Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European Cohorts

PLoS ONE

Volumn 9, Issue 3, 2014, Pages

  Mitchell, Anna L ^a   Macarthur, Katie D R ^a   Gan, Earn H ^a   Baggott, Lucy E ^a   Wolff, Anette S B ^b   Skinningsrud, Beate ^c,d   Platt, Hazel ^e   Short, Andrea ^e   Lobell, Anna ^f   Kam̈pe, Olle ^f   Bensing, Sophie ^f,g   Betterle, Corrado ^h   Kasperlik Zaluska, Anna ⁱ   Zurawek, Magdalena ^j   Fichna, Marta ^j   Kockum, Ingrid ^g   Eriksson, Gabriel Nordling ^g   Ekwall, Olov ^k   Wahlberg, Jeanette ^l   Dahlqvist, Per ^m   Hulting, Anna Lena ^g   Penna Martinez, Marissa ⁿ   Meyer, Gesine ⁿ   Kahles, Heinrich ⁿ   Badenhoop, Klaus ⁿ   Hahner, Stephanie ^o   Quinkler, Marcus ^p   Falorni, Alberto ^q   Phipps Green, Amanda ^r   Merriman, Tony R ^r   Ollier, William ^e   Cordell, Heather J ^a   Undlien, Dag ^c,d   Czarnocka, Barbara ⁱ   Husebye, Eystein ^b,s   Pearce, Simon H S ^a   more..

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF BERGEN   (Norway)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d UNIVERSITY OF OSLO   (Norway)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

^f UPPSALA UNIVERSITY   (Sweden)

^g KAROLINSKA INSTITUTE   (Sweden)

^h UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

ⁱ MEDICAL CENTER FOR POSTGRADUATE EDUCATION   (Poland)

^j INSTITUTE OF HUMAN GENETICS   (Poland)

^k UNIVERSITY OF GOTHENBURG   (Sweden)

^l LINKÖPING UNIVERSITY   (Sweden)

^m UMEÅ UNIVERSITY   (Sweden)

ⁿ UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^o UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^p CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^q UNIVERSITY OF PERUGIA   (Italy)

^r UNIVERSITY OF OTAGO   (New Zealand)

^s HAUKELAND UNIVERSITY HOSPITAL   (Norway)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450; CYTOCHROME P450 27B1; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 23P19; STAT4 PROTEIN; TRANSCRIPTION FACTOR GATA 3; UNCLASSIFIED DRUG; GATA3 PROTEIN, HUMAN; STAT4 PROTEIN, HUMAN;

ADDISON DISEASE; ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; AUTOIMMUNE ADDISON DISEASE; AUTOIMMUNE DISEASE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; CYP27B1 GENE; DISEASE ASSOCIATION; EUROPE; FEMALE; GATA3 GENE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC HETEROGENEITY; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GEOGRAPHIC DISTRIBUTION; GERMANY; HUMAN; IL23A GENE; MAJOR CLINICAL STUDY; MALE; NF KAPPAB1 GENE; NORWAY; POLAND; SINGLE NUCLEOTIDE POLYMORPHISM; STAT4 GENE; SWEDEN; CASE CONTROL STUDY; CAUCASIAN; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; GENOTYPING TECHNIQUE; INFANT; MIDDLE AGED; NEWBORN; PRESCHOOL CHILD; UNITED KINGDOM; VERY ELDERLY; YOUNG ADULT;

ADDISON DISEASE; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALLELES; AUTOIMMUNE DISEASES; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GATA3 TRANSCRIPTION FACTOR; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPING TECHNIQUES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; NORWAY; STAT4 TRANSCRIPTION FACTOR; UNITED KINGDOM; YOUNG ADULT;

EID: 84897516697     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0088991     Document Type: Article

References (34)

1. Lovas K, Husebye ES (2002) High prevalence and increasing incidence of Addison's disease in western Norway. Clin Endocrinol (Oxf). 56: 787-91. (Pubitemid 34785911)
2. Laureti S, Vecchi L, Santeusanio F, Falorni A (1999) Is the prevalence of Addison's disease underestimated? J Clin Endocrinol Metab 84: 1762.
3. Smith ME, Gough J, Galpin OP (1963) ADDISON'S DISEASE IN IDENTICAL TWINS. Br Med J 2: 1316.
4. Heggarty H (1968) Addison's disease in identical twins. Br Med J 1: 559.
5. Russell GA, Coulter JB, Isherwood DM, Diver MJ, Smith DS (1991) Autoimmune Addison's disease and thyrotoxic thyroiditis presenting as encephalopathy in twins. Arch Dis Child 66: 350-2.
6. Simmonds JP, Lister J (1978) Auto-immune Addison's disease in identical twins. Postgrad Med J 54: 552-4. (Pubitemid 9043800)
7. Fairchild RS, Schimke RN, Abdou NI (1980) Immunoregulation abnormalities in familial Addison's disease. J Clin Endocrinol Metab 51: 1074-7. (Pubitemid 11225464)
8. Hewitt PH (1957) Addison's disease occurring in sisters. Br Med J 2: 1530-1.
9. Lander ES, Schork NJ (1994) Genetic dissection of complex traits. Science 265: 2037-48. (Pubitemid 24325685)
10. Maclaren NK, Riley WJ (1986) Inherited susceptibility to autoimmune Addison's disease is linked to human leukocyte antigens-DR3 and/or DR4, except when associated with type I autoimmune polyglandular syndrome. J Clin Endocrinol Metab 62: 455-9. (Pubitemid 16138159)
11. Myhre AG, Undlien DE, Løvås K, Uhlving S, Nedrebø BG, et al. (2002) Autoimmune adrenocortical failure in Norway autoantibodies and human leukocyte antigen class II associations related to clinical features. J Clin Endocrinol Metab 87: 618-23. (Pubitemid 34158227)
12. Gombos Z, Hermann R, Kiviniemi M, Nejentsev S, Reimand K, et al. (2007) Analysis of extended human leukocyte antigen haplotype association with Addison's disease in three populations. Eur J Endocrinol 157: 757-61.
13. Skinningsrud B, Lie BA, Lavant E, Carlson JA, Erlich H, et al. (2011) Multiple loci in the HLA complex are associated with Addison's disease. J Clin Endocrinol Metab 96: 1703-8.
14. Kahles H, Ramos-Lopez E, Lange B, Zwermann O, Reincke M, et al. (2005) Sex-specific association of PTPN22 1858T with type 1 diabetes but not with Hashimoto's thyroiditis or Addison's disease in the German population. Eur J Endocrinol 153: 895-9. (Pubitemid 43020241)
15. Velaga MR, Wilson V, Jennings CE, Owen CJ, Herington S, et al. (2004) The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 89: 5862-5. (Pubitemid 39518482)
16. Blomhoff A, Lie BA, Myrhe AG, Kemp EH, Weetman AP, et al. (2004) Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease. J Clin Endocrinol Metab 89: 3474-6. (Pubitemid 38951923)
17. Vaidya B, Imrie H, Geatch DR, Perros P, Ball SG, et al. (2000) Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE-1) genes in sporadic autoimmune Addison's disease. J Clin Endocrinol Metab 85: 688-91. (Pubitemid 32273655)
18. Pani MA, Regulla K, Segni M, Hofmann S, Hüfner M, et al. (2002) A polymorphism within the vitamin D-binding protein gene is associated with Graves' disease but not with Hashimoto's thyroiditis. J Clin Endocrinol Metab 87: 2564-7. (Pubitemid 34655314)
19. Skinningsrud B, Lie BA, Husebye ES, Kvien TK, Førre Ø, et al. (2010) A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis. Ann Rheum Dis 69: 1471-4.
20. The International HapMap Consortium (2003) The International HapMap Project. Nature 426: 789-96.
21. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-5. (Pubitemid 40202029)
22. The Cochrane Collaboration (2011) Review Manager (RevMan) [Computer program]. Version 5.0. Copenhagen: The Nordic Cochrane Centre.
23. Dudbridge F (2008) Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data. Hum Hered 66: 87-98.
24. Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, et al. (2007) STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 357: 977-86. (Pubitemid 47367077)
25. Lee HS, Remmers EF, Le JM, Kastner DL, Bae SC, et al. (2007) Association of STAT4 with rheumatoid arthritis in the Korean population. Mol Med 13: 455-60. (Pubitemid 47585739)
26. Korman BD, Alba MI, Le JM, Alevizos I, Smith JA, et al. (2008) Variant form of STAT4 is associated with primary Sjögren's syndrome. Genes Immun 9: 267-70. (Pubitemid 351584194)
27. Tai TS, Pai SY, Ho IC (2013) GATA-3 regulates the homeostasis and activation of CD8+ T cells. J Immunol 190: 428-37.
28. Eyre S, Bowes J, Diogo D, Lee A, Barton A, et al. (2012) High density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nature Genetics 44: 1336-1340.
29. Lopez ER, Zwermann O, Segni M, Meyer G, Reincke M, et al. (2004) A promoter polymorphism of the CYP27B1 gene is associated with Addison's disease, Hashimoto's thyroiditis, Graves' disease and type 1 diabetes mellitus in Germans. Eur J Endocrinol 151: 193-7. (Pubitemid 39207014)
30. Jennings CE, Owen CJ, Wilson V, Pearce SH (2005) A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population. J Mol Endocrinol 34: 859-63. (Pubitemid 40903607)
31. Fichna M, Zurawek M, Januszkiewicz-Lewandowska D, Gryczyñska M, Fichna P, et al. (2010) Association of the CYP27B1 C(-1260)A polymorphism with autoimmune Addison's disease. Exp Clin Endocrinol Diabetes 118: 544-9.
32. Cooper JD, Smyth DJ, Walker NM, Stevens H, Burren OS, et al. (2011) Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes. Diabetes 60: 1624-31.
33. Badenhoop K, Kahles H, Penna-Martinez M (2012) Vitamin D, immune tolerance, and prevention of type 1 diabetes. Curr Diab Rep 12: 635-42.
34. Cross DS, Ivacic LC, Stefanski EL, McCarty CA (2010) Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. BMC Genet 11: 51.