., Zhang, Y., Holt, R. et al. (2003) Positional cloning of a novel gene influencing asthma from chromosome 2q14. Nat. Genet., 35, 258-263.
19. Laitinen, T., Polvi, A., Rydman, P., Vendelin, J., Pulkkinen, V., Salmikangas, P., Makela, S., Rehn, M., Pirskanen, A., Rautanen, A. et al. (2004) Characterization of a common susceptibility locus for asthma-related traits. Science, 304, 300-304.
20. Zhang, Y., Leaves, N.I., Anderson, G.G., Ponting, C.P., Broxholme, J., Holt, R., Edser, P., Bhattacharyya, S., Dunham, A., Adcock I.M. et al. (2003) Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma. Nat. Genet., 34, 181-186.
21. Van Eerdewegh, P., Little, R.D., Dupuis, J., Del Mastro, R.G., Falls, K., Simon, J., Torrey, D., Pandit, S., McKenny, J., Braunschweiger, K. et al. (2002) Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature, 418, 426-430.
22. Moffatt, M.F., Kabesch, M., Liang, L., Dixon, A.L., Strachan, D., Heath, S., Depner, M., von Berg, A., Bufe, A., Rietschel, E. et al. (2007) Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature, 448, 470-473.
23. Terakita, A. (2005) The opsins. Genome Biology, 6, 213.
24. Lange, C., DeMeo, D., Silverman, E.K., Weiss, S.T. and Laird, N.M. (2004) PBAT: Tools for family-based association studies. Am. J. Hum. Genet., 74, 367-369.
25. Lange, C., Lyon, H., DeMeo, D., Raby, B., Silverman, E.K. and Weiss, S.T. (2003) A new powerful non-parametric two-stage approach for testing multiple phenotypes in family-based association studies. Hum. Hered. 56, 10-17.
26. Halford, S., Freedman, M.S., Bellingham, J., Inglis, S.L., Poopalasundaram, S., Soni, B.G., Foster, R.G. and Hunt, D.M. (2001) Characterization of a novel human opsin gene with wide tissue expression and identification of embedded and flanking genes on chromosome 1q43. Genomics, 72, 203-208.
27. Blackshaw, S. and Snyder, S.H. (1999) Encephalopsin: A novel mammalian extraretinal opsin discretely localized in the brain. J. Neurosci. 19, 3681-3690.
28. Kumbalasiri, T. and Provencio, I. (2005) Melanopsin and other novel mammalian opsins. Exp. Eye Res., 81, 368-375.
29. Blomhoff, R. and Blomhoff, H.K. (2006) Overview of retinoid metabolism and function. J. Neurobiol., 66, 606-630.
30. Melyan, Z., Tarttelin, E.E., Bellingham, J., Lucas, R.J. and Hankins, M.W. (2005) Addition of human melanopsin renders mammalian cells photoresponsive. Nature, 433, 741-745.
31. Panda, S., Nayak, S.K., Campo, B., Walker, J.R., Hogenesch, J.B. and Jegla, T. (2005) Illumination of the melanopsin signaling pathway. Science, 307, 600-604.
32. Qiu, X., Kumbalasiri, T., Carlson, S.M., Wong, K.Y., Krishna, V., Provencio, I. and Berson, D.M. (2005) Induction of photosensitivity by heterologous expression of melanopsin. Nature, 433, 745-749.
33. Moutsaki, P., Whitmore, D., Bellingham, J., Sakamoto, K., David-Gray, Z.K. and Foster, R.G. (2003) Teleost multiple tissue (tmt) opsin: A candidate photopigment regulating the peripheral clocks of zebrafish? Brain Res. Mol. Brain Res., 112, 135-145.
34. Cohn, L., Elias, J.A. and Chupp, G.L. (2004) Asthma: Mechanisms of disease persistence and progression. Ann. Rev. Immunol., 22, 789-815.
35. Umetsu, D.T. and DeKruyff, R.H. (1997) Th1 and Th2 CD4+ cells in the pathogenesis of allergic diseases. Proc. Soc. Exp. Biol. Med., 215, 11-20.
36. Frayling, T.M., Timpson, N.J., Weedon, M.N., Zeggini, E., Freathy, R.M., Lindgren, C.M., Perry, J.R.B., Elliott, K.S., Lango, H., Rayner, N.W. et al. (2007) A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science, 316, 889-894.
37. Calhoun, W.J. (2003) Nocturnal asthma. Chest, 123, 399S-405S.
38. Koreck, A.I., Csoma, Z., Bodai, L., Ignacz, F., Kenderessy, A.S., Kadocsa, E., Szabo, G., Bor, Z., Erdei, A., Szony, B. et al. (2005) Rhinophototherapy: A new therapeutic tool for the management of allergic rhinitis. J. Allergy Clin. Immunol., 115, 541-547.
39. Kemeny, L. and Koreck, A. (2007) Ultraviolet light phototherapy for allergic rhinitis. J Photochem. Photobiol. B-Biol., 87, 58-65.
40. Riccioni, G., Barbara, M., Bucciarelli, T., Di Ilio, C. and D'Orazio, N. (2007) Antioxidant vitamin supplementation in asthma. Ann. Clin. Lab Sci., 37, 96-101.
41. Kull, I., Bergstrom, A., Lilja, G., Pershagen, G. and Wickman, M. (2006) Fish consumption during the first year of life and development of allergic diseases during childhood 6. Allergy, 61, 1009-1015.
42. Vestbo, J. and Thomas, W.Asthmagen study group (2000) Asthma and genes in a Danish Population: Outline of an ongoing study. Eur. Respir. Rev., 75, 396-399.
43. Pillai, S.G., Tang, D., van den Oord, E.J., Klotsman, M., Barnes, K., Carlsen, K., Gerritsen, J., Lenney, W., SiLverman, M., Sly, P. et al. (2008) Factor analysis in the Genetics of Asthma International Network (GAIN) family study identifies five major quantitative asthma phenotypes. Clin. Exp. Allergy., 38, 421-429.
44. Webb, B.T., van den, O.E., Akkari, A., Wilton, S., Ly, T., Duff, R., Barnes, K.C., Carlsen, K., Gerritsen, J., Lenney, W. et al. (2007) Quantitative linkage genome scan for atopy in a large collection of Caucasian families. Hum. Genet., 121, 83-92.
45. Anonymous (1994) Standardization of Spirometry, 1994 Update. American Thoracic Society. Am. J. Respir. Crit. Care Med., 152, 1107-1136.
46. Cockcroft, D.W., Killian, D.N., Mellon, J.J. and Hargreave, F.E. (1977) Bronchial reactivity to inhaled histamine: A method and clinical survey. Clin. Allergy, 7, 235-243.
47. Juniper, E.F., Syty-Golda, M. and Hargreave, F.E. (1984) Histamine inhalation tests: Inhalation of aerosol via a facemask versus a valve box with mouthpiece. Thorax, 39, 556-557.
48. Abecasis, G.R., Cherny, S.S., Cookson, W.O. and Cardon, L.R. (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet., 30, 97-101.
49. Kong, A. and Cox, N.J. (1997) Allele-sharing models: LOD scores and accurate linkage tests. Am. J. Hum. Genet., 61, 1179-1188.
50. Horikawa, Y., Oda, N., Cox, N.J., Li, X., Orho-Melander, M., Hara, M., Hinokio, Y., Lindner, T.H., Mashima, H., Schwarz, P.E. et al. (2000) Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat. Genet., 26, 163-175. [see comment] [erratum appears in Nat. Genet. 2000, 26(4): 502].
51. Lange, C., DeMeo, D., Silverman, E.K., Weiss, S.T. and Laird, N.M. (2003) Using the noninformative families in family-based association tests: A powerful new testing strategy. Am. J. Hum. Genet., 73 801-811.
52. Lange, C. and Laird, N.M. (2002) On a general class of conditional tests for family-based association studies in genetics: The asymptotic distribution, the conditional power, and optimality considerations. Genet. Epidemiol., 23, 165-180.
53. Horvath, S., Xu, X. and Laird, N.M. (2001) The family based association test method: Strategies for studying general genotype-phenotype associations. Eur. J. Hum. Genet., 9, 301-306.
54. Van Steen, K., McQueen, M.B., Herbert, A., Raby, B., Lyon, H., DeMeo, D.L., Murphy, A., Su, J., Datta, S., Rosenow, C. et al. (2005) Genomic screening and replication using the same data set in family-based association testing. Nat. Genet., 37, 683-691.
55. Horvath, S., Xu, X. and Laird, N.M. (2001) The family based association test method: Strategies for studying general genotype-phenotype associations. Eur. J. Hum. Genet., 9, 301-306.
56. Horvath, S., Xu, X., Lake, S.L., Silverman, E.K., Weiss, S.T. and Laird, N.M. (2004) Family-based tests for associating haplotypes with general phenotype data: Application to asthma genetics. Genet. Epidemiol., 26, 61-69.
57. Barrett, J.C., Fry, B., Maller, J. and Daly, M.J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263-265.
58. Gabriel, S.B., Schaffner, S.F., Nguyen, H., Moore, J.M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M. et al. (2002) The structure of haplotype blocks in the human genome. Science, 296, 2225-2229.
59. Chapman, C.G., Meadows, H.J., Godden, R.J., Campbell, D.A., Duckworth, M., Kelsell, R.E., Murdock, P.R., Randall, A.D., Rennie, G.I. and Gloger, I.S. (2000) Cloning, localisation and functional expression of a novel human, cerebellum specific, two pore domain potassium channel 1. Brain Res. Mol. Brain Res., 82, 74-83.