Publications
396 results found
Wakeland EK, Goodnow CC, Kuchroo VK, et al., 2005, Discussion, Pages: 212-218, ISSN: 1528-2511
Goldstein DB, Abbas AK, Wijmenga C, et al., 2005, Discussion, Pages: 8-13, ISSN: 1528-2511
Wakeland EK, Goodnow CC, Cookson W, et al., 2005, Discussion, Pages: 239-241, ISSN: 1528-2511
Hafler DA, Rao A, Ting J, et al., 2005, Discussion, Pages: 174-179, ISSN: 1528-2511
Ting J, Wakeland EK, Wijmenga C, et al., 2005, Discussion, Pages: 88-93, ISSN: 1528-2511
Abbas AK, Cookson W, Foote SJ, et al., 2005, Discussion, Pages: 52-56, ISSN: 1528-2511
McGovern DPB, Hysi P, Ahmad T, et al., 2005, Association between a complex insertion/deletion polymorphism in <i>NOD1</i> (<i>CARD4</i>) and susceptibility to inflammatory bowel disease, HUMAN MOLECULAR GENETICS, Vol: 14, Pages: 1245-1250, ISSN: 0964-6906
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- Citations: 253
Hysi P, Kabesch M, Moffatt MF, et al., 2005, NOD1 variation, immunoglobulin E and asthma, Human Molecular Genetics, Vol: 14, Pages: 935-941, ISSN: 1460-2083
Asthma is a familial inflammatory disease of the airways of the lung. Microbial exposures in childhood protectagainst asthma through unknown mechanisms. The innate immune system is able to identify microbial componentsthrough a variety of pattern-recognition receptors (PRRs). NOD1 is an intracellular PRR that initiatesinflammation in response to bacterial diaminopimelic acid (iE-DAP). The NOD1 gene is on chromosome 7p14, ina region that has been genetically linked to asthma. We carried out a systematic search for polymorphism in thegene. We found an insertion–deletion polymorphism (ND1 1 32656) near the beginning of intron IX thataccounted for 7% of the variation in IgE in two panels of families (P < 0.0005 in each). Allele*2 (the insertion)was associated with high IgE levels. The same allele was strongly associated with asthma in an independentstudy of 600 asthmatic children and 1194 super-normal controls [odds ratio (OR) 6.3; 95% confidence interval(CI) 1.4–28.3, dominant model]. Differential binding of the two ND1 1 32656 alleles was observed to a proteinfrom nuclei of the Calu 3 epithelial cell line. In an accompanying study, the deletion allele (ND1 1 32656*1)was found to be associated with inflammatory bowel disease. The results indicate that intracellular recognitionof specific bacterial products affects the presence of childhood asthma.
Street TL, Hayden PJ, Hao L, et al., 2005, Analysis of global gene expression profile changes during differentiation of the EpiDerM™ <i>in vitro</i> human skin equivalent, 66th Annual Meeting of the Society-for-Investigative-Dermatology, Publisher: BLACKWELL PUBLISHING INC, Pages: A79-A79, ISSN: 0022-202X
Cookson W, 2005, Asthma genetics: A case study, Computational Genetics and Genomics: Tools for Understanding Disease, Pages: 269-299, ISBN: 9781588291875
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).
Cookson W, 2004, The immunogenetics of asthma and eczema: A new focus on the epithelium, NATURE REVIEWS IMMUNOLOGY, Vol: 4, Pages: 978-988, ISSN: 1474-1733
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- Citations: 293
Weiland SK, Björkstén B, Brunekreef B, et al., 2004, Phase II of the international study of asthma and allergies in childhood (ISAAC II):: rationale and methods, EUROPEAN RESPIRATORY JOURNAL, Vol: 24, Pages: 406-412, ISSN: 0903-1936
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- Citations: 336
Bowcock AM, Cookson WOCM, 2004, The genetics of psoriasis, psoriatic arthritis and atopic dermatitis, Human Molecular Genetics, Vol: 13, ISSN: 0964-6906
Psoriasis and atopic dermatitis are chronic and relapsing inflammatory diseases of the skin associated with various immunologic abnormalities. Approximately 30% of psoriasis patients also have joint involvement, indicative of psoriatic arthritis. Genes and environment play a key role in the pathogenesis of these diseases. Genome-wide linkage scans have identified multiple loci linked to each disease and revealed overlap with psoriasis and atopic dermatitis susceptibility loci on chromosomes 1q21, 3q21, 17q25 and 20p12. The genes from these loci have not yet all been identified, or systematically tested for a role in psoriasis and atopic dermatitis; however, these locations suggest that some susceptibility factors lie within genes or gene families with common effects upon epithelial immunity. A strong HLA association is described for psoriasis, but not for atopic dermatitis. Knowledge of the genetic factors leading to these diseases will lead to an understanding of their variable age at onset, their waxing and waning and the variability of body surface environment. The effect of environmental triggers may also be understood once the altered pathways are elucidated. Genes implicated so far in atopic dermatitis are SPINK5, FcERI-β and PHF11. Genes implicated in psoriasis so far are HLA-C, SLC9A3R1, NAT9, RAPTOR and SLC12A8. Genetic modifiers such as CARD15 may predispose to psoriatic arthritis. © Oxford University Press 2004; all rights reserved.
Bowcock AM, Cookson WOCM, 2004, The genetics of psoriasis, psoriatic arthritis and atopic dermatitis, HUMAN MOLECULAR GENETICS, Vol: 13, Pages: R43-R55, ISSN: 0964-6906
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- Citations: 197
Cookson W, Moffatt M, 2004, Making sense of asthma genes., N Engl J Med, Vol: 351, Pages: 1794-1796
Cookson W, 2003, July 1957 (from the trifler) section: Rock -Drill, Agenda, Vol: 39, ISSN: 0002-0796
Allen M, Heinzmann A, Noguchi E, et al., 2003, Positional cloning of a novel gene influencing asthma from Chromosome 2q14, NATURE GENETICS, Vol: 35, Pages: 258-263, ISSN: 1061-4036
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- Citations: 247
Traherne JA, Hill MR, D'Amato M, et al., 2003, LD mapping of maternally and non-maternally derived alleles and atopy in <i>FcεRI-</i>β, HUMAN MOLECULAR GENETICS, Vol: 12, Pages: 2577-2585, ISSN: 0964-6906
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- Citations: 35
Zhang Y, Leaves NI, Anderson GG, et al., 2003, Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma, Nature Genetics, Vol: 34, Pages: 181-186, ISSN: 1061-4036
Atopic or immunoglobulin E (IgE)-mediated diseases include the common disorders of asthma, atopic dermatitis and allergic rhinitis1. Chromosome 13q14 shows consistent linkage to atopy and the total serum IgE concentration2,3,4,5,6. We previously identified association between total serum IgE levels and a novel 13q14 microsatellite (USAT24G1; ref. 7) and have now localized the underlying quantitative-trait locus (QTL) in a comprehensive single-nucleotide polymorphism (SNP) map. We found replicated association to IgE levels that was attributed to several alleles in a single gene, PHF11. We also found association with these variants to severe clinical asthma. The gene product (PHF11) contains two PHD zinc fingers and probably regulates transcription. Distinctive splice variants were expressed in immune tissues and cells.
Donnadieu E, Jouvin MH, Rana S, et al., 2003, Competing functions encoded in the allergy-associated <i>Fc</i>ε<i>RI</i>β gene, IMMUNITY, Vol: 18, Pages: 665-674, ISSN: 1074-7613
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- Citations: 56
Cookson W, 2003, A new gene for asthma: would you ADAM and Eve it?, TRENDS IN GENETICS, Vol: 19, Pages: 169-172, ISSN: 0168-9525
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- Citations: 20
Moffatt MF, Faux JA, Lester S, et al., 2003, Atopy, respiratory function and HLA-DR in aboriginal Australians, HUMAN MOLECULAR GENETICS, Vol: 12, Pages: 625-630, ISSN: 0964-6906
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- Citations: 24
Moffatt MF, Faux JA, Lester S, et al., 2003, Atopy, respiratory function and HLA-DR in aboriginal Australians, Human Molecular Genetics, Vol: 12, Pages: 625-630, ISSN: 0964-6906
The Class II genes of the MHC represent a major locus with quantified effects on atopic (allergic) phenotypes in many studies of westernized Caucasians. Although asthma is considered a disease of western societies, typical components of the asthma phenotype, such as elevations of the IgE, are seen with parasitic infestation. We have therefore investigated the effects of the HLA-DRB1 locus on asthma and its intermediate phenotypes in Aboriginal people from the Kimberly region of Australia who were suffering from endemic hookworm infection. Recognizable correlates of allergic asthma were present in the subjects, including skin test positivity to house dust mite (HDM), specific IgE responses to HDM, and the total serum IgE. HLA-DRB1 alleles did not predict the presence of asthma, but multi-allelic tests of association showed the locus accounted for ∼33% of the variance of the total serum IgE concentration and 17% of the variance of the specific IgE titres to HDM. Genetic admixture was excluded as a cause of the results. These effects of the MHC on IgE levels were an order of magnitude greater than that seen in Caucasians, consistent with the hypothesis that the genetic predisposition to allergic disease may be driven by adaptation to helminth infection. The results further suggest that parasitism per se is not protective against asthma.
Cookson W, 2002, Genetics and genomics of asthma and allergic diseases, IMMUNOLOGICAL REVIEWS, Vol: 190, Pages: 195-206, ISSN: 0105-2896
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- Citations: 84
Cookson WOCM, Harper JI, Moffatt MF, 2002, Genetics of atopic dermatitis, Immunology and Allergy Clinics of North America, Vol: 22, Pages: 199-209, ISSN: 0889-8561
Even though the comprehension of the genetics of AD is at an early stage, further studies offer the promise of a greater understanding. The preliminary findings emphasize the importance of the skin as a barrier and suggest that the atopy that accompanies AD might be as much a secondary phenomenon as a primary phenomenon. The barrier function of the skin is not merely passive, and the skin maintains a specific immunologic environment, referred to as the skin immune system [76]. The skin immune system is characterized by the presence of a dense network of dendritic, antigen-presenting cells (Langerhan's cells) in the epidermis and perivascular localization of T lymphocytes that are activated even in the skin of normal individuals [76,77]. The polymorphic nature of genes and gene families expressed in the skin suggest a polyvalent response to a number of different stimuli, including infections. It is possible that some of these proteins might have unrecognized anti-infective properties. The recognition of the importance of genetic effects to AD, together with advances in the understanding and technology of complex genetics, will result in a new understanding of AD.
Anderson GG, Leaves NI, Bhattacharyya S, et al., 2002, Positive association to IgE levels and a physical map of the 13q14 atopy locus, EUROPEAN JOURNAL OF HUMAN GENETICS, Vol: 10, Pages: 266-270, ISSN: 1018-4813
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- Citations: 22
Anderson GG, Leaves NI, Bhattacharyya S, et al., 2002, Positive association to IgE levels and a physical map of the 13q14 atopy locus., Eur J Hum Genet, Vol: 10, Pages: 266-270, ISSN: 1018-4813
Linkage of atopy and associated traits to a locus on chromosome 13q14 has been identified by several studies in diverse populations. We have previously shown the putative atopy gene to be contained within an interval of approximately 5 Mb flanked by D13S328 and D13S1269 and centred on D13S273. We have now extended this work using a top-down approach to physical mapping. A YAC contig was constructed covering the D13S328 and D13S1269 interval. Thirty-one ESTs were mapped to the contig. We constructed a BAC and PAC contig flanking D13S273 by approximately 750 kb in either direction. The interval contained 27 of the 31 ESTS from the YAC contig. Seven previously unknown microsatellites were recovered and then typed in two subject panels. A positive association between the total serum Immunoglobulin E concentration and the novel USAT24G1 microsatellite was discovered (P(corrected)<0.005) and replicated in a second panel of families. The discovery of a region of positive association within the BAC/PAC contig will permit identification of the atopy gene from this locus.
Cookson WOC, 2002, Asthma genetics, 44th Annual Thomas L Petty Aspen Lung Conference, Publisher: ELSEVIER SCIENCE BV, Pages: 7S-13S, ISSN: 0012-3692
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- Citations: 66
Leaves NI, Bhattacharyya S, Wiltshire S, et al., 2002, A detailed genetic map of the chromosome 7 bronchial hyper-responsiveness locus, EUROPEAN JOURNAL OF HUMAN GENETICS, Vol: 10, Pages: 177-182, ISSN: 1018-4813
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- Citations: 13
Leaves NI, Bhattacharyya S, Wiltshire S, et al., 2002, A detailed genetic map of the chromosome 7 bronchial hyper-responsiveness locus., Eur J Hum Genet, Vol: 10, Pages: 177-182, ISSN: 1018-4813
Non-specific bronchial hyper-responsiveness to various inhaled stimuli is a characteristic of asthma. We have previously shown linkage of bronchial responsiveness to methacholine (measured as dose-response slope (DRS)) and the peripheral blood eosinophil count (EOS) to chromosome 7. We have now further investigated these linkages by genotyping 49 microsatellite markers across the DRS locus on chromosome 7. The markers were spaced on average 2.6 cM apart and spanned a sex averaged cumulative genetic distance of 129 cM. Multipoint linkage to DRS was bimodal and dipped at the centromere. The two peaks of linkage were close to markers D7S484 (P=0.0003) and D7S669 (P=0.006) respectively. Separate testing for linkage to paternally and maternally derived alleles showed that the linkage near D7S484 was paternally derived (P<0.00001): maternally derived alleles did not exhibit significant linkage. The results indicate that two disparate loci may be influencing asthma from chromosome 7.
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