asthma, cat allergens, 12q24; total and specific IgE; Siberian population
Abstract :
[en] In Russian population of Siberia asthma is usually concomitant with high sensitization to indoor allergens
(cat, dog and house dust mites), overproduction of total immunoglobulin E (IgE) and airway hyperreactivity.
Definition of genes that predispose to development of various sub-components of the asthma
phenotype is important for understanding of etiology of this disease. To map genes predisposing to
asthma,we tested 21 microsatellite markers from candidate chromosomal regions in 136 Russian nuclear
families with asthma from Siberia.We performed non-parametric analysis for linkage with asthma, total
IgE, specific IgE to cat, dog, and dust mites, and spirometric indices (FEV1 (%) – percentage of predicted
forced expiratory volume in 1 s, FVC (%) – percentage of predicted forced vital capacity, and FEV1/FVC (%)
– Tiffenau index). The most significant linkagewas to the candidate region on chromosome 12. Locus controlling
cat-specific IgE, which is the most abundant in asthma patients fromSiberian population, mapped
within the interval between 136 and 140 cM on chromosome 12q24.3, with the suggestive linkage at the
marker D12S1611 (LOD= 2.23, P = 0.0007). Total IgE was also linked to this region (D12S1611 – LOD= 1.12,
P = 0.012). FEV1 (%) exceeded LOD> 1 threshold for significance with the same locus 12q24.3, but with the
peak at a more proximal region at 111.87cM (D12S338 – LOD= 1.21, P = 0.009). Some evidence of linkage
(LOD> 1.0) was also detected for asthma at 6p21.31 (D6S291) and total IgE at 13q14.2 (D13S165). These
data indicate that the locus 12q24.3 is the most promising candidate for identification of asthma genes
in Russian population of Siberia.
Disciplines :
Genetics & genetic processes
Author, co-author :
Gusareva, Elena ; Université de Liège - ULiège > Dép. d'électric., électron. et informat. (Inst.Montefiore) > Bioinformatique
Bragina, Elena; Research Institute of Medical Genetics, Tomsk, Russia > Population Genetics
Buinova, Svetlana; Irkutsk State Institute for Post-graduate Medical Education, Irkutsk, Russia > Department of Allergology and Pulmonology
Chernyak, Boris; Irkutsk State Institute for Post-graduate Medical Education, Irkutsk, Russia > Department of Allergology and Pulmonology
Puzyrev, Valery; Research Institute of Medical Genetics, Tomsk, Russia > Population genetics
Ogorodova, Ludmila; Siberian State Medical University, Tomsk, Russia > Medical Genetics
Lipoldová, Marie; Institute of Molecular Genetics v.v.i., AS CR, Prague, Czech Repub > Dep. of Molecular and Cellular Immunology
Language :
English
Title :
Chromosome 12q24.3 controls sensitization to cat allergen in patients with asthma from Siberia, Russia
Publication date :
30 June 2009
Journal title :
Immunology Letters
ISSN :
0165-2478
eISSN :
1879-0542
Publisher :
Elsevier, Amsterdam, Netherlands
Volume :
125
Issue :
1
Pages :
1-6
Peer reviewed :
Peer Reviewed verified by ORBi
Name of the research project :
Impact of genetic and environmental factors on development of atopy and allergic diseases in human populations
Wills-Karp M., and Ewart S.L. Time to draw breath: asthma-susceptibility genes are identified. Nat Rev Genet 5 (2004) 376-387
Xu J., Postma D.S., Howard T.D., Koppelman G.H., Zheng S.L., Stine O.C., et al. Major genes regulating total serum immunoglobulin E in families with asthma. Am J Hum Genet 67 (2000) 1163-1173
Yokouchi Y., Nukaga Y., Shibasaki M., Noguchi E., Kimura K., Ito S., et al. 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 66 (2000) 152-160
Haagerup A., Bjerke T., Schiotz P.O., Binderup H.G., Dahl R., and Kruse T.A. Asthma and atopy - a total genome scan for susceptibility genes. Allergy 57 (2002) 680-686
Koppelman G.H., Stine O.C., Xu J., Howard T.D., Zheng S.L., Kauffman H.F., et al. Genome-wide search for atopy susceptibility genes in Dutch families with asthma. J Allergy Clin Immunol 109 (2002) 498-506
Yokouchi Y., Shibasaki M., Noguchi E., Nakayama J., Ohtsuki T., Kamioka M., et al. A genome-wide linkage analysis of orchard grass-sensitive childhood seasonal allergic rhinitis in Japanese families. Genes Immun 3 (2002) 9-13
Daniels S.E., Bhattacharrya S., James A., Leaves N.I., Young A., Hill M.R., et al. A genome-wide search for quantitative trait loci underlying asthma. Nature 383 (1996) 247-250
Wjst M., Fischer G., Immervoll T., Jung M., Saar K., Rueschendorf F., et al. A genome-wide search for linkage to asthma. Genomics 58 (1999) 1-8
Ferreira M.A., O'Gorman L., Le Souëf P., Burton P.R., Toelle B.G., Robertson C.F., et al. Robust estimation of experimentwise P values applied to a genome scan of multiple asthma traits identifies a new region of significant linkage on chromosome 20q13. Am J Hum Genet 77 (2005) 1075-1085
Laitinen T., Daly M.J., Rioux J.D., Kauppi P., Laprise C., Petäys T., et al. A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population. Nat Genet 28 (2001) 87-91
Shugart Y.Y., Specchia C., Li H.H., Doan B.Q., Mathias R.A., and Devoto M. Comparison of sib pair-based approaches for identifying quantitative trait loci underlying asthma in the Busselton families. Genet Epidemiol 1 (2001) 198-203
Altmüller J., Seidel C., Lee Y.A., Loesgen S., Bulle D., Friedrichs F., et al. Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families. BMC Pulm Med 5 (2005) 1
Barnes K.C., Neely J.D., Duffy D.L., Freidhoff L.R., Breazeale D.R., Schou C., et al. Linkage of asthma and total serum IgE concentration to markers on chromosome 12q: evidence from Afro-Caribbean and Caucasian populations. Genomics 37 (1996) 41-50
Nickel R., Wahn U., Hizawa N., Maestri N., Duffy D.L., Barnes K.C., 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 46 (1997) 159-162
Wilkinson J., Grimley S., Collins A., Thomas N.S., Holgate S.T., and Morton N. Linkage of asthma to markers on chromosome 12 in a sample of 240 families using quantitative phenotype scores. Genomics 53 (1998) 251-259
Brasch-Andersen C., Tan Q., Børglum A.D., Haagerup A., Larsen T.R., Vestbo J., et al. Significant linkage to chromosome 12q24.32-q24.33 and identification of SFRS8 as a possible asthma susceptibility gene. Thorax 61 (2006) 874-879
Celedón J.C., Soto-Quiros M.E., Avila L., Lake S.L., Liang C., Fournier E., et al. Significant linkage to airway responsiveness on chromosome 12q24 in families of children with asthma in Costa Rica. Hum Genet 120 (2007) 691-699
Ober C., Tsalenko A., Parry R., and Cox N.J. A second-generation genomewide screen for asthma-susceptibility alleles in a founder population. Am J Hum Genet 67 (2000) 1154-1162
Kurz T., Strauch K., Heinzmann A., Braun S., Jung M., Ruschendorf F., et al. European study on the genetics of mite sensitisation. J Allergy Clin Immunol 106 (2000) 925-932
Allen M., Heinzmann A., Noguchi E., Abecasis G., Broxholme J., Ponting C.P., et al. Positional cloning of a novel gene influencing asthma from chromosome 2q14. Nat Genet 35 (2003) 258-263
Howard T.D., Postma D.S., Hawkins G.A., Koppelman G.H., Zheng S.L., Wysong A.K., et al. Fine mapping of an IgE-controlling gene on chromosome 2q: analysis of CTLA4 and CD28. J Allergy Clin Immunol 110 (2002) 743-751
Whittaker P.A. What is the relevance of bioinformatics to pharmacology?. Trends Pharmacol Sci 24 (2003) 434-439
Laitinen T., Polvi A., Rydman P., Vendelin J., Pulkkinen V., Salmikangas P., et al. Characterization of a common susceptibility locus for asthma-related traits. Science 304 (2004) 300-304
Zhang Y., Leaves N.I., Anderson G.G., Ponting C.P., Broxholme J., Holt R., et al. Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma. Nat Genet 34 (2003) 181-186
van Eerdewegh P., Little R.D., Dupuis J., Del Mastro R.G., Falls K., Simon J., et al. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 418 (2002) 426-430
Moffatt M.F., Kabesch M., Liang L., Dixon A.L., Strachan D., Heath S., et al. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 448 (2007) 470-473
Ober C., Tan Z., Sun Y., Possick J.D., Pan L., Nicolae R., et al. Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function. N Engl J Med 358 (2008) 1682-1691
Gusareva E.S., Bragina E.J., Deeva E.V., Kazakevich N.V., Puzyrev V.P., Ogorodova L.M., et al. Cat is a major allergen in patients with asthma from west Siberia, Russia. Allergy 61 (2006) 509-510
Hugg T.T., Jaakkola M.S., Ruotsalainen R., Pushkarev V., and Jaakkola J.J. Exposure to animals and the risk of allergic asthma: a population-based cross-sectional study in Finnish and Russian children. Environ Health 7 (2008) 28
Quanjer P.H., Tammeling G.J., Cotes J.E., Pedersen O.F., Peslin R., and Yernault J.C. Lung volumes and forced ventilatory flows. Report working party standardization of lung function tests, European community for steel and coal. Official Statement of the European Respiratory Society. Eur Respir J Suppl 16 (1993) 5-40
Adra C.N., Mao X.Q., Kawada H., Gao P.S., Korzycka B., Donate J.L., et al. Chromosome 11q13 and atopic asthma. Clin Genet 55 (1999) 431-437
Venanzi S., Malerba G., Galavotti R., Lauciello M.C., Trabetti E., Zanoni G., et al. Linkage to atopy on chromosome 19 in north-eastern Italian families with allergic asthma. Clin Exp Allergy 31 (2001) 1220-1224
Raby B.A., Silverman E.K., Lazarus R., Lange C., Kwiatkowski D.J., and Weiss S.T. Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes. Hum Mol Genet 12 (2003) 1973-1979
Gusareva E.S., Havelková H., Blažková H., Kosařová M., Kučera P., Král V., et al. Mouse to human comparative genetics reveals a novel immunoglobulin E - controlling locus on Hsa8q12. Immunogenetics 61 (2009) 15-25
Kong A., and Cox N.J. Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 61 (1997) 1179-1188
Whittemore A.S., and Halpern J. A class of tests for linkage using affected pedigree members. Biometrics 50 (1994) 118-127
Abecasis G.R., Cherny S.S., Cookson W.O., and Cardon L.R. Merlin - rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30 (2002) 97-101
Dizier M.H., Besse-Schmittler C., Guilloud-Bataille M., Annesi-Maesano I., Boussaha M., Bousquet J., et al. Genome screen for asthma and related phenotypes in the French EGEA study. Am J Respir Crit Care Med 162 (2000) 1812-1818
Malerba G., Lauciello M.C., Scherpbier T., Trabetti E., Galavotti R., Cusin V., et al. Linkage analysis of chromosome 12 markers in Italian families with atopic asthmatic children. Am J Respir Crit Care Med 162 (2000) 1587-1590
Barnes K.C., Mathias R.A., Nickel R., Freidhoff L.R., Stockton M.L., Xue X., et al. Testing for gene-gene interaction controlling total IgE in families from Barbados: evidence of sensitivity regarding linkage heterogeneity among families. Genomics 71 (2001) 246-251
Pillai S.G., Chiano M.N., White N.J., Speer M., Barnes K.C., Carlsen K., et al. A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p. Eur J Hum Genet 14 (2006) 307-316 [erratum in: Eur J Hum Genet 2007;15:714]
Gusareva E.S., Ogorodova L.M., Chernyak B.A., and Lipoldová M. Relationship between total and specific IgE in patients with asthma from Siberia. J Allergy Clin Immunol 121 (2008) 781
Piavaux B., Jeurink P.V., Groot P.C., Hofman G.A., Demant P., and Van Oosterhout A.J. Mouse genetic model for antigen-induced airway manifestations of asthma. Genes Immun 8 (2007) 28-34
Neis M.M., Peters B., Dreuw A., Wenzel J., Bieber T., Mauch C., et al. Enhanced expression levels of IL-31 correlate with IL-4 and IL-31 in atopic and allergic contact dermatitis. J Allergy Clin Immunol 118 (2006) 930-937
Lei Z., Liu G., Huang Q., Lv M., Zu R., Zhang G.M., et al. SCF and IL-31 rather than IL-17 and BAFF are potential indicators in patients with allergic asthma. Allergy 63 (2008) 327-332
Ip W.K., Wong C.K., Li M.L., Li P.W., Cheung P.F., and Lam C.W. Interleukin-31 induces cytokine and chemokine production from human bronchial epithelial cells through activation of mitogen-activated protein kinase signalling pathways: implications for the allergic response. Immunology 122 (2007) 532-541
Holgate S.T. The genetic basis of allergic disease. In: Holgate S.T., Church M.K., and Lichtenstein L.M. (Eds). Allergy. third ed. (2006), Elsevier Ltd. 205-221
Luster A.D., and Tager A.M. T-cell trafficking in asthma: lipid mediators grease the way. Nat Rev Immunol 4 (2004) 711-724
Glass C.K., and Ogawa S. Combinatorial roles of nuclear receptors in inflammation and immunity. Nat Rev Immunol 6 (2006) 44-55
Liu Y.C., Penninger J., and Karin M. Immunity by ubiquitylation: a reversible process of modification. Nat Rev Immunol 5 (2005) 941-952
Hizawa N., Freidhoff L.R., Ehrlich E., Chiu Y.F., Duffy D.L., Schou C., et al. 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 102 (1998) 449-453
Moffatt M.F., Schou C., Faux J.A., Abecasis G.R., James A., Musk A.W., et al. Association between quantitative traits underlying asthma and the HLA-DRB1 locus in a family-based population sample. Eur J Hum Genet 9 (2001) 341-346
Liu X., Beaty T.H., Deindl P., Huang S.K., Lau S., Sommerfeld C., et al. Associations between specific serum IgE response and 6 variants within the genes IL4, IL13, and IL4RA in German children: the German Multicenter Atopy Study. J Allergy Clin Immunol 113 (2004) 489-495
Leung T.F., Tang N.L., Lam C.W., Li A.M., Fung S.L., Chan I.H., et al. RANTES G-401A polymorphism is associated with allergen sensitization and FEV1 in Chinese children. Respir Med 99 (2005) 216-219
Leung T.F., Tang N.L., Lam C.W., Li A.M., Chan I.H., and Ha G. Thromboxane A2 receptor gene polymorphism is associated with the serum concentration of cat-specific immunoglobulin E as well as the development and severity of asthma in Chinese children. Pediatr Allergy Immunol 13 (2002) 10-17
