期刊论文详细信息
Respiratory Research
Interactions between genes and environmental factors in asthma and atopy: new developments
Renate Nickel1  Ulrich Wahn1  Susanne Lau1  Claudia Sengler1 
[1] Department of Pediatric Pneumology and Immunology, Charité, Humboldt University Berlin, Berlin, Germany
关键词: infection;    genetics;    environment;    atopy;    asthma;   
Others  :  1227413
DOI  :  10.1186/rr179
 received in 2001-04-10, accepted in 2001-07-27,  发布年份 2001
PDF
【 摘 要 】

Asthma and associated phenotypes are complex traits most probably caused by an interaction of multiple disease susceptibility genes and environmental factors. Major achievements have occurred in identifying chromosomal regions and polymorphisms in candidate genes linked to or associated with asthma, atopic dermatitis, IgE levels and response to asthma therapy. The aims of this review are to explain the methodology of genetic studies of multifactorial diseases, to summarize chromosomal regions and polymorphisms in candidate genes linked to or associated with asthma and associated traits, to list genetic alterations that may alter response to asthma therapy, and to outline genetic factors that may render individuals more susceptible to asthma and atopy due to environmental changes.

【 授权许可】

   
2002 BioMed Central Ltd

【 预 览 】
附件列表
Files Size Format View
20150928101225694.pdf 434KB PDF download
Supplementary Figure 1. 44KB Image download
【 图 表 】

Supplementary Figure 1.

【 参考文献 】
  • [1]von Mutius E, Martinez FD, Fritzsch C, Nicolai T, Roell G, Thiemann HH: Prevalence of asthma and atopy in two areas of West and East Germany. Am J Respir Crit Care Med 1994, 149:358-364.
  • [2]von Mutius E, Braun-Fahrlander C, Schierl R, Riedler J, Ehlermann S, Maisch S, Waser M, Nowak D: Exposure to endotoxin or other bacterial components might protect against the development of atopy. Clin Exp Allergy 2000, 30:1230-1234.
  • [3]von Mutius E, Martinez FD, Fritzsch C, Nicolai T, Reitmeir P, Thiemann HH: Skin test reactivity and number of siblings. BMJ 1994, 308:692-695.
  • [4]Von Ehrenstein OS, Von Mutius E, Illi S, Baumann L, Bohm O, von Kries R: Reduced risk of hay fever and asthma among children of farmers. Clin Exp Allergy 2000, 30:187-193.
  • [5]Illi S, von Mutius E, Lau S, Bergmann R, Niggemann B, Sommer-feld C, Wahn U: Early childhood infectious diseases and the development of asthma up to school age: a birth cohort study. BMJ 2001, 322:390-395.
  • [6]Gereda JE, Leung DY, Thatayatikom A, Streib JE, Price MR, Klinnert MD, Liu AH: Relation between house-dust endotoxin exposure, type 1 T-cell development, and allergen sensitisa-tion in infants at high risk of asthma. Lancet 2000, 355:1680-1683.
  • [7]Sandford A, Weir T, Pare P: The genetics of asthma. Am J Respir Crit Care Med 1996, 153:1749-1765.
  • [8]Skadhauge LR, Christensen K, Kyvik KO, Sigsgaard T: Genetic and environmental influence on asthma: a population-based study of 11,688 Danish twin pairs. Eur Respir J 1999, 13:8-14.
  • [9]Lander ES, Schork NJ: Genetic dissection of complex traits. Science 1994, 265:2037-2048.
  • [10]Barnes KC: Atopy and asthma genes – where do we stand? Allergy 2000, 55:803-817.
  • [11]Cookson W: The alliance of genes and environment in asthma and allergy. Nature 1999, 402:B5-B11.
  • [12]Ober C, Moffatt MF: Contributing factors to the pathobiology. The genetics of asthma. Clin Chest Med 2000, 21:245-261.
  • [13]Palmer LJ, Cookson WO: Genomic approaches to understanding asthma. Genome Res 2000, 10:1280-1287.
  • [14]Lonjou C, Barnes K, Chen H, Cookson WO, Deichmann KA, Hall IP, Holloway JW, Laitinen T, Palmer LJ, Wjst M, Morton NE: A first trial of retrospective collaboration for positional cloning in complex inheritance: assay of the cytokine region on chromosome 5 by the consortium on asthma genetics (COAG). Proc Natl Acad Sci USA 2000, 97:10942-10947.
  • [15]Palmer LJ, Lonjou C, Barnes K, Chen H, Cookson WO, Deichmann KA, Holloway JW, Laitinen T, Wjst M, Morton NE: Special Report: A retrospective collaboration on chromosome 5 by the International Consortium on Asthma Genetics (COAG). Clin Exp Allergy 2001, 31:152-154.
  • [16]Becker KG, Simon RM, Bailey-Wilson JE, Freidlin B, Biddison WE, McFarland HF, Trent JM: Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. Proc Natl Acad Sci USA 1998, 95:9979-9984.
  • [17]Cookson WO, Ubhi B, Lawrence R, Abecasis GR, Walley AJ, Cox HE, Coleman R, Leaves NI, Trembath RC, Moffatt MF, Harper JI: Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. Nat Genet 2001, 27:372-373.
  • [18]Lee YA, Wahn U, Kehrt R, Tarani L, Businco L, Gustafsson D, Andersson F, Oranje AP, Wolkertstorfer A, Berg A, Hoffmann U, Kuster W, Wienker T, Ruschendorf F, Reis A: A major susceptibility locus for atopic dermatitis maps to chromosome 3q21. Nat Genet 2000, 26:470-473.
  • [19]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.
  • [20]Kruse S, Japha T, Tedner M, Sparholt SH, Forster J, Kuehr J, Deichmann KA: The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction. Immunology 1999, 96:365-371.
  • [21]Ober C, Leavitt SA, Tsalenko A, Howard TD, Hoki DM, Daniel R, Newman DL, Wu X, Parry R, Lester LA, Solway J, Blumenthal M, King RA, Xu J, Meyers DA, Bleecker ER, Cox NJ: Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. Am J Hum Genet 2000, 66:517-526.
  • [22]Barnes KC, Mathias RA, Nickel R, Freidhoff LR, Stockton ML, Xue X, Naidu RP, Levett PN, Casolaro V, Beaty TH: Testing for gene–gene interaction controlling total IgE in families from Barbados: Evidence of sensitivity regarding linkage heterogeneity among families. Genomics 2001, 71:246-251.
  • [23]Hall IP: Pharmacogenetics of asthma. Eur Respir J 2000, 15:449-451.
  • [24]Drysdale CM, McGraw DW, Stack CB, Stephens JC, Judson RS, Nandabalan K, Arnold K, Ruano G, Liggett SB: Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc Natl Acad Sci USA 2000, 97:10483-10488.
  • [25]Turki J, Pak J, Green SA, Martin RJ, Liggett SB: Genetic polymorphisms of the beta 2-adrenergic receptor in nocturnal and nonnocturnal asthma. Evidence that Gly16 correlates with the nocturnal phenotype. J Clin Invest 1995, 95:1635-1641.
  • [26]Szefler SJ, Ando R, Cicutto LC, Surs W, Hill MR, Martin RJ: Plasma histamine, epinephrine, cortisol, and leukocyte beta-adrenergic receptors in nocturnal asthma. Clin Pharmacol Ther 1991, 49:59-68.
  • [27]Israel E, Drazen JM, Liggett SB, Boushey HA, Cherniack RM, Chinchilli VM, Cooper DM, Fahy JV, Fish JE, Ford JG, Kraft M, Kunselman S, Lazarus SC, Lemanske RF, Martin RJ, McLean DE, Peters SP, Silverman EK, Sorkness CA, Szefler SJ, Weiss ST, Yandava CN: The effect of polymorphisms of the beta(2)-adrenergic receptor on the response to regular use of albuterol in asthma. Am J Respir Crit Care Med 2000, 162:75-80.
  • [28]Yan L, Galinsky RE, Bernstein JA, Liggett SB, Weinshilboum RM: Histamine N-methyltransferase pharmacogenetics: association of a common functional polymorphism with asthma. Pharmacogenetics 2000, 10:261-266.
  • [29]Drazen JM, Yandava CN, Dube L, Szczerback N, Hippensteel R, Pillari A, Israel E, Schork N, Silverman ES, Katz DA, Drajesk J: Pharmacogenetic association between ALOX5 promoter genotype and the response to anti-asthma treatment. Nat Genet 1999, 22:168-170.
  • [30]Sanak M, Pierzchalska M, Bazan-Socha S, Szczeklik A: Enhanced expression of the leukotriene C(4) synthase due to overactive transcription of an allelic variant associated with aspirin-intolerant asthma. Am J Respir Cell Mol Biol 2000, 23:290-296.
  • [31]Marquet S, Abel L, Hillaire D, Dessein H, Kalil J, Feingold J, Weissenbach J, Dessein AJ: Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Nat Genet 1996, 14:181-184.
  • [32]Rihet P, Traore Y, Abel L, Aucan C, Traore-Leroux T, Fumoux F: Malaria in humans: Plasmodium falciparum blood infection levels are linked to chromosome 5q31-q33. Am J Hum Genet 1998, 63:498-505.
  • [33]Dessein AJ, Hillaire D, Elwali NE, Marquet S, Mohamed-Ali Q, Mirghani A, Henri S, Abdelhameed AA, Saeed OK, Magzoub MM, Abel L: Severe hepatic fibrosis in Schistosoma mansoni infection is controlled by a major locus that is closely linked to the interferon-gamma receptor gene. Am J Hum Genet 1999, 65:709-721.
  • [34]Roberts M, Butterworth AE, Kimani G, Kamau T, Fulford AJ, Dunne DW, Ouma JH, Sturrock RF: Immunity after treatment of human schistosomiasis: association between cellular responses and resistance to reinfection. Infect Immun 1993, 61:4984-4993.
  • [35]Palmer LJ, Pare PD, Faux JA, Moffatt MF, Daniels SE, LeSouef PN, Bremner PR, Mockford E, Gracey M, Spargo R, Musk AW, Cookson WO: Fc epsilon R1-beta polymorphism and total serum IgE levels in endemically parasitized Australian aborigines. Am J Hum Genet 1997, 61:182-188.
  • [36]Ramsay CE, Hayden CM, Tiller KJ, Burton PR, Hagel I, Palenque M, Lynch NR, Goldblatt J, LeSouef PN: Association of polymorphisms in the beta2-adrenoreceptor gene with higher levels of parasitic infection. Hum Genet 1999, 104:269-274.
  • [37]Nickel R, Beck LA, Stellato C, Schleimer RP: Chemokines and allergic disease. J Allergy Clin Immunol 1999, 104:723-742.
  • [38]A genome-wide search for asthma susceptibility loci in ethnically diverse populations. The Collaborative Study on the Genetics of Asthma (CSGA). Nat Genet 1997, 15:389-392.
  • [39]Martinson JJ, Chapman NH, Rees DC, Liu YT, Clegg JB: Global distribution of the CCR5 gene 32-basepair deletion. Nat Genet 1997, 16:100-103.
  • [40]Hall IP, Wheatley A, Christie G, McDougall C, Hubbard R, Helms PJ: Association of CCR5 delta32 with reduced risk of asthma. Lancet 1999, 354:1264-1265.
  • [41]Mitchell TJ, Walley AJ, Pease JE, Venables PJ, Wiltshire S, Williams TJ, Cookson WO: Delta 32 deletion of CCR5 gene and association with asthma or atopy. Lancet 2000, 356:1491-1492.
  • [42]Hadley TJ, Peiper SC: From malaria to chemokine receptor: the emerging physiologic role of the Duffy blood group antigen. Blood 1997, 89:3077-3091.
  • [43]Nickel RG, Casolaro V, Wahn U, Beyer K, Barnes KC, Plunkett BS, Freidhoff LR, Sengler C, Plitt JR, Schleimer RP, Caraballo L, Naidu RP, Levett PN, Beaty TH, Huang SK: Atopic dermatitis is associated with a functional mutation in the promoter of the C-C chemokine RANTES. J Immunol 2000, 164:1612-1616.
  • [44]Fryer AA, Spiteri MA, Bianco A, Hepple M, Jones PW, Strange RC, Makki R, Tavernier G, Smilie FI, Custovic A, Woodcock AA, Ollier WE, Hajeer AH: The -403 G → A promoter polymorphism in the RANTES gene is associated with atopy and asthma. Genes Immun 2000, 1:509-514.
  • [45]Nickel R, Barnes KC, Sengler C, Casolaro V, Freidhoff LR, Weber P, Naidu R, Caraballo L, Ehrlich E, Plitt J, Schleimer RP, Huang SK, Beaty T: Evidence for linkage of chemokine polymorphisms to asthma in populations of African descent [abstract]. J Allergy Clin Immunol 1999, 103:S174.
  • [46]Worldwide variation in prevalence of symptoms of asthma, allergic rhinoconjunctivitis, and atopic eczema: ISAAC. The International Study of Asthma and Allergies in Childhood (ISAAC) Steering Committee. Lancet 1998, 351:1225-1232.
  • [47]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.
  • [48]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.
  • [49]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.
  • [50]Ober C, Tsalenko A, Parry R, Cox NJ: A second-generation genome-wide screen for asthma-susceptibility alleles in a founder population. Am J Hum Genet 2000, 67:1154-1162.
  • [51]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: A genome-wide search for linkage to asthma. German Asthma Genetics Group. Genomics 1999, 58:1-8.
  • [52]Yokouchi Y, Nukaga Y, Shibasaki M, Noguchi E, Kimura K, Ito S, Nishihara M, Yamakawa-Kobayashi K, Takeda K, Imoto N, Ichikawa K, Matsui A, Hamaguchi H, Arinami T: Significant evidence for linkage of mite-sensitive childhood asthma to chromosome 5q31-q33 near the interleukin 12 B locus by a genome-wide search in Japanese families. Genomics 2000, 66:152-160.
  • [53]Dizier MH, Besse-Schmittler C, Guilloud-Bataille M, Annesi-Maesano I, Boussaha M, Bousquet J, Charpin D, Degioanni A, Gormand F, Grimfeld A, Hochez J, Hyne G, Lockhart A, Luillier-Lacombe M, Matran R, Meunier F, Neukirch F, Pacheco Y, Parent V, Paty E, Pin I, Pison C, Scheinmann P, Thobie N, Vervloet D, Kauffmann F: Genome screen for asthma and related phenotypes in the french EGEA study. Am J Respir Crit Care Med 2000, 162:1812-1818.
  • [54]Meyers DA, Postma DS, Panhuysen CI, Xu J, Amelung PJ, Levitt RC, Bleecker ER: Evidence for a locus regulating total serum IgE levels mapping to chromosome 5. Genomics 1994, 23:464-470.
  • [55]Marsh DG, Neely JD, Breazeale DR, Ghosh B, Freidhoff LR, Ehrlich-Kautzky E, Schou C, Krishnaswamy G, Beaty TH: Linkage analysis of IL4 and other chromosome 5q31.1 markers and total serum immunoglobulin E concentrations. Science 1994, 264:1152-1156.
  • [56]Doull IJ, Lawrence S, Watson M, Begishvili T, Beasley RW, Lampe F, Holgate T, Morton NE: Allelic association of gene markers on chromosomes 5q and 11q with atopy and bronchial hyper-responsiveness. Am J Respir Crit Care Med 1996, 153:1280-1284.
  • [57]Palmer LJ, Daniels SE, Rye PJ, Gibson NA, Tay GK, Cookson WO, Goldblatt J, Burton PR, LeSouef PN: Linkage of chromosome 5q and 11q gene markers to asthma-associated quantitative traits in Australian children. Am J Respir Crit Care Med 1998, 158:1825-1830.
  • [58]Hizawa N, Freidhoff LR, Ehrlich E, Chiu YF, Duffy DL, Schou C, Dunston GM, Beaty TH, Marsh DG, Barnes KC, Huang SK: Genetic influences of chromosomes 5q31-q33 and 11q13 on specific IgE responsiveness to common inhaled allergens among African American families. Collaborative Study on the Genetics of Asthma (CSGA). J Allergy Clin Immunol 1998, 102:449-453.
  • [59]Forrest S, Dunn K, Elliott K, Fitzpatrick E, Fullerton J, McCarthy M, Brown J, Hill D, Williamson R: Identifying genes predisposing to atopic eczema. J Allergy Clin Immunol 1999, 104:1066-1070.
  • [60]Beyer K, Nickel R, Freidhoff L, Bjorksten B, Huang SK, Barnes KC, MacDonald S, Forster J, Zepp F, Wahn V, Beaty TH, Marsh DG, Wahn U: Association and linkage of atopic dermatitis with chromosome 13q12-14 and 5q31-33 markers. J Invest Dermatol 2000, 115:906-908.
  • [61]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.
  • [62]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.
  • [63]Rioux JD, Stone VA, Daly MJ, Cargill M, Green T, Nguyen H, Nutman T, Zimmerman PA, Tucker MA, Hudson T, Goldstein AM, Lander E, Lin AY: Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33. Am J Hum Genet 1998, 63:1086-1094.
  • [64]Postma DS, Bleecker ER, Amelung PJ, Holroyd KJ, Xu J, Panhuysen CI, Meyers DA, Levitt RC: Genetic susceptibility to asthma – bronchial hyperresponsiveness coinherited with a major gene for atopy. N Engl J Med 1995, 333:894-900.
  • [65]Hizawa N, Collins G, Rafnar T, Huang SK, Duffy DL, Weber JL, Freidhoff LR, Ehrlich E, Marsh DG, Beaty TH, Barnes KC: 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 1998, 102:443-448.
  • [66]Caraballo LR, Hernandez M: HLA haplotype segregation in families with allergic asthma. Tissue Antigens 1990, 35:182-186.
  • [67]Cookson WO, Sharp PA, Faux JA, Hopkin JM: Linkage between immunoglobulin E responses underlying asthma and rhinitis and chromosome 11q. Lancet 1989, 1:1292-1295.
  • [68]Young RP, Sharp PA, Lynch JR, Faux JA, Lathrop GM, Cookson WO, Hopkin JM: Confirmation of genetic linkage between atopic IgE responses and chromosome 11q13. J Med Genet 1992, 29:236-238.
  • [69]van Herwerden L, Harrap SB, Wong ZY, Abramson MJ, Kutin JJ, Forbes AB, Raven J, Lanigan A, Walters EH: Linkage of high-affinity IgE receptor gene with bronchial hyperreactivity, even in absence of atopy. Lancet 1995, 346:1262-1265.
  • [70]Shirakawa T, Hashimoto T, Furuyama J, Takeshita T, Morimoto K: Linkage between severe atopy and chromosome 11q13 in Japanese families. Clin Genet 1994, 46:228-232.
  • [71]Collee JM, ten Kate LP, de Vries HG, Kliphuis JW, Bouman K, Scheffer H, Gerritsen J: Allele sharing on chromosome 11q13 in sibs with asthma and atopy [letter]. Lancet 1993, 342:936.
  • [72]Folster-Holst R, Moises HW, Yang L, Fritsch W, Weissenbach J, Christophers E: Linkage between atopy and the IgE high-affinity receptor gene at 11q13 in atopic dermatitis families. Hum Genet 1998, 102:236-239.
  • [73]Wjst M, Wichmann HE: Collaborative study on the genetics of asthma in Germany. Clin Exp Allergy 1995, 25(suppl 2):23-25.
  • [74]Wilkinson J, Grimley S, Collins A, Thomas NS, Holgate ST, Morton N: Linkage of asthma to markers on chromosome 12 in a sample of 240 families using quantitative phenotype scores. Genomics 1998, 53:251-259.
  • [75]Barnes KC, Freidhoff LR, Nickel R, Chiu YF, Juo SH, Hizawa N, Naidu RP, Ehrlich E, Duffy DL, Schou C, Levett PN, Marsh DG, Beaty TH: Dense mapping of chromosome 12q13.12-q23.3 and linkage to asthma and atopy. J Allergy Clin Immunol 1999, 104:485-491.
  • [76]Barnes KC, Neely JD, Duffy DL, Freidhoff LR, Breazeale DR, Schou C, Naidu RP, Levett PN, Renault B, Kucherlapati R, Iozzino S, Ehrlich E, Beaty TH, Marsh DG: Linkage of asthma and total serum IgE concentration to markers on chromosome 12q: evidence from Afro-Caribbean and Caucasian populations. Genomics 1996, 37:41-50.
  • [77]Nickel R, Wahn U, Hizawa N, Maestri N, Duffy DL, Barnes KC, Beyer K, Forster J, Bergmann R, Zepp F, Wahn V, Marsh DG: Evidence for linkage of chromosome 12q15-q24.1 markers to high total serum IgE concentrations in children of the German Multicenter Allergy Study. Genomics 1997, 46:159-162.
  • [78]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.
  • [79]Heinzmann A, Plesnar C, Kuehr J, Forster J, Deichmann KA: Common polymorphisms in the CTLA-4 and CD28 genes at 2q33 are not associated with asthma or atopy. Eur J Immunogenet 2000, 27:57-61.
  • [80]Noguchi E, Shibasaki M, Arinami T, Takeda K, Yokouchi Y, Kawashima T, Yanagi H, Matsui A, Hamaguchi H: Association of asthma and the interleukin-4 promoter gene in Japanese. Clin Exp Allergy 1998, 28:449-453.
  • [81]Rosenwasser LJ, Klemm DJ, Dresback JK, Inamura H, Mascali JJ, Klinnert M, Borish L: Promoter polymorphisms in the chromosome 5 gene cluster in asthma and atopy. Clin Exp Allergy 1995, 25(suppl 2):74-78.
  • [82]Walley AJ, Cookson WO: Investigation of an interleukin-4 promoter polymorphism for associations with asthma and atopy. J Med Genet 1996, 33:689-692.
  • [83]Burchard EG, Silverman EK, Rosenwasser LJ, Borish L, Yandava C, Pillari A, Weiss ST, Hasday J, Lilly CM, Ford JG, Drazen JM: Association between a sequence variant in the IL-4 gene promoter and FEV(1) in asthma. Am J Respir Crit Care Med 1999, 160:919-922.
  • [84]Kawashima T, Noguchi E, Arinami T, Yamakawa-Kobayashi K, Nakagawa H, Otsuka F, Hamaguchi H: Linkage and association of an interleukin 4 gene polymorphism with atopic dermatitis in Japanese families. J Med Genet 1998, 35:502-504.
  • [85]Dizier MH, Sandford A, Walley A, Philippi A, Cookson W, Deme-nais F: Indication of linkage of serum IgE levels to the inter-leukin-4 gene and exclusion of the contribution of the (-590 C to T) interleukin-4 promoter polymorphism to IgE variation. Genet Epidemiol 1999, 16:84-94.
  • [86]Suzuki I, Yamaguchi E, Hizawa N, Itoh A, Kawakami Y: A new polymorphism in the 5' flanking region of the human inter-leukin (IL)-4 gene. Immunogenetics 1999, 49:738-739.
  • [87]Pereira E, Goldblatt J, Rye P, Sanderson C, Le Souef P: Mutation analysis of interleukin-5 in an asthmatic cohort. Hum Mutat 1998, 11:51-54.
  • [88]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.
  • [89]Liu X, Nickel R, Beyer K, Wahn U, Ehrlich E, Freidhoff LR, Bjork-sten 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.
  • [90]Heinzmann A, Mao XQ, Akaiwa M, Kreomer RT, Gao PS, Ohshima K, Umeshita R, Abe Y, Braun S, Yamashita T, Roberts MH, Sugi-moto 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.
  • [91]Summerhill E, Leavitt SA, Gidley H, Parry R, Solway J, Ober C: Beta(2)-adrenergic receptor Arg16/Arg16 genotype is associated with reduced lung function, but not with asthma, in the Hutterites. Am J Respir Crit Care Med 2000, 162:599-602.
  • [92]Holloway JW, Dunbar PR, Riley GA, Sawyer GM, Fitzharris PF, Pearce N, Le Gros GS, Beasley R: Association of beta2-adren-ergic receptor polymorphisms with severe asthma. Clin Exp Allergy 2000, 30:1097-1103.
  • [93]Reihsaus E, Innis M, MacIntyre N, Liggett SB: Mutations in the gene encoding for the beta 2-adrenergic receptor in normal and asthmatic subjects. Am J Respir Cell Mol Biol 1993, 8:334-339.
  • [94]Deichmann KA, Schmidt A, Heinzmann A, Kruse S, Forster J, Kuehr J: Association studies on beta2-adrenoceptor polymorphisms and enhanced IgE responsiveness in an atopic population. Clin Exp Allergy 1999, 29:794-799.
  • [95]Tan S, Hall IP, Dewar J, Dow E, Lipworth B: Association between beta 2-adrenoceptor polymorphism and susceptibility to bronchodilator desensitisation in moderately severe stable asthmatics. Lancet 1997, 350:995-999.
  • [96]Dewar JC, Wilkinson J, Wheatley A, Thomas NS, Doull I, Morton N, Lio P, Harvey JF, Liggett SB, Holgate ST, Hall IP: The gluta-mine 27 beta2-adrenoceptor polymorphism is associated with elevated IgE levels in asthmatic families. J Allergy Clin Immunol 1997, 100:261-265.
  • [97]Hall IP, Wheatley A, Wilding P, Liggett SB: Association of Glu 27 beta 2-adrenoceptor polymorphism with lower airway reactivity in asthmatic subjects. Lancet 1995, 345:1213-1214.
  • [98]Noguchi E, Shibasaki M, Arinami T, Yamakawa-Kobayashi K, Yok-ouchi Y, Takeda K, Matsui A, Hamaguchi H: Mutation screening of interferon regulatory factor 1 gene (IRF-1) as a candidate gene for atopy/asthma. Clin Exp Allergy 2000, 30:1563-1567.
  • [99]Baldini M, Lohman IC, Halonen M, Erickson RP, Holt PG, Martinez FD: A Polymorphism* in the 5' flanking region of the CD14 gene is associated with circulating soluble CD14 levels and with total serum immunoglobulin E. Am J Respir Cell Mol Biol 1999, 20:976-983.
  • [100]Gao PS, Mao XQ, Baldini M, Roberts MH, Adra CN, Shirakawa T, Holt PG, Martinez FD, Hopkin JM: Serum total IgE levels and CD14 on chromosome 5q31. Clin Genet 1999, 56:164-165.
  • [101]Van Sambeek R, Stevenson DD, Baldasaro M, Lam BK, Zhao J, Yoshida S, Yandora C, Drazen JM, Penrose JF: 5' flanking region polymorphism of the gene encoding leukotriene C4 synthase does not correlate with the aspirin-intolerant asthma phenotype in the United States. J Allergy Clin Immunol 2000, 106:72-76.
  • [102]Moffatt MF, Cookson WO: The genetics of specific allergy. Monogr Allergy 1996, 33:71-96.
  • [103]Li Kam, Wa TC, Mansur AH, Britton J, Williams G, Pavord I, Richards K, Campbell DA, Morton N, Holgate ST, Morrison JF: Association between -308 tumour necrosis factor promoter polymorphism and bronchial hyperreactivity in asthma. Clin Exp Allergy 1999, 29:1204-1208.
  • [104]Moffatt MF, Cookson WO: Tumour necrosis factor haplotypes and asthma. Hum Mol Genet 1997, 6:551-554.
  • [105]Albuquerque RV, Hayden CM, Palmer LJ, Laing IA, Rye PJ, Gibson NA, Burton PR, Goldblatt J, Lesouef PN: Association of polymorphisms within the tumour necrosis factor (TNF) genes and childhood asthma. Clin Exp Allergy 1998, 28:578-584.
  • [106]Kruse S, Mao XQ, Heinzmann A, Blattmann S, Roberts MH, Braun S, Gao PS, Forster J, Kuehr J, Hopkin JM, Shirakawa T, Deichmann KA: The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma. Am J Hum Genet 2000, 66:1522-1530.
  • [107]Laing IA, Goldblatt J, Eber E, Hayden CM, Rye PJ, Gibson NA, Palmer LJ, Burton PR, Le Souef PN: A polymorphism of the CC16 gene is associated with an increased risk of asthma. J Med Genet 1998, 35:463-467.
  • [108]Gao PS, Mao XQ, Kawai M, Enomoto T, Sasaki S, Tanabe O, Yoshimura K, Shaldon SR, Dake Y, Kitano H, Coull P, Shirakawa T, Hopkin JM: Negative association between asthma and variants of CC16(CC10) on chromosome 11q13 in British and Japanese populations. Hum Genet 1998, 103:57-59.
  • [109]Shirakawa T, Li A, Dubowitz M, Dekker JW, Shaw AE, Faux JA, Ra C, Cookson WO, Hopkin JM: Association between atopy and variants of the beta subunit of the high-affinity immunoglobulin E receptor. Nat Genet 1994, 7:125-129.
  • [110]Shirakawa T, Mao XQ, Sasaki S, Enomoto T, Kawai M, Morimoto K, Hopkin J: Association between atopic asthma and a coding variant of Fc epsilon RI beta in a Japanese population [letter]. Hum Mol Genet 1996, 5:2068.
  • [111]Hill MR, James AL, Faux JA, Ryan G, Hopkin JM, le Souef P, Musk AW, Cookson WO: Fc epsilon RI-beta polymorphism and risk of atopy in a general population sample. BMJ 1995, 311:776-779.
  • [112]Hill MR, Cookson WO: A new variant of the beta subunit of the high-affinity receptor for immunoglobulin E (Fc epsilon RI-beta E237G): associations with measures of atopy and bronchial hyper-responsiveness. Hum Mol Genet 1996, 5:959-962.
  • [113]Ishizawa M, Shibasaki M, Yokouchi Y, Noguchi E, Arinami T, Yamakawa-Kobayashi K, Matsui A, Hamaguchi H: No association between atopic asthma and a coding variant of Fc epsilon R1 beta in a Japanese population. J Hum Genet 1999, 44:308-311.
  • [114]Palmer LJ, Rye PJ, Gibson NA, Moffatt MF, Goldblatt J, Burton PR, Cookson WO, Lesouef PN: Association of FcepsilonR1-beta polymorphisms with asthma and associated traits in Australian asthmatic families. Clin Exp Allergy 1999, 29:1555-1562.
  • [115]Cox HE, Moffatt MF, Faux JA, Walley AJ, Coleman R, Trembath RC, Cookson WO, Harper JI: Association of atopic dermatitis to the beta subunit of the high affinity immunoglobulin E receptor. Br J Dermatol 1998, 138:182-187.
  • [116]Hizawa N, Yamaguchi E, Jinushi E, Kawakami Y: A common FCER1B gene promoter polymorphism influences total serum IgE levels in a Japanese population. Am J Respir Crit Care Med 2000, 161:906-909.
  • [117]Fryer AA, Bianco A, Hepple M, Jones PW, Strange RC, Spiteri MA: Polymorphism at the glutathione S-transferase GSTP1 locus. A new marker for bronchial hyperresponsiveness and asthma. Am J Respir Crit Care Med 2000, 161:1437-1442.
  • [118]Gao PS, Mao XQ, Roberts MH, Arinobu Y, Akaiwa M, Enomoto T, Dake Y, Kawai M, Sasaki S, Hamasaki N, Izuhara K, Shirakawa T, Hopkin JM: Variants of STAT6 (signal transducer and activator of transcription 6) in atopic asthma. J Med Genet 2000, 37:380-382.
  • [119]Hayden C, Pereira E, Rye P, Palmer L, Gibson N, Palenque M, Hagel I, Lynch N, Goldblatt J, Lesouef P: Mutation screening of interferon-gamma (IFNgamma) as a candidate gene for asthma. Clin Exp Allergy 1997, 27:1412-1416.
  • [120]Wechsler ME, Grasemann H, Deykin A, Silverman EK, Yandava CN, Israel E, Wand M, Drazen JM: Exhaled nitric oxide in patients with asthma. Association with nos1 genotype. Am J Respir Crit Care Med 2000, 162:2043-2047.
  • [121]Moffatt MF, Schou C, Faux JA, Cookson WO: Germline TCR-A restriction of immunoglobulin E responses to allergen. Immunogenetics 1997, 46:226-230.
  • [122]Mao XQ, Shirakawa T, Yoshikawa T, Yoshikawa K, Kawai M, Sasaki S, Enomoto T, Hashimoto T, Furuyama J, Hopkin JM, Morimoto K: Association between genetic variants of mast-cell chymase and eczema. Lancet 1996, 348:581-583.
  • [123]Mao XQ, Shirakawa T, Enomoto T, Shimazu S, Dake Y, Kitano H, Hagihara A, Hopkin JM: Association between variants of mast cell chymase gene and serum IgE levels in eczema. Hum Hered 1998, 48:38-41.
  • [124]Kawashima T, Noguchi E, Arinami T, Kobayashi K, Otsuka F, Ham-aguchi H: No evidence for an association between a variant of the mast cell chymase gene and atopic dermatitis based on case-control and haplotype-relative-risk analyses. Hum Hered 1998, 48:271-274.
  • [125]Pascale E, Tarani L, Meglio P, Businco L, Battiloro E, Cimino-Reale G, Verna R, D'Ambrosio E: Absence of association between a variant of the mast cell chymase gene and atopic dermatitis in an Italian population. Hum Hered 2001, 51:177-179.
  • [126]Tanaka K, Sugiura H, Uehara M, Sato H, Hashimoto-Tamaoki T, Furuyama J: Association between mast cell chymase genotype and atopic eczema: comparison between patients with atopic eczema alone and those with atopic eczema and atopic respiratory disease. Clin Exp Allergy 1999, 29:800-803.
  • [127]Hershey GK, Friedrich MF, Esswein LA, Thomas ML, Chatila TA: The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor. N Engl J Med 1997, 337:1720-1725.
  • [128]Rosa-Rosa L, Zimmermann N, Bernstein JA, Rothenberg ME, Khurana Hershey GK: The R576 IL-4 receptor alpha allele correlates with asthma severity. J Allergy Clin Immunol 1999, 104:1008-1014.
  • [129]Patuzzo C, Trabetti E, Malerba G, Martinati LC, Boner AL, Pescollderungg L, Zanoni G, Pignatti PF: No linkage or association of the IL-4Ralpha gene Q576R mutation with atopic asthma in Italian families. J Med Genet 2000, 37:382-384.
  • [130]Oiso N, Fukai K, Ishii M: Interleukin 4 receptor alpha chain polymorphism Gln551Arg is associated with adult atopic dermatitis in Japan. Br J Dermatol 2000, 142:1003-1006.
  • [131]Mitsuyasu H, Izuhara K, Mao XQ, Gao PS, Arinobu Y, Enomoto T, Kawai M, Sasaki S, Dake Y, Hamasaki N, Shirakawa T, Hopkin JM: Ile50Val variant of IL4R alpha upregulates IgE synthesis and associates with atopic asthma. Nat Genet 1998, 19:119-120.
  • [132]Noguchi E, Shibasaki M, Arinami T, Takeda K, Yokouchi Y, Kobayashi K, Imoto N, Nakahara S, Matsui A, Hamaguchi H: No association between atopy/asthma and the ILe50Val polymorphism of IL-4 receptor. Am J Respir Crit Care Med 1999, 160:342-345.
  文献评价指标  
  下载次数:1次 浏览次数:38次