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Volumn 13, Issue 8, 2012, Pages 632-640

Age-dependent variation of genotypes in MHC II transactivator gene (CIITA) in controls and association to type 1 diabetes

(26)  Gyllenberg, A a   Asad, S b   Piehl, F a   Swanberg, M a   Padyukov, L c   Van Yserloo, B d   Rutledge, E A e   McNeney, B f   Graham, J f   Orho Melander, M g   Lindholm, E g   Graff, C a,c   Forsell, C a,c   Akesson K g,h,l   Landin Olsson, M g   Carlsson, A g   Forsander, G i   Ivarsson, S A g   Larsson, H g   Lindblad, B j   more..


Author keywords

age; association; autoimmunity; CIITA; type 1 diabetes (T1D)

Indexed keywords

MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; TRANSACTIVATOR PROTEIN;

EID: 84870882497     PISSN: 14664879     EISSN: 14765470     Source Type: Journal    
DOI: 10.1038/gene.2012.44     Document Type: Article
Times cited : (23)

References (49)
  • 1
    • 0029022917 scopus 로고
    • Genetic analysis of type 1 diabetes using whole genome approaches
    • Todd JA. Genetic analysis of type 1 diabetes using whole genome approaches. Proc Natl Acad Sci USA 1995; 92: 8560-8565.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 8560-8565
    • Todd, J.A.1
  • 3
    • 0032964464 scopus 로고    scopus 로고
    • Negative association between type 1 diabetes and HLA DQB1*0602- DQA1*0102 is attenuated with age at onset
    • Swedish Childhood Diabetes Study Group
    • Graham J, Kockum I, Sanjeevi CB, Landin-Olsson M, Nystrom L, Sundkvist G et al. Negative association between type 1 diabetes and HLA DQB1*0602- DQA1*0102 is attenuated with age at onset. Swedish Childhood Diabetes Study Group. Eur J Immunogenet 1999; 26: 117-127.
    • (1999) Eur J Immunogenet , vol.26 , pp. 117-127
    • Graham, J.1    Kockum, I.2    Sanjeevi, C.B.3    Landin-Olsson, M.4    Nystrom, L.5    Sundkvist, G.6
  • 4
    • 0034194473 scopus 로고    scopus 로고
    • CIITA is a transcriptional coactivator that is recruited to MHC class II promoters by multiple synergistic interactions with an enhanceosome complex
    • Masternak K, Muhlethaler-Mottet A, Villard J, Zufferey M, Steimle V, Reith W. CIITA is a transcriptional coactivator that is recruited to MHC class II promoters by multiple synergistic interactions with an enhanceosome complex. Genes Dev 2000; 14: 1156-1166.
    • (2000) Genes Dev , vol.14 , pp. 1156-1166
    • Masternak, K.1    Muhlethaler-Mottet, A.2    Villard, J.3    Zufferey, M.4    Steimle, V.5    Reith, W.6
  • 5
    • 0029075521 scopus 로고
    • Human MHC class II gene transcription directed by the carboxyl terminus of CIITA, one of the defective genes in type II MHC combined immune deficiency
    • Zhou H, Glimcher LH. Human MHC class II gene transcription directed by the carboxyl terminus of CIITA, one of the defective genes in type II MHC combined immune deficiency. Immunity 1995; 2: 545-553.
    • (1995) Immunity , vol.2 , pp. 545-553
    • Zhou, H.1    Glimcher, L.H.2
  • 6
    • 0028142430 scopus 로고
    • Regulation of MHC class II expression by interferon-gamma mediated by the transactivator gene CIITA
    • Steimle V, Siegrist CA, Mottet A, Lisowska-Grospierre B, Mach B. Regulation of MHC class II expression by interferon-gamma mediated by the transactivator gene CIITA. Science 1994; 265: 106-109.
    • (1994) Science , vol.265 , pp. 106-109
    • Steimle, V.1    Siegrist, C.A.2    Mottet, A.3    Lisowska-Grospierre, B.4    MacH, B.5
  • 7
    • 0027446688 scopus 로고
    • Major histocompatibility complex class II deficiency: Clinical manifestations, immunologic features, and outcome
    • Klein C, Lisowska-Grospierre B, LeDeist F, Fischer A, Griscelli C. Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome. J Pediatr 1993; 123: 921-928.
    • (1993) J Pediatr , vol.123 , pp. 921-928
    • Klein, C.1    Lisowska-Grospierre, B.2    Ledeist, F.3    Fischer, A.4    Griscelli, C.5
  • 8
    • 0030949011 scopus 로고    scopus 로고
    • Expression of MHC class II molecules in different cellular and functional compartments is controlled by differential usage of multiple promoters of the transactivator CIITA
    • Muhlethaler-Mottet A, Otten LA, Steimle V, Mach B. Expression of MHC class II molecules in different cellular and functional compartments is controlled by differential usage of multiple promoters of the transactivator CIITA. EMBO J 1997; 16: 2851-2860.
    • (1997) EMBO J , vol.16 , pp. 2851-2860
    • Muhlethaler-Mottet, A.1    Otten, L.A.2    Steimle, V.3    MacH, B.4
  • 9
    • 4644342017 scopus 로고    scopus 로고
    • MHC class II expression is differentially regulated in plasmacytoid and conventional dendritic cells
    • LeibundGut-Landmann S, Waldburger JM, Reis e Sousa C, Acha-Orbea H, Reith W. MHC class II expression is differentially regulated in plasmacytoid and conventional dendritic cells. Nat Immunol 2004; 5: 899-908.
    • (2004) Nat Immunol , vol.5 , pp. 899-908
    • Leibundgut-Landmann, S.1    Waldburger, J.M.2    Reise Sousa, C.3    Acha-Orbea, H.4    Reith, W.5
  • 10
    • 0034129698 scopus 로고    scopus 로고
    • Analysis of CIITA encoding AIR-1 gene promoters in insulin-dependent diabetes mellitus and rheumatoid arthritis patients from the northeast of Italy: Absence of sequence variability
    • Sartoris S, Brendolan A, Degola A, Testi MG, Chignola R, Scarpa A et al. Analysis of CIITA encoding AIR-1 gene promoters in insulin-dependent diabetes mellitus and rheumatoid arthritis patients from the northeast of Italy: absence of sequence variability. Hum Immunol 2000; 61: 599-604.
    • (2000) Hum Immunol , vol.61 , pp. 599-604
    • Sartoris, S.1    Brendolan, A.2    Degola, A.3    Testi, M.G.4    Chignola, R.5    Scarpa, A.6
  • 11
    • 0035212224 scopus 로고    scopus 로고
    • A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: Identification of new loci with evidence of interactions
    • Nerup J, Pociot F. A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions. Am J Hum Genet 2001; 69: 1301-1313.
    • (2001) Am J Hum Genet , vol.69 , pp. 1301-1313
    • Nerup, J.1    Pociot, F.2
  • 13
    • 0036319041 scopus 로고    scopus 로고
    • Genetic effects on age-dependent onset and islet cell autoantibody markers in type 1 diabetes
    • Graham J, Hagopian WA, Kockum I, Li LS, Sanjeevi CB, Lowe RM et al. Genetic effects on age-dependent onset and islet cell autoantibody markers in type 1 diabetes. Diabetes 2002; 51: 1346-1355.
    • (2002) Diabetes , vol.51 , pp. 1346-1355
    • Graham, J.1    Hagopian, W.A.2    Kockum, I.3    Li, L.S.4    Sanjeevi, C.B.5    Lowe, R.M.6
  • 14
    • 82255192188 scopus 로고    scopus 로고
    • Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease
    • Trynka G, Hunt KA, Bockett NA, Romanos J, Mistry V, Szperl A et al. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet 2011; 43: 1193-1201.
    • (2011) Nat Genet , vol.43 , pp. 1193-1201
    • Trynka, G.1    Hunt, K.A.2    Bockett, N.A.3    Romanos, J.4    Mistry, V.5    Szperl, A.6
  • 15
    • 20944445879 scopus 로고    scopus 로고
    • MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction
    • Swanberg M, Lidman O, Padyukov L, Eriksson P, Akesson E, Jagodic M et al. MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction. Nat Genet 2005; 37: 486-494.
    • (2005) Nat Genet , vol.37 , pp. 486-494
    • Swanberg, M.1    Lidman, O.2    Padyukov, L.3    Eriksson, P.4    Akesson, E.5    Jagodic, M.6
  • 16
    • 34347272254 scopus 로고    scopus 로고
    • Multiple factors affect the loss of measurable C-peptide over 6 years in newly diagnosed 15-to 35-year-old diabetic subjects
    • Jensen RA, Gilliam LK, Torn C, Landin-Olsson M, Karlsson FA, Palmer JP et al. Multiple factors affect the loss of measurable C-peptide over 6 years in newly diagnosed 15-to 35-year-old diabetic subjects. J Diabetes Complications 2007; 21: 205-213.
    • (2007) J Diabetes Complications , vol.21 , pp. 205-213
    • Jensen, R.A.1    Gilliam, L.K.2    Torn, C.3    Landin-Olsson, M.4    Karlsson, F.A.5    Palmer, J.P.6
  • 17
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14 000 cases of seven common diseases and 3000 shared controls
    • Consortium WTCC
    • Consortium WTCC. Genome-wide association study of 14 000 cases of seven common diseases and 3000 shared controls. Nature 2007; 447: 661-678.
    • (2007) Nature , vol.447 , pp. 661-678
  • 21
    • 75649103221 scopus 로고    scopus 로고
    • SNPs from the wellcome trust case control consortium genome-wide association study in type i diabetes families
    • Follow-up of 1715
    • Cooper JD, Walker NM, Smyth DJ, Downes K, Healy BC, Todd JA. Follow-up of 1715. SNPs from the Wellcome Trust Case Control Consortium genome-wide association study in type I diabetes families. Genes Immun 2009; 10(Suppl 1): S85-S94.
    • (2009) Genes Immun , vol.10 , Issue.SUPPL. 1
    • Cooper, J.D.1    Walker, N.M.2    Smyth, D.J.3    Downes, K.4    Healy, B.C.5    Todd, J.A.6
  • 22
    • 4444303972 scopus 로고    scopus 로고
    • The genetics of HLA-associated disease
    • Larsen CE, Alper CA. The genetics of HLA-associated disease. Curr Opin Immunol 2004; 16: 660-667.
    • (2004) Curr Opin Immunol , vol.16 , pp. 660-667
    • Larsen, C.E.1    Alper, C.A.2
  • 23
    • 33750945171 scopus 로고    scopus 로고
    • Investigation of the MHC2TA gene, associated with rheumatoid arthritis in a Swedish population, in a UK rheumatoid arthritis cohort
    • Eyre S, Bowes J, Spreckley K, Potter C, Ring S, Strachan D et al. Investigation of the MHC2TA gene, associated with rheumatoid arthritis in a Swedish population, in a UK rheumatoid arthritis cohort. Arthritis Rheum 2006; 54: 3417-3422.
    • (2006) Arthritis Rheum , vol.54 , pp. 3417-3422
    • Eyre, S.1    Bowes, J.2    Spreckley, K.3    Potter, C.4    Ring, S.5    Strachan, D.6
  • 24
    • 33847346001 scopus 로고    scopus 로고
    • MHC2TA promoter polymorphism (-168*G/A, rs3087456) is not associated with susceptibility to rheumatoid arthritis in British Caucasian rheumatoid arthritis patients
    • Harrison P, Pointon JJ, Farrar C, Harin A, Wordsworth BP. MHC2TA promoter polymorphism (-168*G/A, rs3087456) is not associated with susceptibility to rheumatoid arthritis in British Caucasian rheumatoid arthritis patients. Rheumatology (Oxford) 2007; 46: 409-411.
    • (2007) Rheumatology (Oxford) , vol.46 , pp. 409-411
    • Harrison, P.1    Pointon, J.J.2    Farrar, C.3    Harin, A.4    Wordsworth, B.P.5
  • 25
    • 34347341846 scopus 로고    scopus 로고
    • Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
    • Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007; 39: 857-864.
    • (2007) Nat Genet , vol.39 , pp. 857-864
    • Todd, J.A.1    Walker, N.M.2    Cooper, J.D.3    Smyth, D.J.4    Downes, K.5    Plagnol, V.6
  • 26
    • 0026720089 scopus 로고
    • Islet cell and thyrogastric antibodies in 633 consecutive 15-to 34-yr-old patients in the diabetes incidence study in Sweden
    • Landin-Olsson M, Karlsson FA, Lernmark A, Sundkvist G. Islet cell and thyrogastric antibodies in 633 consecutive 15-to 34-yr-old patients in the diabetes incidence study in Sweden. Diabetes 1992; 41: 1022-1027.
    • (1992) Diabetes , vol.41 , pp. 1022-1027
    • Landin-Olsson, M.1    Karlsson, F.A.2    Lernmark, A.3    Sundkvist, G.4
  • 27
    • 0024511641 scopus 로고
    • The Swedish childhood diabetes study-results from a nine year case register and a one year case-referent study indicating that type 1 (insulin-dependent) diabetes mellitus is associated with both type 2 (non-insulin-dependent) diabetes mellitus and autoimmune disorders
    • Dahlquist G, Blom L, Tuvemo T, Nystrom L, Sandstrom A, Wall S. The Swedish childhood diabetes study-results from a nine year case register and a one year case-referent study indicating that type 1 (insulin-dependent) diabetes mellitus is associated with both type 2 (non-insulin-dependent) diabetes mellitus and autoimmune disorders. Diabetologia 1989; 32: 2-6.
    • (1989) Diabetologia , vol.32 , pp. 2-6
    • Dahlquist, G.1    Blom, L.2    Tuvemo, T.3    Nystrom, L.4    Sandstrom, A.5    Wall, S.6
  • 28
    • 84860783172 scopus 로고    scopus 로고
    • Low risk HLA-DQ and increased body mass index in newly diagnosed type 1 diabetes children in the Better Diabetes Diagnosis study in Sweden
    • Carlsson A, Kockum I, Lindblad B, Engleson L, Nilsson A, Forsander G et al. Low risk HLA-DQ and increased body mass index in newly diagnosed type 1 diabetes children in the Better Diabetes Diagnosis study in Sweden. Int J Obes (Lond) 2012; 36: 718-724.
    • (2012) Int J Obes (Lond) , vol.36 , pp. 718-724
    • Carlsson, A.1    Kockum, I.2    Lindblad, B.3    Engleson, L.4    Nilsson, A.5    Forsander, G.6
  • 30
    • 0041885145 scopus 로고    scopus 로고
    • Quantification of the influence of cigarette smoking on rheumatoid arthritis: Results from a population based case-control study, using incident cases
    • Stolt P, Bengtsson C, Nordmark B, Lindblad S, Lundberg I, Klareskog L et al. Quantification of the influence of cigarette smoking on rheumatoid arthritis: results from a population based case-control study, using incident cases. Ann Rheum Dis 2003; 62: 835-841.
    • (2003) Ann Rheum Dis , vol.62 , pp. 835-841
    • Stolt, P.1    Bengtsson, C.2    Nordmark, B.3    Lindblad, S.4    Lundberg, I.5    Klareskog, L.6
  • 32
    • 40049083702 scopus 로고    scopus 로고
    • The interleukin 23 receptor gene in multiple sclerosis: A case-control study
    • Roos IM, Kockum I, Hillert J. The interleukin 23 receptor gene in multiple sclerosis: a case-control study. J Neuroimmunol 2008; 194: 173-180.
    • (2008) J Neuroimmunol , vol.194 , pp. 173-180
    • Roos, I.M.1    Kockum, I.2    Hillert, J.3
  • 33
    • 70349305736 scopus 로고    scopus 로고
    • Tobacco smoking, but not Swedish snuff use, increases the risk of multiple sclerosis
    • Hedstrom AK, Baarnhielm M, Olsson T, Alfredsson L. Tobacco smoking, but not Swedish snuff use, increases the risk of multiple sclerosis. Neurology 2009; 73: 696-701.
    • (2009) Neurology , vol.73 , pp. 696-701
    • Hedstrom, A.K.1    Baarnhielm, M.2    Olsson, T.3    Alfredsson, L.4
  • 34
    • 34447556836 scopus 로고    scopus 로고
    • Positive association between risk for late-onset Alzheimer disease and genetic variation in IDE
    • Bjork BF, Katzov H, Kehoe P, Fratiglioni L, Winblad B, Prince JA et al. Positive association between risk for late-onset Alzheimer disease and genetic variation in IDE. Neurobiol Aging 2007; 28: 1374-1380.
    • (2007) Neurobiol Aging , vol.28 , pp. 1374-1380
    • Bjork, B.F.1    Katzov, H.2    Kehoe, P.3    Fratiglioni, L.4    Winblad, B.5    Prince, J.A.6
  • 36
    • 29044434138 scopus 로고    scopus 로고
    • Increased bone density and decreased bone turnover, but no evident alteration of fracture susceptibility in elderly women with diabetes mellitus
    • Gerdhem P, Isaksson A, Akesson K, Obrant KJ. Increased bone density and decreased bone turnover, but no evident alteration of fracture susceptibility in elderly women with diabetes mellitus. Osteoporos Int 2005; 16: 1506-1512.
    • (2005) Osteoporos Int , vol.16 , pp. 1506-1512
    • Gerdhem, P.1    Isaksson, A.2    Akesson, K.3    Obrant, K.J.4
  • 37
    • 33646890858 scopus 로고    scopus 로고
    • Elevated expression and genetic association links the SOCS3 gene to atopic dermatitis
    • Ekelund E, Saaf A, Tengvall-Linder M, Melen E, Link J, Barker J et al. Elevated expression and genetic association links the SOCS3 gene to atopic dermatitis. Am J Hum Genet 2006; 78: 1060-1065.
    • (2006) Am J Hum Genet , vol.78 , pp. 1060-1065
    • Ekelund, E.1    Saaf, A.2    Tengvall-Linder, M.3    Melen, E.4    Link, J.5    Barker, J.6
  • 38
    • 0035147075 scopus 로고    scopus 로고
    • Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (DASH): Design criteria and assay validation
    • Prince JA, Feuk L, Howell WM, Jobs M, Emahazion T, Blennow K et al. Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (DASH): design criteria and assay validation. Genome Res 2001; 11: 152-162.
    • (2001) Genome Res , vol.11 , pp. 152-162
    • Prince, J.A.1    Feuk, L.2    Howell, W.M.3    Jobs, M.4    Emahazion, T.5    Blennow, K.6
  • 39
    • 33749010061 scopus 로고    scopus 로고
    • Genetic mapping at 3-kilobase resolution reveals inositol 1 4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in sweden
    • Roach JC, Deutsch K, Li S, Siegel AF, Bekris LM, Einhaus DC et al. Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in sweden. Am J Hum Genet 2006; 79: 614-627.
    • (2006) Am J Hum Genet , vol.79 , pp. 614-627
    • Roach, J.C.1    Deutsch, K.2    Li, S.3    Siegel, A.F.4    Bekris, L.M.5    Einhaus, D.C.6
  • 40
    • 0026691249 scopus 로고
    • HLA-DR typing by PCR amplification with sequencespecific primers (PCR-SSP) in 2 h: An alternative to serological DR typing in clinical practice including donor-recipient matching in cadaveric transplantation
    • Olerup O, Zetterquist H. HLA-DR typing by PCR amplification with sequencespecific primers (PCR-SSP) in 2 h: an alternative to serological DR typing in clinical practice including donor-recipient matching in cadaveric transplantation. Tissue Antigen 1992; 39: 225-235.
    • (1992) Tissue Antigen , vol.39 , pp. 225-235
    • Olerup, O.1    Zetterquist, H.2
  • 41
    • 35348853966 scopus 로고    scopus 로고
    • A highthroughput population screening system for the estimation of genetic risk for type 1 diabetes: An application for the TEDDY (the Environmental Determinants of Diabetes in the Young) study
    • Kiviniemi M, Hermann R, Nurmi J, Ziegler AG, Knip M, Simell O et al. A highthroughput population screening system for the estimation of genetic risk for type 1 diabetes: an application for the TEDDY (the Environmental Determinants of Diabetes in the Young) study. Diabetes Technol Ther 2007; 9: 460-472.
    • (2007) Diabetes Technol Ther , vol.9 , pp. 460-472
    • Kiviniemi, M.1    Hermann, R.2    Nurmi, J.3    Ziegler, A.G.4    Knip, M.5    Simell, O.6
  • 43
    • 0037480726 scopus 로고    scopus 로고
    • HaploBlockFinder: Haplotype block analyses
    • Zhang K, Jin L. HaploBlockFinder: haplotype block analyses. Bioinformatics 2003; 19: 1300-1301.
    • (2003) Bioinformatics , vol.19 , pp. 1300-1301
    • Zhang, K.1    Jin, L.2
  • 44
    • 2442658957 scopus 로고    scopus 로고
    • Haplotype block partitioning and tag SNP selection using genotype data and their applications to association studies
    • Zhang K, Qin ZS, Liu JS, Chen T, Waterman MS, Sun F. Haplotype block partitioning and tag SNP selection using genotype data and their applications to association studies. Genome Res 2004; 14: 908-916.
    • (2004) Genome Res , vol.14 , pp. 908-916
    • Zhang, K.1    Qin, Z.S.2    Liu, J.S.3    Chen, T.4    Waterman, M.S.5    Sun, F.6
  • 46
    • 82655181838 scopus 로고    scopus 로고
    • Recoding preventive exposures to get valid measures of interaction on an additive scale
    • Knol MJ, VanderWeele TJ. Recoding preventive exposures to get valid measures of interaction on an additive scale. Eur J Epidemiol 2011; 26: 825-826.
    • (2011) Eur J Epidemiol , vol.26 , pp. 825-826
    • Knol, M.J.1    Vanderweele, T.J.2
  • 47
    • 5344244656 scopus 로고    scopus 로고
    • R Development Core Team R Foundation for Statistical Computing: Vienna Austria
    • R Development Core Team. R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing: Vienna, Austria, 2008.
    • (2008) R: A Language and Environment for Statistical Computing
  • 48
    • 41649094148 scopus 로고    scopus 로고
    • Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data
    • Dudbridge F. Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data. Hum Hered 2008; 66: 87-98.
    • (2008) Hum Hered , vol.66 , pp. 87-98
    • Dudbridge, F.1
  • 49
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263-265.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4


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