Genetic polymorphisms and asthma: findings from a case鈥揷ontrol study in the Madeira island population
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  • 作者:Anabela Gon莽alves Berenguer ; Ana Teresa Fernandes ; Susana Oliveira…
  • 关键词:Asthma ; Madeira ; SNPs ; Susceptibility ; Severity
  • 刊名:Biological Research
  • 出版年:2014
  • 出版时间:December 2014
  • 年:2014
  • 卷:47
  • 期:1
  • 全文大小:386KB
  • 参考文献:1.Reddel HK, Taylor DR, Bateman ED, Boulet LP, Boushey HA, Busse WW, Casale TB, Chanez P, Enright PL, Gibson PG, de Jongste JC, Kerstjens HA, Lazarus SC, Levy ML, O鈥橞yrne PM, Partridge MR, Pavord ID, Sears MR, Sterk PJ, Stoloff SW, Sullivan SD, Szefler SJ, Thomas MD, Wenzel SE, American Thoracic Society/European Respiratory Society Task Force on Asthma Control and Exacerbations: An official american thoracic society/european respiratory society statement: asthma control and exacerbations. Am J Respir Crit Care Med 2009,180(Suppl1):59鈥?9.PubMed CrossRef
    2.Cookson WOC: Asthma genetics. Chest 2002,121(Suppl 3):7鈥?3.CrossRef
    3.Su MW, Tung KY, Liang PH, Tsai CH, Kuo NW, Lee YL: Gene-gene and gene-environmental interactions of childhood asthma: a multifactor dimension reduction approach. PLoS One 2012,7(Suppl 2):e30694.PubMed CrossRef PubMed Central
    4.Samolinski B, Fronczak A, Kuna P, Akdis CA, Anto JM, Bialoszewski AZ, Burney PG, Bush A, Czupryniak A, Dahl R, Flood B, Galea G, Jutel M, Kowalski ML, Palkonen S, Papadopoulos N, Raciborski F, Sienkiewicz D, Tomaszewska A, Von Mutius E, Willman D, W艂odarczyk A, Yusuf O, Zuberbier T, Bousquet J, Niggemann B: Prevention and control of childhood asthma and allergy in the EU from the public health point of view: an urgent need to fill the gaps. Allergy 2012,67(Suppl 6):726鈥?31.PubMed CrossRef PubMed Central
    5.To T, Stanojevic S, Moores G, Gershon AS, Bateman ED, Cruz AA, Boulet LP: Global asthma prevalence in adults: findings from the cross-sectional world health survey. BMC Public Health 2012, 12:204. 10.1186/1471-2458-12-204PubMed CrossRef PubMed Central
    6.Pinto JR, Almeida MM: Epidemiology of asthma in schoolchildren in Portuguese speaking regions. Rev Fr Allergol 2005, 45:547鈥?49.
    7.Berenguer AG, C芒mara RA, Brehm AD, Oliveira S, Fernandes AT: Distribution of polymorphisms IL4鈥?90 C/T and IL4-RP2 in the human populations of Madeira, Azores, Portugal, Cape Verde and Guinea-Bissau. Int J Mol Epidemiol Genet 2012,3(Suppl 2):179鈥?83.PubMed PubMed Central
    8.von Mutius E: Gene-environment interactions in asthma. J Allergy Clin Immunol 2009,123(Suppl 1):3鈥?1.PubMed CrossRef
    9.Vercelli D: Discovering susceptibility genes for asthma and allergy. Nat Rev Immunol 2008,8(Suppl 3):169鈥?82.PubMed CrossRef
    10.Heinzmann A, Mao X-Q, Akaiwa M, Kreomer RT, Gao P-S, Ohshima K, Umeshita R, Abe Y, Braun S, Yamashita T, Roberts MH, Sugimoto 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, et al.: Genetic variants of IL-13 signalling and human asthma and atopy. Hum Mol Genet 2000,9(Suppl 4):549鈥?59.PubMed CrossRef
    11.Chen W, Ericksen MB, Levin LS, Hershey GK: Functional effect of the R110Q IL13 genetic variant alone and in combination with IL4RA genetic variants. J Allergy Clin Immunol 2004,114(Suppl 3):553鈥?60.PubMed CrossRef
    12.Vladich FD, Brazille SM, Stern D, Peck ML, Ghittoni R, Vercelli D: IL-13 R130Q, a common variant associated with allergy and asthma, enhances effector mechanisms essential for human allergic inflammation. J Clin Invest 2005,115(Suppl 3):747鈥?54.PubMed CrossRef PubMed Central
    13.Bottema RW, Nolte IM, Howard TD, Koppelman GH, Dubois AE, de Meer G, Kerkhof M, Bleecker ER, Meyers DA, Postma DS: Interleukin 13 and Interleukin 4 Receptor-alpha Polymorphisms in Rhinitis and Asthma. Int Arch Allergy Immunol 2010,153(Suppl 3):259鈥?67.PubMed CrossRef
    14.Brightling CE, Saha S, Hollins F: Interleukin-13: prospects for new treatments. Clin Exp Allergy 2010,40(Suppl 1):42鈥?9.PubMed PubMed Central
    15.Chu Y, Hua L, Liu Q, Bao Y: A common variant associated with asthma, interleukin 13 R130Q, promotes the production of IgE. Int J Immunogenet 2012,39(Suppl 4):308鈥?13.PubMed CrossRef
    16.Cui L, Jia J, Ma C-F, Li S-Y, Wang Y-P, Guo X-M, Li Q, Yu H-B, Liu W-H, Gao LB: IL-13 polymorphisms contribute to the risk of asthma: a meta-analysis. Clin Biochem 2012,45(Suppl 4鈥?):285鈥?88.PubMed CrossRef
    17.Wang W, Halmurat W, Yilihamu S, Xiang YB, Ablikemu A: A study on the relationship between interleukin-4 promoter polymorphism and asthma in a Xinjiang Uyger population. Zhonghua Jie He He Hu Xi Za Zhi 2004,27(Suppl 7):460鈥?64.PubMed
    18.Gervaziev YV, Kaznacheev VA, Gervazieva VB: Allelic polymorphisms in the interleukin-4 promoter regions and their association with bronchial asthma among the Russian population. Int Arch Allergy Immunol 2006,141(Suppl 3):257鈥?64.PubMed CrossRef
    19.Kabesch M, Schedel M, Carr D, Woitsch B, Fritzsch C, Weiland SK, von Mutius E: IL-4/IL-13 pathway genetics strongly influence serum IgE levels and childhood asthma. J Allergy Clin Immunol 2006,117(Suppl 2):269鈥?74.PubMed CrossRef
    20.Chiang CH, Tang YC, Lin MW, Chung MY: Association between the IL-4 promoter polymorphisms and asthma or severity of hyperresponsiveness in Taiwanese. Respirology 2007,12(Suppl 1):42鈥?8.PubMed CrossRef
    21.de Guia RM, Ramos JD: The -590C/T IL4 single-nucleotide polymorphism as a genetic factor of atopic allergy. Int J Mol Epidemiol Genet 2010,1(Suppl 1):67鈥?3.PubMed PubMed Central
    22.Li Y, Guo B, Zhang L, Han J, Wu B, Xiong H: Association between C-589T polymorphisms of interleukin-4 gene promoter and asthma: a meta-analysis. Respir Med 2008,102(Suppl 7):984鈥?92.PubMed CrossRef
    23.Rockman MV, Hahn MW, Soranzo N, Goldstein DB, Wray GA: Positive selection on a human-specific transcription factor binding site regulating IL4 expression. Curr Biol 2003,13(Suppl 23):2118鈥?123.PubMed CrossRef
    24.Fang GF, Fan XY, Shen FH: The relationship between polymorphisms of interleukin颅4 gene and silicosis. Biomed Environ Sci 2011,24(Suppl 6):678鈥?82.PubMed
    25.Sato R: The role of beta 2-adrenoceptor gene polymorphisms in asthma. Hokkaido Igaku Zasshi 2000,75(Suppl 2):81鈥?4.PubMed
    26.Contopoulos-Ioannidis DG, Manoli EN, Ioannidis JPA: Meta-analysis of the association of b2- adrenergic receptor polymorphisms with asthma phenotypes. J Allergy Clin Immunol 2005,115(Suppl 5):963鈥?72.PubMed CrossRef
    27.Eerdewegh PV, Little RD, Dupuis J, Del Mastro RG, Falls K, Simon J, Torrey D, Pandit S, McKenny J, Braunschweiger K, Walsh A, Liu Z, Hayward B, Folz C, Manning SP, Bawa A, Saracino L, Thackston M, Benchekroun Y, Capparell N, Wang M, Adair R, Feng Y, Dubois J, FitzGerald MG, Huang H, Gibson R, Allen KM, Pedan A, Danzig MR, et al.: Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 2002,418(Suppl 6896):426鈥?30.PubMed CrossRef
    28.Howard TD, Postma DS, Jongepier H, Moore WC, Koppelman GH, Zheng SL, Xu J, Bleecker ER, Meyers DA: Association of a disintegrin and metalloprotease 33 (ADAM33) gene with asthma in ethnically diverse populations. J Allergy Clin Immunol 2003,112(Suppl 4):717鈥?22.PubMed CrossRef
    29.Su D, Zhang X, Sui H, L眉 F, Jin L, Zhang J: Association of ADAM33 gene polymorphisms with adult allergic asthma and rhinitis in a Chinese Han population. BMC Med Genet 2008, 9:82.PubMed CrossRef PubMed Central
    30.Qu S, Sun D, Wang Y, Zhang C, Lv Y, Yao L: Association of ADAM33 polymorphisms with childhood asthma in a northern Chinese population. Exp Mol Pathol 2011,91(Suppl 3):775鈥?79.PubMed CrossRef
    31.Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S, Depner M, von Berg A, Bufe A, Rietschel E, Heinzmann A, Simma B, Frischer T, Willis-Owen SA, Wong KC, Illig T, Vogelberg C, Weiland SK, von Mutius E, Abecasis GR, Farrall M, Gut IG, Lathrop GM, Cookson WO: Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 2007,448(Suppl 7152):470鈥?73.PubMed CrossRef
    32.Galanter J, Choudhry S, Eng C, Nazario S, Rodr铆guez-Santana JR, Casal J, Torres-Palacios A, Salas J, Chapela R, Watson HG, Meade K, LeNoir M, Rodr铆guez-Cintr贸n W, Avila PC, Burchard EG: ORMDL3 gene is associated with asthma in three ethnically diverse populations. Am J Respir Crit Care Med 2008,177(Suppl 11):1194鈥?200.PubMed CrossRef PubMed Central
    33.Madore AM, Tremblay K, Hudson TJ, Laprise C: Replication of an association between 17q21 SNPs and asthma in a French-Canadian familial collection. Hum Genet 2008,123(Suppl 1):93鈥?5.PubMed CrossRef
    34.Tavendale R, Macgregor DF, Mukhopadhyay S, Palmer CN: A polymorphism controlling ORMDL3 expression is associated with asthma that is poorly controlled by current medications. J Allergy Clin Immunol 2008,121(Suppl 4):860鈥?63.PubMed CrossRef
    35.Bisgaard H, B酶nnelykke K, Sleiman PM, Brasholt M, Chawes B, Kreiner-M酶ller E, Stage M, Kim C, Tavendale R, Baty F, Pipper CB, Palmer CN, Hakonarsson H: Chromosome 17q21 gene variants are associated with asthma and exacerbations but not atopy in early childhood. Am J Respir Crit Care Med 2009,179(Suppl 3):179鈥?85.PubMed CrossRef
    36.Wu H, Romieu I, Sienra-Monge JJ, Li H, del Rio-Navarro BE, London SJ: Genetic variation in ORM1-like 3 (ORMDL3) and gasdermin-like (GSDML) and childhood asthma. Allergy 2009,64(Suppl 4):629鈥?35.PubMed CrossRef PubMed Central
    37.Halapi E, Gudbjartsson DF, Jonsdottir GM, Bjornsdottir US, Thorleifsson G, Helgadottir H, Williams C, Koppelman GH, Heinzmann A, Boezen HM, Jonasdottir A, Blondal T, Gudjonsson SA, Jonasdottir A, Thorlacius T, Henry AP, Altmueller J, Krueger M, Shin HD, Uh ST, Cheong HS, Jonsdottir B, Ludviksson BR, Ludviksdottir D, Gislason D, Park CS, Deichmann K, Thompson PJ, Wjst M, Hall IP, et al.: A sequence variant on 17q21 is associated with age at onset and severity of asthma. Eur J Hum Genet 2010,18(Suppl 8):902鈥?08.PubMed CrossRef PubMed Central
    38.Binia A, Khorasani N, Bhavsar PK, Adcock I, Brightling CE, Chung KF, Cookson WO, Moffatt MF: Chromosome 17q21 SNP and severe asthma. J Hum Genet 2011,56(Suppl 1):97鈥?8.PubMed CrossRef PubMed Central
    39.Yu J, Kang MJ, Kim BJ, Kwon JW, Song YH, Choi WA, Shin YJ, Hong SJ: Polymorphisms in GSDMA and GSDMB are associated with asthma susceptibility. Atopy and BHR. Pediatr Pulmonol 2011,46(Suppl 7):701鈥?08.PubMed CrossRef
    40.Schedel M, Carr D, Klopp N, Woitsch B, Illig T, Stachel D, Schmid I, Fritzsch C, Weiland SK, von Mutius E, Kabesch M: A signal transducer and activator of transcription 6 haplotype influences the regulation of serum IgE levels. J Allergy Clin Immunol 2004,114(Suppl 5):1100鈥?105.PubMed CrossRef
    41.Weidinger S, Klopp N, Wagenpfeil S, R眉mmler L, Schedel M, Kabesch M, Sch盲fer T, Darsow U, Jakob T, Behrendt H, Wichmann HE, Ring J, Illig T: Association of a STAT 6 haplotype with elevated serum IgE levels in a population based cohort of white adults. J Med Genet 2004,41(Suppl 9):658鈥?63.PubMed CrossRef PubMed Central
    42.Daley D, Lemire M, Akhabir L, Chan-Yeung M, He JQ, McDonald T, Sandford A, Stefanowicz D, Tripp B, Zamar D, Bosse Y, Ferretti V, Montpetit A, Tessier MC, Becker A, Kozyrskyj AL, Beilby J, McCaskie PA, Musk B, Warrington N, James A, Laprise C, Palmer LJ, Par茅 PD, Hudson TJ: Analyses of associations with asthma in four asthma population samples from Canada and Australia. Hum Genet 2009,125(Suppl 4):445鈥?59.PubMed CrossRef
    43.Schedel M, Frei R, Bieli C, Cameron L, Adamski J, Lauener R, Kabesch M: An IgE-associated polymorphism in STAT6 alters NF-kB binding, STAT6 promoter activity, and mRNA expression. J Allergy Clin Immunol 2009,124(Suppl 3):583鈥?89.PubMed CrossRef
    44.Kavalar MS, Balantic M, Silar M, Kosnik M, Korosec P, Rijavec M: Association of ORMDL3, STAT6 and TBXA2R gene polymorphisms with asthma. Int J Immunogenet 2012,39(Suppl 1):20鈥?5.PubMed CrossRef
    45.Cantagrel A, Navaux F, Loubet-Lescouli茅 P, Nourhashemi F, Enault G, Abbal M, Constantin A, Laroche M, Mazi猫res B: Interleukin-1beta, interleukin-1 receptor antagonist, interleukin-4, and interleukin-10 gene polymorphisms: relationship to occurrence and severity of rheumatoid arthritis. Arthritis Rheum 1999,42(Suppl 6):1093鈥?100.PubMed CrossRef
    46.The International HapMap Consortium: The International HapMap Project. Nature 2003, 426:789鈥?96. 10.1038/nature02168CrossRef
    47.Lunetta KL: Statistical primer for cardiovascular research. Circulation 2008, 118:96鈥?01. 10.1161/CIRCULATIONAHA.107.700401PubMed CrossRef
    48.Ramsey CD, Celed贸n JC, Sredl DL, Weiss ST, Cloutier MM: Predictors of disease severity in children with asthma in Hartford. Connecticut Pediatr Pulmonol 2005,39(Suppl 3):268鈥?75.CrossRef
    49.Kim TB, Park CS, Bae YJ, Cho YS, Moon HB, COREA Study Group: Factors associated with severity and exacerbation of asthma: a baseline analysis of the cohort for reality and evolution of adult asthma in Korea (COREA). Ann Allergy Asthma Immunol 2009,103(Suppl 4):311鈥?17.PubMed CrossRef
    50.Forno E, Celed贸n JC: Predicting asthma exacerbations in children. Curr Opin Pulm Med 2012,18(Suppl 1):63鈥?9.PubMed CrossRef PubMed Central
    51.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鈥?22. 10.1164/ajrccm.160.3.9812024PubMed CrossRef
    52.Oh CK, Geba GP, Molfino N: Investigational therapeutics targeting the IL-4/IL-13/STAT-6 pathway for the treatment of asthma. Eur Respir Rev 2010,19(Suppl 115):46鈥?4.PubMed CrossRef
    53.Gr眉nig G, Corry DB, Reibman J, Wills-Karp M: Interleukin 13 and the evolution of asthma therapy. Am J Clin Exp Immunol 2012,1(Suppl 1):20鈥?7.PubMed PubMed Central
    54.Abdulamir AS, Hafidh RR, Abubakar F: Different inflammatory mechanisms in lungs of severe and mild asthma: crosstalk of NF-kappa-B, TGFbeta1, Bax, Bcl-2, IL-4 and IgE. Scand J Clin Lab Invest 2009,69(Suppl 4):487鈥?95.PubMed CrossRef
    55.Lama M, Chatterjee M, Nayak CR, Chaudhuri TK: Increased interleukin-4 and decreased interferon-纬 levels in serum of children with asthma. Cytokine 2011,55(Suppl 3):335鈥?38.PubMed CrossRef
    56.Nakashima H, Miyake K, Inoue Y, Shimizu S, Akahoshi M, Tanaka Y, Otsuka T, Harada M: Association between IL-4 genotype and IL-4 production in the Japanese population. Genes Immun 2002,3(Suppl 2):107鈥?09.PubMed CrossRef
    57.Sebro R, Rogus JJ: The power of the Transmission Disequilibrium Test in the presence of population stratification. Eur J Hum Genet 2010,18(Suppl 9):1032鈥?038.PubMed CrossRef PubMed Central
    58.Lewis CM: Genetic association studies: design, analysis and interpretation. Brief Bioinform 2002,3(Suppl 2):146鈥?53.PubMed CrossRef
    59.Cardon LR, Bell JI: Association study designs for complex diseases. Nat Rev Genet 2001,2(Suppl 2):91鈥?9.PubMed CrossRef
    60.Freedman ML, Reich D, Penney KL, McDonald GJ, Mignault AA, Patterson N, Gabriel SB, Topol EJ, Smoller JW, Pato CN, Pato MT, Petryshen TL, Kolonel LN, Lander ES, Sklar P, Henderson B, Hirschhorn JN, Altshuler D: Assessing the impact of population stratification on genetic association studies. Nat Genet 2004,36(Suppl 4):388鈥?93.PubMed CrossRef
    61.Gon莽alves R, Freitas A, Branco M, Rosa A, Fernandes AT, Zhivotovsky LA, Underhill PA, Kivisild T, Brehm A: Y-chromosome Lineages from Portugal, Madeira and A莽ores Record Elements of Sephardim and Berber Ancestry. Ann Hum Genet 2005,69(Suppl 4):443鈥?54.PubMed CrossRef
    62.Brehm A, Pereira L, Kivisild T, Amorim A: Mitochondrial portraits of the Madeira and A莽ores archipelagos witness different genetic pools of its settlers. Hum Genet 2003,114(Suppl 1):77鈥?6.PubMed CrossRef
    63.Binaei S, Christensen M, Murphy C, Zhang Q, Quasney M: 尾2-Adrenergic receptor polymorphisms in children with status asthmaticus. Chest 2003,123(Suppl 3):375.
    64.Santillan AA, Camargo CA Jr, Ramirez-Rivera A, Delgado-Enciso I, Rojas-Martinez A, Cantu-Diaz F, Barrera-Salda帽a HA: Association between 尾2-adrenoceptor polymorphisms and asthma diagnosis among Mexican adults. J Allergy Clin Immunol 2003,112(Suppl 6):1095鈥?100.PubMed CrossRef
    65.Shachor J, Chana Z, Varsano S, Erlich T, Goldman E, Dror Y, Yakovy I, Navon R: Genetic polymorphisms of the beta-2 adrenergic receptor in Israelis with severe asthma compared to non-asthmatic Israelis. Isr Med Assoc J 2003,5(Suppl 11):821鈥?24.PubMed
    66.Joos L, Weir TD, Connett JE, Anthonisen NR, Woods R, Par茅 PD, Sandford AJ: Polymorphisms in the 脽2 adrenergic receptor and bronchodilator response, bronchial hyperresponsiveness, and rate of decline in lung function in smokers. Thorax 2003,58(Suppl 8):703鈥?07.PubMed CrossRef PubMed Central
    67.Thakkinstian A, McEvoy M, Minelli C, Gibson P, Hancox B, Duffy D, Thompson J, Hall I, Kaufman J, Leung TF, Helms PJ, Hakonarson H, Halpi E, Navon R, Attia J: Systematic review and meta-analysis of the association between b2-Adrenoceptor polymorphisms and asthma: a huge review. Am J Epidemiol 2005,162(Suppl 3):201鈥?11.PubMed CrossRef
    68.Song GG, Kim JH, Lee YH: Association between ADAM33 S2 and ST+4 polymorphisms and susceptibility to asthma: a meta-analysis. Gene 2013,524(Suppl 1):72鈥?8.PubMed CrossRef
    69.Holloway JW, Yan IA, Holgate ST: Genetics of allergic disease. J Allergy Clin Immunol 2010,125(Suppl 2):81鈥?4.CrossRef
    70.Schedel M, Depner M, Schoen C, Weiland SK, Vogelberg C, Niggemann B, Lau S, Illig T, Klopp N, Wahn U, von Mutius E, Nickel R, Kabesch M: The role of polymorphisms in ADAM33, a disintegrin and metalloprotease 33, in childhood asthma and lung function in two German populations. Respir Res 2006, 7:91. 10.1186/1465-9921-7-91PubMed CrossRef PubMed Central
    71.Yang Y, Wicks J, Haitchi HM, Powell RM, Manuyakorn W, Howarth PH, Holgate ST, Davies DE: Regulation of A disintegrin and Metalloprotease-33 expression by transforming growth factor-beta. Am J Respir Cell Mol Biol 2012,46(Suppl 5):633鈥?40.PubMed CrossRef PubMed Central
    72.Vergara CI, Acevedo N, Jim茅nez S, Mart铆nez B, Mercado D, Gusm茫o L, Barnes KC, Caraballo L: A Six-SNP haplotype of ADAM33 is associated with asthma in a population of Cartagena, Colombia. Int Arch Allergy Immunol 2010,152(Suppl 1):32鈥?0.PubMed CrossRef PubMed Central
    73.Duetsch G, Illig T, Loesgen S, Rohde K, Klopp N, Herbon N, Gohlke H, Altmueller J, Wjst M: STAT6 as an asthma candidate gene: polymorphism- screening, association and haplotype analysis in a Caucasian sib-pair study. Hum Mol Genet 2002,11(Suppl 6):613鈥?21.PubMed CrossRef
    74.Nofziger C, Vezzoli V, Dossena S, Sch枚nherr T, Studnicka J, Nofziger J, Vanoni S, Stephan S, Silva ME, Meyer G, Paulmichl M: STAT6 Links IL-4/IL-13 stimulation with pendrin expression in asthma and chronic obstructive pulmonary disease. Clin Pharmacol Ther 2011,90(Suppl 3):399鈥?05.PubMed CrossRef
    75. The Global Initiative for Asthma (GINA) http://鈥媤ww.鈥媑inasthma.鈥媜rg/鈥?/span>
    76.Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988,16(Suppl 3):1215.PubMed CrossRef PubMed Central
    77.Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual. Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press; 1989.
    78.Excoffier L, Laval G, Schneider S: Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evol Bioinform Online 2005, 1:47鈥?0.PubMed Central
    79.Barrett JC, Fry B, Maller J, Daly MJ: Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005,21(Suppl 2):263鈥?65.PubMed CrossRef
    80.Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007,81(Suppl 3):559鈥?75.PubMed CrossRef PubMed Central
    81.Lowry R: McNemar鈥檚 test. http://鈥媣assarstats.鈥媙et/鈥媝ropcorr.鈥媓tml
    82.Benjamini Y, Hochberg Y: Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc Series B 1995,57(Suppl 1):289鈥?00.
  • 作者单位:Anabela Gon莽alves Berenguer (5) (9)
    Ana Teresa Fernandes (5)
    Susana Oliveira (6)
    Mariana Rodrigues (7)
    Pedro Ornelas (6)
    Diogo Romeira (6)
    T芒nia Serr茫o (6)
    Alexandra Rosa (5) (8)
    Rita C芒mara (6)

    5. Human Genetics Laboratory, University of Madeira, 9000-390, Funchal, Portugal
    9. Department of Computer Science and Engineering, University of Oulu, PL 4500, 90014, Oulu, Finland
    6. Immunoalergology Unit, Dr. N茅lio Mendon莽a Hospital, SESARAM, E.P.E, Funchal, Portugal
    7. Unit of Statistics, Dr. N茅lio Mendon莽a Hospital, SESARAM, E.P.E, Funchal, Portugal
    8. Medical Sciences Unit, Center of Life Sciences, University of Madeira, 9000-390, Funchal, Portugal
  • 刊物类别:Life Sciences, general; Cell Biology; Neurosciences; Developmental Biology; Microbiology; Plant Scie
  • 刊物主题:Life Sciences, general; Cell Biology; Neurosciences; Developmental Biology; Microbiology; Plant Sciences;
  • 出版者:BioMed Central
  • ISSN:0717-6287
文摘
Background Asthma is a complex disease influenced by multiple genetic and environmental factors. While Madeira has the highest prevalence of asthma in Portugal (14.6%), the effect of both genetic and environmental factors in this population has never been assessed. We categorized 98 asthma patients according to the Global Initiative for Asthma (GINA) guidelines, established their sensitization profile, and measured their forced expiratory volume in 1 second (FEV1) and forced vital capacity (FVC) indexes. Selected single nucleotide polymorphisms (SNPs) were analysed as potential markers for asthma susceptibility and severity in the interleukin 4 (IL4), interleukin 13 (IL13), beta-2-adrenergic receptor (ADRB2), a disintegrin and metalloprotease 33 (ADAM33), gasdermin-like (GSDML) and the signal transducer and activator of transcription 6 (STAT6) genes comparatively to a population reference set.

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