Gene
rs
SNP
References
IL-6 −174
rs1800795
G/C
Sainz J, Pérez E, Gómez-Lopera S, López-Fernández E, Moratalla L, Oyonarte S,Jurado M. Genetic variants of IL6 gene promoter influence on C-reactive protein levels but are not associated with susceptibility to invasive pulmonary aspergillosis in haematological patients Cytokine. 2008;(3):268-78.
IL-10R 138
rs 4252272
A/G
Gasche C, Grundtner P, Zwirn P, Reinisch W, Shaw SH, Zdanov A, et al. Novel variants of the IL-10 receptor 1 affect inhibition of monocyte TNF-alpha production. J Immunol. 2003;170(11):5578-82
IL-10R 330
rs2229113
G/A
Gasche C, Grundtner P, Zwirn P, Reinisch W, Shaw SH, Zdanov A, et al. Novel variants of the IL-10 receptor 1 affect inhibition of monocyte TNF-alpha production. J Immunol. 2003;170(11):5578-82
IL-10 −592
rs1800872
C/A
Lech-Maranda E, Baseggio L, Bienvenu J, Charlot C, Berger F, Rigal D, et al. Interleukin-10 gene promoter polymorphisms influence the clinical outcome of diffuse large B-cell lymphoma. Blood. 2004;103(9):3529-34.
IL-10 −819
rs1800871
C/T
Lech-Maranda E, Baseggio L, Bienvenu J, Charlot C, Berger F, Rigal D, et al. Interleukin-10 gene promoter polymorphisms influence the clinical outcome of diffuse large B-cell lymphoma. Blood. 2004;103(9):3529-34.
IL-10 1082
rs1800896
A/G
Lech-Maranda E, Baseggio L, Bienvenu J, Charlot C, Berger F, Rigal D, et al. Interleukin-10 gene promoter polymorphisms influence the clinical outcome of diffuse large B-cell lymphoma. Blood. 2004;103(9):3529-34.
IL-10 −2849
rs6703630
G/A
Moraes MO, Santos AR, Schonkeren JJ, Vanderborght PR, Ottenhoff TH, Moraes ME, et al. Interleukin-10 promoter haplotypes are differently distributed in the Brazilian versus the Dutch population. Immunogenetics. 2003;54(12):896-9.
IL-10 −2763
rs6693899
C/A
Moraes MO, Santos AR, Schonkeren JJ, Vanderborght PR, Ottenhoff TH, Moraes ME, et al. Interleukin-10 promoter haplotypes are differently distributed in the Brazilian versus the Dutch population. Immunogenetics. 2003;54(12):896-9.
IL-10 −3575
rs1800890
T/A
Moraes MO, Santos AR, Schonkeren JJ, Vanderborght PR, Ottenhoff TH, Moraes ME, et al. Interleukin-10 promoter haplotypes are differently distributed in the Brazilian versus the Dutch population. Immunogenetics. 2003;54(12):896-9.
INFG +874
rs2430561
A/T
Pravica V, Perrey C, Stevens A, Lee JH, Hutchinson IV. A single nucleotide polymorphism in the frst intron of the human IFN-gamma gene: absolute correlation with a polymorphic CA microsatellite marker of high IFN-gamma production. Hum Immunol. 2000;61(9):863-6.
IL-12B 1188
rs3212227
A/C
van Veen et al., Genes and Immunity. 2000;1:219-24
CCR5[delta]32
rs333
del
Shahbazi M, Ebadi H, Fathi D, Roshandel D, Mahamadhoseeni M, Rashidbaghan A, et al. CCR5-delta 32 allele is associated with the risk of developing multiple sclerosis in the Iranian population. Cell Mol Neurobiol. 2009;29(8):1205-9.
TLR4 299D/G 896
rs4986790
A/G
Ramasawmy R, Cunha-Neto E, Fae KC, Borba SC, Teixeira PC, Ferreira SC, et al. Heterozygosity for the S180L variant of MAL/TIRAP, a gene expressing an adaptor protein in the Toll-like receptor pathway, is associated with lower risk of developing chronic Chagas cardiomyopathy. J Infect Dis. 2009;199(12):1838-45.
MBL57 Gly/Asp
rs1800451
G/A
Ramasawmy R, Spina GS, Fae KC, Pereira AC, Nisihara R, Messias Reason IJ, et al. Association of mannose-binding lectin gene polymorphism but not of mannose-binding serine protease 2 with chronic severe aortic regurgitation of rheumatic etiology. Clin Vaccine Immunol. 2008;15(6):932-6 / Lipscombe RJ, Sumiya M, Hill AV, Lau YL, Levinsky RJ, Summerfield JA, et al. High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene. Hum Mol Genet. 1992;1(9):709-15.
MBL52 Arg/Cys
rs5030737
C/T
Ramasawmy R, Spina GS, Fae KC, Pereira AC, Nisihara R, Messias Reason IJ, et al. Association of mannose-binding lectin gene polymorphism but not of mannose-binding serine protease 2 with chronic severe aortic regurgitation of rheumatic etiology. Clin Vaccine Immunol. 2008; 15(6):932-936/ Garred P. Mannose-binding lectin genetics: from A to Z. Biochem Soc Trans. 2008;36:1461-6.
MBL54 Gly/Asp
rs1800450
G/A
Ramasawmy R, Spina GS, Fae KC, Pereira AC, Nisihara R, Messias Reason IJ, et al. Association of mannose-binding lectin gene polymorphism but not of mannose-binding serine protease 2 with chronic severe aortic regurgitation of rheumatic etiology. Clin Vaccine Immunol. 2008;15(6):932-6.
MBL-221 X/Y
rs7096206
G/C
Laisk T, Peters M, Saare M, Haller-Kikkatalo K, Karro H, Salumets A. Association of CCR5, TLR2, TLR4 and MBL genetic variations with genital tract infections and tubal factor infertility. J Reprod Immunol. 2010; Jul 1. [Epub ahead of print]
MBL-550 H/L
rs11003125
C/G
Laisk T, Peters M, Saare M, Haller-Kikkatalo K, Karro H, Salumets A. Association of CCR5, TLR2, TLR4 and MBL genetic variations with genital tract infections and tubal factor infertility. J Reprod Immunol. 2010; Jul 1. [Epub ahead of print]
MBL +4 P/Q
rs7095891
C/T
Laisk T, Peters M, Saare M, Haller-Kikkatalo K, Karro H, Salumets A. Association of CCR5, TLR2, TLR4 and MBL genetic variations with genital tract infections and tubal factor infertility. J Reprod Immunol. 2010; Jul 1. [Epub ahead of print]
MASP2 120D/G
rs72550870
A/G
Ramasawmy R, Spina GS, Fae KC, Pereira AC, Nisihara R, Messias Reason IJ, et al. Association of mannose-binding lectin gene polymorphism but not of mannose-binding serine protease 2 with chronic severe aortic regurgitation of rheumatic etiology. Clin Vaccine Immunol. 2008;15(6):932-6.
NOD2 3020insC 1007fs
rs2066847
insC
Ghandil P, Chelala C, Dubois-Laforgue D, Senée V, Caillat-Zucman S, Kockum I,et al. Crohn's disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetes. Mol Genet Metab. 2005;86(3):379-83.
MCP1 −2518
rs1024611
A/G
Rovin BH, Lu L, Saxena R. A novel polymorphism in the MCP-1 gene regulatory region that influences MCP-1expression. Biochem Biophys Res Commun. 1999;259(2):344-8.
TNFA −238
rs361525
G/A
Migot-Nabias F, Mombo LE, Luty AJ, Dubois B, Nabias R, Bisseye C, et al. Human genetic factors related to susceptibility to mild malaria in Gabon. Genes Immun. 2000;1(7):435-41.
TNFA −308
rs1800629
G/A
Bittencourt PL, Palácios SA, Cançado EL, Porta G, Drigo S, Carrilho FJ, et al. Autoimmune hepatitis in Brazilian patients is not linked to tumor necrosis factor alpha polymorphisms at position −308. J Hepatol. 2001;35(1):24-8.
LTA +80
rs2239704
A/C
Ramasawmy R, Fae KC, Cunha-Neto E, Müller NG, Cavalcanti VL, Ferreira RC, et al. Polymorphisms in the gene for lymphotoxin-alpha predispose to chronic Chagas cardiomyopathy. J Infect Dis. 2007;196(12):1836-43
LTA +252
rs909253
A/G
Ramasawmy R, Fae KC, Cunha-Neto E, Müller NG, Cavalcanti VL, Ferreira RC, et al. Polymorphisms in the gene for lymphotoxin-alpha predispose to chronic Chagas cardiomyopathy. J Infect Dis. 2007;196(12):1836-43
NFkB1L1 −63
rs2071592
T/A
Ramasawmy R, Faé KC, Cunha-Neto E, Borba SC, Ianni B, Mady C, et al. Variants in the promoter region of IKBL/NFKBIL1 gene may mark susceptibility to the development of chronic Chagas’ cardiomyopathy among Trypanosoma cruzi-infected individuals. Mol Immunol. 2008;45(1):283-8
BAT1 −22
rs2239527
C/G
Ramasawmy R, Cunha-Neto E, Faé KC, Müller NG, Cavalcanti VL, Drigo SA, et al. BAT1, a putative anti-inflammatory gene, is associated with chronic Chagas cardiomyopathy. J Infect Dis. 2006;193(10):1394-9.
BAT1 −348
C/T
Ramasawmy R, Cunha-Neto E, Faé KC, Müller NG, Cavalcanti VL, Drigo SA, et al. BAT1, a putative anti-inflammatory gene, is associated with chronic Chagas cardiomyopathy. J Infect Dis. 2006;193(10):1394-9.
LST1 +290
A/G
Rollinger-Holzinger I, Eibl B, Pauly M, Griesser U, Hentges F, Auer B, et al. LST1: a gene with extensive alternative splicing and immunomodulatory function. J Immunol. 2000;164(6):3169-76.
IL-4 −589
rs2243250
C/T
Verra F, Luoni G, Calissano C, Troye-Blomberg M, Perlmann P, Perlmann H, et al. IL4-589C/T polymorphism and IgE levels in severe malaria. Acta Trop. 2004;90(2):205-9.
IL-4 +33
rs2070874
C/T
Shibata N, Ohnuma T, Takahashi T, Baba H, Ishizuka T, Ohtsuka M, et al. The effect of IL4 +33C/T polymorphism on risk of Japanese sporadic Alzheimer's disease. Neurosci Lett. 2002;323(2):161-3.
IL-4 +3017
rs2227284
G/T
Basehore MJ, Howard TD, Lange LA, Moore WC, Hawkins GA, Marshik PL, et al. A comprehensive evaluation of IL4 variants in ethnically diverse populations: association of total serum IgE levels and asthma in white subjects. J Allergy Clin Immunol. 2004;114(1):80-7.
IL-13 Q110R
rs20541
G/A
Heinzmann A, Mao XQ, Akaiwa M, Kreomer RT, Gao PS, Ohshima K, et al. Genetic variants of IL-13 signalling and human asthma and atopy. Hum Mol Genet. 2000;9(4):549-59.
IL-4R I50V
rs1805011
A/G
Mitsuyasu H, Yanagihara Y, Mao XQ, Gao PS, Arinobu Y, Ihara K, et al. Cutting edge: dominant effect of Ile50Val variant of the human IL-4 receptor alpha-chain in IgE synthesis. J Immunol. 1999;162(3):1227-31.
IL-5 −746
rs2069812
C/T
Hong SJ, Lee S Y, Kim HB, Kim JH, Kim BS, Choi SO, et al. IL-5 and thromboxane A2 receptor gene polymorphisms are associated with decreased pulmonary function in Korean children with atopic asthma. J Allergy Clin Immunol. 2005;115(4):758-63.
IL-13RA1 +1398
A/G
Heinzmann A, Mao XQ, Akaiwa M, Kreomer RT, Gao PS, Ohshima K, et al. Genetic variants of IL-13 signalling and human asthma and atopy. Hum Mol Genet. 2000;9(4):549-59.
CTLA4 −49
rs231775
G/A
Fan LY, Tu XQ, Cheng QB, Zhu Y, Feltens R, Pfeiffer T, et al. Cytotoxic T lymphocyte associated antigen-4 gene polymorphisms confer susceptibility to primary biliary cirrhosis and autoimmune hepatitis in Chinese population. World J Gastroenterol. 2004;10(20):3056-9.
CTLA4 −60
rs3087243
A/G
Brophy K, Ryan AW, Thornton JM, Abuzakouk M, Fitzgerald A P, McLoughlin RM,O'morain C, Kennedy N P, Stevens FM, Feighery C, Kelleher D, McManus R. Haplotypes in the CTLA4 region are associated with coeliac disease in the Irish population. Genes Immun. 2006;7(1):19-26 / Hradsky O, Dusatkova P, Lenicek M, Bronsky J, Nevoral J, Vitek L, Lukas M, Zeniskova I, Cinek O. The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease. BMC Med Genet. 2010;11:91.
CTLA −318
rs5742909
C/T
Fan LY, Tu XQ, Cheng QB, Zhu Y, Feltens R, Pfeiffer T, et al. Cytotoxic T lymphocyte associated antigen-4 gene polymorphisms confer susceptibility to primary biliary cirrhosis and autoimmune hepatitis in Chinese population. World J Gastroenterol. 2004;10(20):3056-9.
SNP: single nucleotide polymorphism.
Tabela 1
Genótipos e frequências de alelos de polimorfismos de genes imunes inatos em uma amostra de indivíduos sadios
Tabela 2
Genótipos e frequências de alelos de IL-10 e polimorf smos do gene receptor de IL-10 em uma amostra de indivíduos sadios
Tabela 3
Genótipos e frequências de alelos (FA) de polimorfismos do gene receptor de MHC III em uma amostra de indivíduos sadios
Tabela 4
Genótipos e frequências de alelos de IL4, IL5, IL13 e polimorfismos do gene receptor em uma amostra de indivíduos sadios
Tabela 5
Genótipos e frequências de alelos de vários polimorfismos do gene de resposta imune em uma amostra de indivíduos sadios
Genes
rs
SNP
Referências
IL-6 −174
rs1800795
G/C
Sainz J, Pérez E, Gómez-Lopera S, López-Fernández E, Moratalla L, Oyonarte S,Jurado M. Genetic variants of IL6 gene promoter influence on C-reactive protein levels but are not associated with susceptibility to invasive pulmonary aspergillosis in haematological patients Cytokine. 2008;(3):268-78.
IL-10R 138
rs 4252272
A/G
Gasche C, Grundtner P, Zwirn P, Reinisch W, Shaw SH, Zdanov A, et al. Novel variants of the IL-10 receptor 1 affect inhibition of monocyte TNF-alpha production. J Immunol. 2003;170(11):5578-82
IL-10R 330
rs2229113
G/A
Gasche C, Grundtner P, Zwirn P, Reinisch W, Shaw SH, Zdanov A, et al. Novel variants of the IL-10 receptor 1 affect inhibition of monocyte TNF-alpha production. J Immunol. 2003;170(11):5578-82
IL-10 −592
rs1800872
C/A
Lech-Maranda E, Baseggio L, Bienvenu J, Charlot C, Berger F, Rigal D, et al. Interleukin-10 gene promoter polymorphisms influence the clinical outcome of diffuse large B-cell lymphoma. Blood. 2004;103(9):3529-34.
IL-10 −819
rs1800871
C/T
Lech-Maranda E, Baseggio L, Bienvenu J, Charlot C, Berger F, Rigal D, et al. Interleukin-10 gene promoter polymorphisms influence the clinical outcome of diffuse large B-cell lymphoma. Blood. 2004;103(9):3529-34.
IL-10 1082
rs1800896
A/G
Lech-Maranda E, Baseggio L, Bienvenu J, Charlot C, Berger F, Rigal D, et al. Interleukin-10 gene promoter polymorphisms influence the clinical outcome of diffuse large B-cell lymphoma. Blood. 2004;103(9):3529-34.
IL-10 −2849
rs6703630
G/A
Moraes MO, Santos AR, Schonkeren JJ, Vanderborght PR, Ottenhoff TH, Moraes ME, et al. Interleukin-10 promoter haplotypes are differently distributed in the Brazilian versus the Dutch population. Immunogenetics. 2003;54(12):896-9.
IL-10 −2763
rs6693899
C/A
Moraes MO, Santos AR, Schonkeren JJ, Vanderborght PR, Ottenhoff TH, Moraes ME, et al. Interleukin-10 promoter haplotypes are differently distributed in the Brazilian versus the Dutch population. Immunogenetics. 2003;54(12):896-9.
IL-10 −3575
rs1800890
T/A
Moraes MO, Santos AR, Schonkeren JJ, Vanderborght PR, Ottenhoff TH, Moraes ME, et al. Interleukin-10 promoter haplotypes are differently distributed in the Brazilian versus the Dutch population. Immunogenetics. 2003;54(12):896-9.
INFG +874
rs2430561
A/T
Pravica V, Perrey C, Stevens A, Lee JH, Hutchinson IV. A single nucleotide polymorphism in the first intron of the human IFNgamma gene: absolute correlation with a polymorphic CA microsatellite marker of high IFN-gamma production. Hum Immunol. 2000;61(9):863-6.
IL-12B 1188
rs3212227
A/C
van Veen et al., Genes and Immunity. 2000;1:219-24
CCR5[delta]32
rs333
del
Shahbazi M, Ebadi H, Fathi D, Roshandel D, Mahamadhoseeni M, Rashidbaghan A, et al. CCR5-delta 32 allele is associated with the risk of developing multiple sclerosis in the Iranian population. Cell Mol Neurobiol. 2009;29(8):1205-9.
TLR4 299D/G 896
rs4986790
A/G
Ramasawmy R, Cunha-Neto E, Fae KC, Borba SC, Teixeira PC, Ferreira SC, et al. Heterozygosity for the S180L variant of MAL/TIRAP, a gene expressing an adaptor protein in the Toll-like receptor pathway, is associated with lower risk of developing chronic Chagas cardiomyopathy. J Infect Dis. 2009;199(12):1838-45.
MBL57 Gly/Asp
rs1800451
G/A
Ramasawmy R, Spina GS, Fae KC, Pereira AC, Nisihara R, Messias Reason IJ, et al. Association of mannose-binding lectin gene polymorphism but not of mannose-binding serine protease 2 with chronic severe aortic regurgitation of rheumatic etiology. Clin Vaccine Immunol. 2008;15(6):932-6 / Lipscombe RJ, Sumiya M, Hill AV, Lau YL, Levinsky RJ, Summerfield JA, et al. High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene. Hum Mol Genet. 1992;1(9):709-15.
MBL52 Arg/Cys
rs5030737
C/T
Ramasawmy R, Spina GS, Fae KC, Pereira AC, Nisihara R, Messias Reason IJ, et al. Association of mannose-binding lectin gene polymorphism but not of mannose-binding serine protease 2 with chronic severe aortic regurgitation of rheumatic etiology. Clin Vaccine Immunol. 2008; 15(6):932-936/ Garred P. Mannose-binding lectin genetics: from A to Z. Biochem Soc Trans. 2008;36:1461-6.
MBL54 Gly/Asp
rs1800450
G/A
Ramasawmy R, Spina GS, Fae KC, Pereira AC, Nisihara R, Messias Reason IJ, et al. Association of mannose-binding lectin gene polymorphism but not of mannose-binding serine protease 2 with chronic severe aortic regurgitation of rheumatic etiology. Clin Vaccine Immunol. 2008;15(6):932-6.
MBL-221 X/Y
rs7096206
G/C
Laisk T, Peters M, Saare M, Haller-Kikkatalo K, Karro H, Salumets A. Association of CCR5, TLR2, TLR4 and MBL genetic variations with genital tract infections and tubal factor infertility. J Reprod Immunol. 2010; Jul 1. [Epub ahead of print]
MBL-550 H/L
rs11003125
C/G
Laisk T, Peters M, Saare M, Haller-Kikkatalo K, Karro H, Salumets A. Association of CCR5, TLR2, TLR4 and MBL genetic variations with genital tract infections and tubal factor infertility. J Reprod Immunol. 2010; Jul 1. [Epub ahead of print]
MBL +4 P/Q
rs7095891
C/T
Laisk T, Peters M, Saare M, Haller-Kikkatalo K, Karro H, Salumets A. Association of CCR5, TLR2, TLR4 and MBL genetic variations with genital tract infections and tubal factor infertility. J Reprod Immunol. 2010; Jul 1. [Epub ahead of print]
MASP2 120D/G
rs72550870
A/G
Ramasawmy R, Spina GS, Fae KC, Pereira AC, Nisihara R, Messias Reason IJ, et al. Association of mannose-binding lectin gene polymorphism but not of mannose-binding serine protease 2 with chronic severe aortic regurgitation of rheumatic etiology. Clin Vaccine Immunol. 2008;15(6):932-6.
NOD2 3020insC 1007fs
rs2066847
insC
Ghandil P, Chelala C, Dubois-Laforgue D, Senée V, Caillat-Zucman S, Kockum I,et al. Crohn's disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetes. Mol Genet Metab. 2005;86(3):379-83.
MCP1 −2518
rs1024611
A/G
Rovin BH, Lu L, Saxena R. A novel polymorphism in the MCP-1 gene regulatory region that influences MCP-1expression. Biochem Biophys Res Commun. 1999;259(2):344-8.
TNFA −238
rs361525
G/A
Migot-Nabias F, Mombo LE, Luty AJ, Dubois B, Nabias R, Bisseye C, et al. Human genetic factors related to susceptibility to mild malaria in Gabon. Genes Immun. 2000;1(7):435-41.
TNFA −308
rs1800629
G/A
Bittencourt PL, Palácios SA, Cançado EL, Porta G, Drigo S, Carrilho FJ, et al. Autoimmune hepatitis in Brazilian patients is not linked to tumor necrosis factor alpha polymorphisms at position −308. J Hepatol. 2001;35(1):24-8.
LTA +80
rs2239704
A/C
Ramasawmy R, Fae KC, Cunha-Neto E, Müller NG, Cavalcanti VL, Ferreira RC, et al. Polymorphisms in the gene for lymphotoxin-alpha predispose to chronic Chagas cardiomyopathy. J Infect Dis. 2007;196(12):1836-43
LTA +252
rs909253
A/G
Ramasawmy R, Fae KC, Cunha-Neto E, Müller NG, Cavalcanti VL, Ferreira RC, et al. Polymorphisms in the gene for lymphotoxin-alpha predispose to chronic Chagas cardiomyopathy. J Infect Dis. 2007;196(12):1836-43
NFkB1L1 −63
rs2071592
T/A
Ramasawmy R, Faé KC, Cunha-Neto E, Borba SC, Ianni B, Mady C, et al. Variants in the promoter region of IKBL/NFKBIL1 gene may mark susceptibility to the development of chronic Chagas’ cardiomyopathy among Trypanosoma cruzi-infected individuals. Mol Immunol. 2008;45(1):283-8
BAT1 −22
rs2239527
C/G
Ramasawmy R, Cunha-Neto E, Faé KC, Müller NG, Cavalcanti VL, Drigo SA, et al. BAT1, a putative anti-inflammatory gene, is associated with chronic Chagas cardiomyopathy. J Infect Dis. 2006;193(10):1394-9.
BAT1 −348
C/T
Ramasawmy R, Cunha-Neto E, Faé KC, Müller NG, Cavalcanti VL, Drigo SA, et al. BAT1, a putative anti-inflammatory gene, is associated with chronic Chagas cardiomyopathy. J Infect Dis. 2006;193(10):1394-9.
LST1 +290
A/G
Rollinger-Holzinger I, Eibl B, Pauly M, Griesser U, Hentges F, Auer B, et al. LST1: a gene with extensive alternative splicing and immunomodulatory function. J Immunol. 2000;164(6):3169-76.
IL-4 −589
rs2243250
C/T
Verra F, Luoni G, Calissano C, Troye-Blomberg M, Perlmann P, Perlmann H, et al. IL4-589C/T polymorphism and IgE levels in severe malaria. Acta Trop. 2004;90(2):205-9.
IL-4 +33
rs2070874
C/T
Shibata N, Ohnuma T, Takahashi T, Baba H, Ishizuka T, Ohtsuka M, et al. The effect of IL4 +33C/T polymorphism on risk of Japanese sporadic Alzheimer's disease. Neurosci Lett. 2002;323(2):161-3.
IL-4 +3017
rs2227284
G/T
Basehore MJ, Howard TD, Lange LA, Moore WC, Hawkins GA, Marshik PL, et al. A comprehensive evaluation of IL4 variants in ethnically diverse populations: association of total serum IgE levels and asthma in white subjects. J Allergy Clin Immunol. 2004;114(1):80-7.
IL-13 Q110R
rs20541
G/A
Heinzmann A, Mao XQ, Akaiwa M, Kreomer RT, Gao PS, Ohshima K, et al. Genetic variants of IL-13 signalling and human asthma and atopy. Hum Mol Genet. 2000;9(4):549-59.
IL-4R I50V
rs1805011
A/G
Mitsuyasu H, Yanagihara Y, Mao XQ, Gao PS, Arinobu Y, Ihara K, et al. Cutting edge: dominant effect of Ile50Val variant of the human IL-4 receptor alpha-chain in IgE synthesis. J Immunol. 1999;162(3):1227-31.
IL-5 −746
rs2069812
C/T
Hong SJ, Lee SY, Kim HB, Kim JH, Kim BS, Choi SO, et al. IL-5 and thromboxane A2 receptor gene polymorphisms are associated with decreased pulmonary function in Korean children with atopic asthma. J Allergy Clin Immunol. 2005;115(4):758-63.
IL-13RA1 +1398
A/G
Heinzmann A, Mao XQ, Akaiwa M, Kreomer RT, Gao PS, Ohshima K, et al. Genetic variants of IL-13 signalling and human asthma and atopy. Hum Mol Genet. 2000;9(4):549-59.
CTLA4 −49
rs231775
G/A
Fan LY, Tu XQ, Cheng QB, Zhu Y, Feltens R, Pfeiffer T, et al. Cytotoxic T lymphocyte associated antigen-4 gene polymorphisms confer susceptibility to primary biliary cirrhosis and autoimmune hepatitis in Chinese population. World J Gastroenterol. 2004;10(20):3056-9.
CTLA4 −60
rs3087243
A/G
Brophy K, Ryan AW, Thornton JM, Abuzakouk M, Fitzgerald A P, McLoughlin RM,O'morain C, Kennedy N P, Stevens FM, Feighery C, Kelleher D, McManus R. Haplotypes in the CTLA4 region are associated with coeliac disease in the Irish population. Genes Immun. 2006;7(1):19-26 / Hradsky O, Dusatkova P, Lenicek M, Bronsky J, Nevoral J, Vitek L, Lukas M, Zeniskova I, Cinek O. The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease. BMC Med Genet. 2010;11:91.
CTLA −318
rs5742909
C/T
Fan LY, Tu XQ, Cheng QB, Zhu Y, Feltens R, Pfeiffer T, et al. Cytotoxic T lymphocyte associated antigen-4 gene polymorphisms confer susceptibility to primary biliary cirrhosis and autoimmune hepatitis in Chinese population. World J Gastroenterol. 2004;10(20):3056-9.
SNP: polimorfismo de nucleotídeo único.
