Abstract
Asthma is the most common chronic disease of childhood, affecting an estimated 155 million individuals in the world. The cost of treating the disease in the United States is approx $6 billion dollars per annum (1). More than half of this expense is spent on hospital care and 80% is attributable to the 20% of patients who require the most treatment (1). The market to the pharmaceutical industry for asthma medication is $5.5 billion per annum (2).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Smith DH, Malone DC, Lawson KA, Okamoto LJ, Battista C, Saunders WB. A national estimate of the economic costs of asthma. Am J Respir Crit Care Med 1997;156:787–793.
Stuart M. Start-Up 1999;12–20.
Sampson HA. Pathogenesis of eczema. Clin Exp Allergy 1990;20:459–467.
Schultz Larsen F. Atopic dermatitis: a genetic-epidemiologic study in a population-based twin sample. J Am Acad Dermatol 1993;28:719–723.
Cox HE, Moffatt MF, Faux JA, et al. Association of atopic dermatitis to the beta subunit of the high affinity immunoglobulin E receptor. Br J Dermatol 1998;138:182–187.
Holt PG, Macaubas C, Stumbles PA, Sly PD. The role of allergy in the development of asthma. Nature 1999;402(6760 Suppl):B12–B17.
Bos J. Immunology of atopic dermatitis. Oxford: Blackwell Science, 2000.
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.
Larsen FS, Holm NV, Henningsen K. Atopic dermatitis. Agenetic-epidemiologic study in a population-based twin sample. J Am Acad Dermatol 1986;15:487–494.
Boushey HA, Holtzman MJ, Sheller JR, Nadel JA. Bronchial hyperreactivity. Am Rev Respir Dis 1980; 121:389–413.
O’Connor G, Sparrow D, Taylor D, Segal M, Weiss S. Analysis of dose-response curves to methacholine. An approach suitable for population studies. Am Rev Respir Dis 1987;136:1412–1417.
Cookson W, Palmer L. Investigating the asthma phenotype. Clin Exp Allergy 1998;28(Suppl 1): 88–89; discussion 108–110.
Risch N, Zhang H. Extreme discordant sib pairs for mapping quantitative trait loci in humans. Science 1995;268:1584–1589.
O’Connor GT, Weiss ST. Clinical and symptom measures. Am J Respir Crit Care Med 1994;149: S21–S28.
Postma DS, Bleecker ER, Amelung PJ, et al. Genetic susceptibility to asthma-bronchial hyperresponsiveness coinherited with a major gene for atopy. N Engl J Med 1995;333:894–900.
Ober C, Cox NJ, Abney M, et al. 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.
Van Eerdewegh P, Little RD, Dupuis J, et al. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 2002;418:426–430.
Peat JK, Salome CM, Bauman A, Toelle BG, Wachinger SL, Woolcock AJ. Repeatability of histamine bronchial challenge and comparability with methacholine bronchial challenge in a population of Australian school children. Am Rev Respir Dis 1991;144:338–343.
Sears MR, Burrows B, Flannery EM, Herbison GP, Hewitt CJ, Holdaway MD. Relation between airway responsiveness and serum IgE in children with asthma and in apparently normal children. N Engl J Med 1991;325: 1067–1071.
Plaschke P, Bake B. Pronounced bronchial hyper-responsiveness and asthma severity. Clin Physiol 1994; 14:197–203.
Cookson WO, Hopkin JM. Dominant inheritance of atopic immunoglobulin-E responsiveness. Lancet 1988; 1:86–88.
Daniels SE, Bhattacharrya S, James A, et al. Agenome-wide search for quantitative trait loci underlying asthma. Nature 1996;383:247–250.
Palmer LJ, Burton PR, Faux JA, James AL, Musk AW, Cookson WO. Independent inheritance of serum immunoglobulin E concentrations and airway responsiveness. Am J Respir Crit Care Med 2000;161:1836–1843.
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.
Goring HH, Terwilliger JD. Linkage analysis in the presence of errors II: marker-locus genotyping errors modeled with hypercomplex recombination fractions. Am J Hum Genet 2000;66:1107–1118.
Abecasis GR, Cherny SS, Cardon LR. The impact of genotyping error on family-based analysis of quantitative traits. Eur J Hum Genet 2001;9:130–134.
Abecasis GR, Cherny SS, Cookson WO, Cardon LR. GRR: graphical representation of relationship errors. Bioinformatics 2001;17:742–743.
Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002;30:97–101.
Moffatt M, Cookson W. The genetics of asthma. Maternal effects in atopic disease. Clin Exp Allergy 1998;28(Suppl 1):56–61; discussion 65, 66.
Bennett S, Todd J. Human type 1 diabetes and the insulin gene: principles of mapping polygenes. Annu Rev Genet 1996;30:343–370.
Warram JH, Krolewski AS, Gottlieb MS, Kahn CR. Differences in risk of insulin-dependent diabetes in offspring of diabetic mothers and diabetic fathers. N Engl J Med 1984;311:149–152.
Koumantaki Y, Giziaki E, Linos A, et al. Family history as a risk factor for rheumatoid arthritis: a case-control study. J Rheumatol 1997;24:1522–1526.
Burden A, Javed S, Bailey M, Hodgins M, Connor M, Tillman D. Genetics of psoriasis: paternal inheritance and a locus on chromosome 6p [see comments]. J Invest Dermatol 1998;110:958–960.
Akolkar PN, Gulwani-Akolkar B, Heresbach D, et al. Differences in risk of Crohn’s disease in offspring of mothers and fathers with inflammatory bowel disease. Am J Gastroenterol 1997;92:2241–2244.
Vorechovsky I, Webster AD, Plebani A, Hammarstrom L. Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition. Am J Hum Genet 1999;64:1096–1109.
Abecasis GR, Cardon LR, Cookson WO. A general test of association for quantitative traits in nuclear families. Am J Hum Genet 2000;66:279–292.
Hall JG. Genomic imprinting. Arch Dis Child 1990;65:1013–1016.
Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nat Rev Genet 2001;2: 21–32.
Cookson WO, Young RP, Sandford AJ, et al. Maternal inheritance of atopic IgE responsiveness on chromosome 11q. Lancet 1992;340:381–384.
Cookson WO, Ubhi B, Lawrence R, et al. Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. Nat Genet 2001;27:372–373.
Xu J, Meyers DA, Ober C, et al. 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 2001;68:1437–1446.
Ober C, Tsalenko A, Parry R, Cox NJ. A second-generation genomewide screen for asthma-susceptibility alleles in a founder population. Am J Hum Genet 2000;67:1154–1162.
Wjst M, Fischer G, Immervoll T, et al. A genome-wide search for linkage to asthma. German Asthma Genetics Group. Genomics 1999;58:1–8.
Hizawa N, Freidhoff L, Chiu Y, et al. 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.
Mathias RA, Freidhoff LR, Blumenthal MN, et al. Genome-wide linkage analyses of total serum IgE using variance components analysis in asthmatic families. Genet Epidemiol 2001;20:340–355.
Dizier MH, Besse-Schmittler C, Guilloud-Bataille M, et al. Genome screen for asthma and related phenotypes in the French EGEA study. Am J Respir Crit Care Med 2000;162:1812–1818.
Laitinen T, Daly MJ, Rioux JD, et al. A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population. Nat Genet 2001;28:87–91.
Hakonarson H, Bjornsdottir US, Halapi E, et al. A major susceptibility gene for asthma maps to chromosome 14q24. Am J Hum Genet 2002;71:483–491.
Koppelman GH, Stine OC, Xu J, et al. Genome-wide search for atopy susceptibility genes in Dutch families with asthma. J Allergy Clin Immunol 2002;109:498–506.
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.
Moffatt MF, Hill MR, Cornelis F, et al. Genetic linkage of T cell receptor a/d complex to specific IgE responses. Lancet 1994;343:1597–1600.
Marsh DG, Neely JD, Breazeale DR, et al. Linkage analysis of IL4 and other chromosome 5q31.1 markers and total serum immunoglobulin E concentrations. Science 1994;264:1152–1156.
Barnes KC, Neely JD, Duffy DL, et al. 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.
Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995;11:241–247.
Libert F, Cochaux P, Beckman G, et al. The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe. Hum Mol Genet 1998;7:399–406.
Suarez BK, Hampe CL, Van Eerdewegh P. Problems of replicating linkage claims in psychiatry. In: Gershorn ES, Cloninger CR, eds. Genetic approaches to mental disorders. Washington, DC: American Psychiatric, 1994:23–46.
Levine BB, Stember RH, Fontino M. Ragweed hayfever: genetic control and linkage to HLA haplotyes. Science 1972;178:1201–1203.
Marsh DG, Meyers DA, Bias WB. The epidemiology and genetics of atopic allergy. N Engl J Med 1981; 305:1551–1559.
Young RP, Dekker JW, Wordsworth BP, Cookson WO. HLA-DR and HLA-DP genotypes and immunoglobulin E responses to common major allergens. Clin Exp Allergy 1994;24:431–439.
Moffatt MF, Schou C, Faux JA, et al. Association between quantitative traits underlying asthma and the HLA-DRB1 locus in a family-based population sample. Eur J Hum Genet 2001;9:341–346.
Dekker JW, Nizankowska E, Schmitz-Schumann M, et al. Aspirin-induced asthma and HLA-DRB1 and HLA-DPB1 genotypes. Clin Exp Allergy 1997;27:574–577.
Young RP, Barker RD, Pile KD, Cookson WO, Taylor AJ. The association of HLA-DR3 with specific IgE to inhaled acid anhydrides. Am J Respir Crit Care Med 1995;151:219–221.
Moffatt MF, Schou C, Faux JA, Cookson WO. Germline TCR-A restriction of immunoglobulin E responses to allergen. Immunogenetics 1997;46: 226–230.
Moffatt MF, Cookson WO. Tumour necrosis factor haplotypes and asthma. Hum Mol Genet 1997;6: 551–554.
Albuquerque RV, Hayden CM, Palmer LJ, et al. Association of polymorphisms within the tumour necrosis factor (TNF) genes and childhood asthma. Clin Exp Allergy 1998;28:578–584.
Chagani T, Pare PD, Zhu S, et al. Prevalence of tumor necrosis factor-alpha and angiotensin converting enzyme polymorphisms in mild/moderate and fatal/near-fatal asthma. Am J Respir Crit Care Med 1999;160:278–282.
Li Kam Wa TC, Mansur AH, Britton J, et al. Association between-308 tumour necrosis factor promoter polymorphism and bronchial hyperreactivity in asthma. Clin Exp Allergy 1999;29:1204–1208.
Noguchi E, Yokouchi Y, Shibasaki M, et al. Association between TNFA polymorphism and the development of asthma in the Japanese population. Am J Respir Crit Care Med 2002;166:43–46.
Witte JS, Palmer LJ, O’Connor RD, Hopkins PJ, Hall JM. Relation between tumour necrosis factor polymorphism TNFalpha-308 and risk of asthma. Eur J Hum Genet 2002;10:82–85.
Winchester EC, Millwood IY, Rand L, Penny MA, Kessling AM. Association of the TNF-alpha-308 (G→A) polymorphism with self-reported history of childhood asthma. Hum Genet 2000;107:591–596.
Sandford AJ, Shirakawa T, Moffatt MF, et al. Localisation of atopy and beta subunit of high-affinity IgE receptor (Fc epsilon RI) on chromosome 11q. Lancet 1993;341:332–334.
Shirakawa T, Mao XQ, Sasaki S, et al. Association between atopic asthma and a coding variant of Fc epsilon RI beta in a Japanese population. Hum Mol Genet 1996;5:1129, 1130.
Hill MR, James AL, Faux JA, et al. Fc epsilon RI-beta polymorphism and risk of atopy in a general population sample. Br Med J 1995;311:776–779.
van Herwerden L, Harrap SB, Wong ZY, et al. Linkage of high-affinity IgE receptor gene with bronchial hyperreactivity, even in absence of atopy. Lancet 1995;346:1262–1265.
Lin S, Cicala C, Scharenberg A, Kinet J. The Fc(epsilon)RIbeta subunit functions as an amplifier of Fc(epsilon)RIgamma-mediated cell activation signals. Cell 1996;85:985–995.
Turner H, Kinet JP. Signalling through the high-affinity IgE receptor Fc epsilonRI. Nature 1999; 402(6760 Suppl):B24–B30.
Donnadieu E, Cookson WO, Jouvin MH, Kinet JP. Allergy-associated polymorphisms of the FcɛaRIβ subunit do not impact its two amplification functions. J Immunol 2000;165:3917–3922.
Eiberg H, Lind P, Mohr J, Nielsen LS. Linkage relationship between the human immunoglobulin E polymorphism and marker systems. Cytogenet Cell Genet 1985;40:622.
Wiltshire S, Bhattacharyya S, Faux JA, et al. A genome scan for loci influencing total serum immunoglobulin levels: possible linkage of IgA to the chromosome 13 atopy locus. Hum Mol Genet 1998;7:27–31.
Anderson GG, Leaves NI, Bhattacharyya S, et al. Positive association to IgE levels and a physical map of the 13q14 atopy locus. Eur J Hum Genet 2002;10:266–270.
Oscier DG. Cytogenetic and molecular abnormalities in chronic lymphocytic leukaemia. Blood Rev 1994; 8:88–97.
Kalachikov S, Migliazza A, Cayanis E, et al. Cloning and gene mapping of the chromosome 13q14 region deleted in chronic lymphocytic leukemia. Genomics 1997;42:369–377.
Mabuchi H, Fujii H, Calin G, et al. Cloning and characterization of CLLD6, CLLD7, and CLLD8, novel candidate genes for leukemogenesis at chromosome 13q14, a region commonly deleted in B-cell chronic lymphocytic leukemia. Cancer Res 2001;61:2870–2877.
Rosenwasser L, Klemm D, Dresback J, et al. Promoter polymorphisms in the chromosome 5 gene cluster in asthma and atopy. Clin Exp Allergy 1995;25(Suppl 2): 74–78; discussion 95, 96.
Graves PE, Kabesch M, Halonen M, et al. Acluster 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.
Leung T, Tang N, Chan I, Li A, Ha G, Lam C. 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.
Noguchi E, Nukaga-Nishio Y, Jian Z, et al. Haplotypes of the 5% region of the IL-4 gene and SNPs in the intergene sequence between the IL-4 and IL-13 genes are associated with atopic asthma. Hum Immunol 2001;62: 1251–1257.
Howard T, Whittaker P, Zaiman A, et al. 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.
van der Pouw Kraan TC, van Veen A, Boeije LC, et al. An IL-13 promoter polymorphism associated with increased risk of allergic asthma. Genes Immun 1999;1:61–65.
Rioux J, Stone V, Daly M, et al. Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33. Am J Hum Genet 1998;63:1086–1094.
Chavanas S, Garner C, Bodemer C, et al. Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. Am J Hum Genet 2000;66:914–921.
Chavanas S, Bodemer C, Rochat A, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000;25:141–142.
Mägert HJ, Standker L, Kreutzmann P, et al. LEKTI, a novel 15-domain type of human serine proteinase inhibitor. J Biol Chem 1999;274:21,499–21,502.
Walley AJ, Chavanas S, Moffatt MF, et al. Gene polymorphism in Netherton and common atopic disease. Nat Genet 2001;29:175–178.
Kruse S, Japha T, Tedner M, et al. 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.
Ober C, Leavitt SA, Tsalenko A, et al. 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.
Kauppi P, Lindblad-Toh K, Sevon P, et al. A second-generation association study of the 5q31 cytokine gene cluster and the interleukin-4 receptor in asthma. Genomics 2001;77:35–42.
Risma KA, Wang N, Andrews RP, et al. V75R576 IL-4 receptor alpha is associated with allergic asthma and enhanced IL-4 receptor function. J Immunol 2002;169:1604–1610.
Weskamp G, Kratzschmar J, Reid MS, Blobel CP. MDC9, a widely expressed cellular disintegrin containing cytoplasmic SH3 ligand domains. J Cell Biol 1996;132:717–726.
Millichip MI, Dallas DJ, Wu E, Dale S, McKie N. The metallo-disintegrin ADAM10 (MADM) from bovine kidney has type IV collagenase activity in vitro. Biochem Biophys Res Commun 1998;245:594–598.
Becker K, Simon R, Bailey-Wilson J, et al. Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. Proc Natl Acad Sci USA 1998;95:9979–9984.
Laval SH, Timms A, Edwards S, et al. Whole-genome screening in ankylosing spondylitis: evidence of non-MHC genetic-susceptibility loci. Am J Hum Genet 2001;68:918–926.
Mein CA, Esposito L, Dunn MG, et al. A search for type 1 diabetes susceptibility genes in families from the United Kingdom. Nat Genet 1998;19:297–300.
Lindgren CM, Widen E, Tuomi T, et al. Contribution of known and unknown susceptibility genes to early-onset diabetes in scandinavia: evidence for heterogeneity. Diabetes 2002;51:1609–1617.
Hardwick L, Walsh S, Butcher S, et al. Genetic mapping of susceptibility loci in the genes involved in rheumatoid arthritis. J Rheumatol 1997;24:197–198.
Cox A, Camp NJ, Cannings C, et al. Combined sib-TDT and TDT provide evidence for linkage of the interleukin-1 gene cluster to erosive rheumatoid arthritis. Hum Mol Genet 1999;8:1707–1713.
Mansfield J, Holden H, Tarlow J, et al. Novel genetic association between ulcerative colitis and the anti-inflammatory cytokine interleukin-1 receptor antagonist. Gastroenterol 1994;106:637–642.
Satsangi J, Parkes M, Louis E, et al. Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. Nat Genet 1996;14:199–202.
Duerr RH, Barmada MM, Zhang L, et al. Linkage and association between inflammatory bowel disease and a locus on chromosome 12. Am J Hum Genet 1998;63:95–100.
Haines JL, Bradford Y, Garcia ME, et al. Multiple susceptibility loci for multiple sclerosis. Hum Mol Genet 2002;11:2251–2256.
Duerr RH, Barmada MM, Zhang L, Pfutzer R, Weeks DE. High-density genome scan in Crohn disease shows confirmed linkage to chromosome 14q11-12. Am J Hum Genet 2000;66:1857–1862.
Cox NJ, Wapelhorst B, Morrison VA, et al. Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. Am J Hum Genet 2001;69:820–830.
Lee YA, Wahn U, Kehrt R, et al. A major susceptibility locus for atopic dermatitis maps to chromosome 3q21. Nat Genet 2000;26:470–473.
Bradley M, Soderhall C, Luthman H, Wahlgren CF, Kockum I, Nordenskjold M. Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17 and 18 in a Swedish population. Hum Mol Genet 2002;11:1539–1548.
Beyer KWU, Freidhoff L, Nickel R, et al. Evidence for linkage of chromosome 5q31-q33 and 13q12-q14 markers to atopic dermatitis. J Allergy Clin Immunol 1998;101:152.
Camp R. Psoriasis. In: Champion R, Burton J, Burns D, Breathnach S, eds. Textbook of dermatology. Oxford: Blackwell Science, 1998:1589–1649.
Capon F, Novelli G, Semprini S, et al. Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1. J Invest Dermatol 1999;112:32–35.
Tomfohrde J, Silverman A, Barnes R, et al. Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. Science 1994;264:1141–1145.
Trembath R, Clough R, Rosbotham J, et al. Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis. Hum Mol Genet 1997; 6:813–820.
Enlund F, Samuelsson L, Enerback C, et al. Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden. Eur J Hum Genet 1999;7:783–790.
Farber E, Nall M, Watson W. Natural history of psoriasis in 61 twin pairs. Arch Dermatol 1974; 109:207–211.
Brandrup F, Hauge M, Henningsen K, Eriksen B. Psoriasis in an unselected series of twins. Arch Dermatol 1978;114:874–878.
De Sanctis GT, Merchant M, Beier DR, et al. Quantitative locus analysis of airway hyperresponsiveness in A/J and C57BL/6J mice. Nat Genet 1995;11:150–154.
Meyers DA, Postma DS, Panhuysen CI, et al. Evidence for a locus regulating total serum IgE levels mapping to chromosome 5. Genomics 1994;23:464–470.
Doull IJ, Lawrence S, Watson M, et al. Allelic association of gene markers on chromosomes 5q and 11q with atopy and bronchial hyperresponsiveness. Am J Respir Crit Care Med 1996;153:1280–1284.
Walley AJ, Wiltshire S, Ellis CM, Cookson WO. Linkage and allelic association of chromosome 5 cytokine cluster genetic markers with atopy and asthma associated traits. Genomics 2001;72:15–20.
Zhang Y, Lefort J, Kearsey V, Lapa e Silva JR, Cookson WO, Vargaftig BB. A genome-wide screen for asthma-associated quantitative trait loci in a mouse model of allergic asthma. Hum Mol Genet 1999;8: 601–605.
Nickel R, Wahn U, Hizawa N, et al. 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.
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:p389–p392.
Prows DR, Shertzer HG, Daly MJ, Sidman CL, Leikauf GD. Genetic analysis of ozone-induced acute lung injury in sensitive and resistant strains of mice. Nat Genet 1997;17:471–474.
Kleeberger SR, Levitt RC, Zhang LY, et al. Linkage analysis of susceptibility to ozone-induced lung inflammation in inbred mice. Nat Genet 1997;17:475–478.
Kermarrec N, Dubay C, De Gouyon B, et al. Serum IgE concentration and other immune manifestations of treatment with gold salts are linked to the MHC and IL4 regions in the rat. Genomics 1996;31:111–114.
Ewart SL, Kuperman D, Schadt E, et al. Quantitative trait loci controlling allergen-induced airway hyperresponsiveness in inbred mice. Am J Respir Cell Mol Biol 2000;23:537–545.
Laitinen T, Ollikainen V, Lazaro C, et al. Association study of the chromosomal region containing the FCER2 gene suggests it has a regulatory role in atopic disorders. Am J Respir Crit Care Med 2000;161:700–706.
Matsuda H, Watanabe N, Geba GP, et al. Development of atopic dermatitis-like skin lesion with IgE hyperproduction in NC/Nga mice. Int Immunol 1997;9:461–466.
Iwasaki T, Tanaka A, Itakura A, et al. Atopic NC/Nga mice as a model for allergic asthma: severe allergic responses by single intranasal challenge with protein antigen. J Vet Med Sci 2001;63:413–419.
Kohara Y, Tanabe K, Matsuoka K, et al. A major determinant quantitative-trait locus responsible for atopic dermatitis-like skin lesions in NC/Nga mice is located on chromosome 9. Immunogenetics 2001;53:15–21.
Kurz T, Strauch K, Heinzmann A, et al. A European study on the genetics of mite sensitization. J Allergy Clin Immunol 2000;106:925–932.
Natori K, Tamari M, Watanabe O, et al. Mapping of a gene responsible for dermatitis in NOA (Naruto Research Institute Otsuka Atrichia) mice, an animal model of allergic dermatitis. J Hum Genet 1999;44:372–376.
Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996; 273(5281):1516, 1517.
Lander ES. The new genomics: global views of biology [see comments]. Science 1996;274:536–539.
Collins FS, Guyer MS, Charkravarti A. Variations on a theme: cataloging human DNA sequence variation. Science 1997;278(5343):1580, 1581.
Lai E, Riley J, Purvis I, Roses A. A 4-Mb high-density single nucleotide polymorphism-based map around human APOE. Genomics 1998;54:31–38.
Kruglyak L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat Genet 1999;22:139–144.
Collins A, Lonjou C, Morton NE. Genetic epidemiology of single-nucleotide polymorphisms. Proc Natl Acad Sci USA 1999;96:15,173–15,177.
Huttley GA, Smith MW, Carrington M, O’Brien SJ. A scan for linkage disequilibrium across the human genome. Genetics 1999;152:1711–1722.
Kidd JR, Pakstis AJ, Zhao H, et al. Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations. Am J Hum Genet 2000;66:1882–1899.
Goddard KA, Hopkins PJ, Hall JM, Witte JS. Linkage disequilibrium and allele-frequency distributions for 114 single-nucleotide polymorphisms in five populations. Am J Hum Genet 2000;66:216–234.
Jorde LB, Watkins WS, Carlson M, et al. Linkage disequilibrium predicts physical distance in the adenomatous polyposis coli region [see comments]. Am J Hum Genet 1994;54:884–898.
Clark AG, Weiss KM, Nickerson DA, et al. Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet 1998;63:595–612.
Rieder MJ, Taylor SL, Clark AG, Nickerson DA. Sequence variation in the human angiotensin converting enzyme. Nat Genet 1999;22:59–62.
Moffatt MF, Traherne JA, Abecasis GR, Cookson WO. Single nucleotide polymorphism and linkage disequilibrium within the TCR alpha/delta locus. Hum Mol Genet 2000;9:1011–1019.
Templeton AR, Clark AG, Weiss KM, Nickerson DA, Boerwinkle E, Sing CF. Recombinational and mutational hotspots within the human lipoprotein lipase gene. Am J Hum Genet 2000;66:69–83.
Abecasis GR, Noguchi E, Heinzmann A, et al. Extent and Distribution of Linkage disequilibrium in three genomic regions. Am J Hum Genet 2001;68: 191–197.
Hedrick PW. Gametic disequilibrium measures: proceed with caution. Genetics 1987;117:331–341.
Devlin B, Risch N. A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics 1995;29:311–322.
Abecasis GR, Cookson WO, Cardon LR. The power to detect linkage disequilibrium with quantitative traits in selected samples. Am J Hum Genet 2001;68:1463–1474.
Daly MJ, Rioux JD, Schaffner SF, Hudson TJ, Lander ES. High-resolution haplotype structure in the human genome. Nat Genet 2001;29: 229–232.
Gabriel SB, Schaffner SF, Nguyen H, et al. The structure of haplotype blocks in the human genome. Science 2002;296:2225–2229.
Muller-Myhsok B, Abel L. Genetic analysis of complex diseases [letter; comment]. Science 1997;275: 1328, 1329; discussion 1329, 1330.
Tu IP, Whittemore AS. Power of association and linkage tests when the disease alleles are unobserved. Am J Hum Genet 1999;64:641–649.
Weissenbach J, Gypay G, Dib C, et al. A second generation linkage map of the human genome. Nature 1992;359:794–801.
George VT, Elston RC. Testing the association between polymorphic markers and quantitative traits in pedigrees. Genet Epidemiol 1987;4:193–201.
Terwilliger JD, Ott J. A haplotype-based ‘haplotype relative risk’ approach to detecting allelic associations. Hum Hered 1992;42:337–346.
Chakravarti A. Population genetics-making sense out of sequence. Nat Genet 1999;21(1 Suppl): 56–60.
Reich DE, Lander ES. On the allelic spectrum of human disease. Trends Genet 2001;17:502–510.
Kruglyak L, Nickerson DA. Variation is the spice of life. Nat Genet 2001;27:234–246.
Farrall M, Keavney B, McKenzie C, Delepine M, Matsuda F, Lathrop GM. Fine-mapping of an ancestral recombination breakpoint in DCP1 [Letter]. Nat Genet 1999;23:270, 271.
Morris RW, Kaplan NL. On the advantage of haplotype analysis in the presence of multiple disease susceptibility alleles. Genet Epidemiol 2002;23:221–233.
Sobel E, Lange K. Descent graphs in pedigree analysis: applications to haplotyping location scores, and marker-sharing statistics. Am J Hum Genet 1996;58:1323–1337.
Abecasis GR, Cookson WO. GOLD-graphical overview of linkage disequilibrium. Bioinformatics 2000; 16(2):182, 183.
Larsen F, Gundersen G, Lopez R, Prydz H. CpG islands as gene markers in the human genome. Genomics 1992;13:1095–1107.
Prestridge DS. Predicting Pol II promoter sequences using transcription factor binding sites. J Mol Biol 1995;249:923–932.
Xu Y, Mural RJ, Uberbacher EC. Constructing gene models from accurately predicted exons: an application of dynamic programming. Comput Appl Biosci 1994;10:613–623.
Burge C, Karlin S. Prediction of complete gene structures in human genomic DNA. J Mol Biol 1997; 268:78–94.
Snyder EE, Stormo GD. Identification of coding regions in genomic DNA sequences: an application of dynamic programming and neural networks. Nucleic Acids Res 1993;21:607–613.
Zhang MQ. Identification of protein coding regions in the human genome by quadratic discriminant analysis. Proc Natl Acad Sci USA 1997;94: 565–568.
Altschul SF, Madden TL, Schaffer AA, et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 1997;25:3389–3402.
Schultz J, Copley RR, Doerks T, Ponting CP, Bork P. SMART: a web-based tool for the study of genetically mobile domains. Nucleic Acids Res 2000;28:231–234.
Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease. Nature 2001;411:599–603.
Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn’s disease. Nature 2001;411:603–606.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2005 Humana Press Inc., Totowa, NJ
About this chapter
Cite this chapter
Cookson, W. (2005). Asthma Genetics. In: Peltz, G. (eds) Computational Genetics and Genomics. Humana Press. https://doi.org/10.1007/978-1-59259-930-1_11
Download citation
DOI: https://doi.org/10.1007/978-1-59259-930-1_11
Publisher Name: Humana Press
Print ISBN: 978-1-58829-187-5
Online ISBN: 978-1-59259-930-1
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)