Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases

PLoS Genetics

Volumn 7, Issue 8, 2011, Pages

  Plagnol, Vincent ^a   Howson, Joanna M M ^a   Smyth, Deborah J ^a   Walker, Neil ^a   Hafler, Jason P ^a   Wallace, Chris ^a   Stevens, Helen ^a   Jackson, Laura ^b   Simmonds, Matthew J ^c   Bingley, Polly J ^d   Gough, Stephen C ^c   Todd, John A ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

^c CHURCHILL HOSPITAL   (United Kingdom)

^d UNIVERSITY OF BRISTOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; CELL ANTIGEN; GLUTAMATE DECARBOXYLASE; INSULINOMA ASSOCIATION ANTIGEN 2; PANCREAS ISLET CELL ANTIBODY; THYROID PEROXIDASE ANTIBODY; UNCLASSIFIED DRUG; FCRL1 PROTEIN, HUMAN; FCRL3 PROTEIN, HUMAN; IMMUNOGLOBULIN RECEPTOR; MEMBRANE PROTEIN;

ADOLESCENT; ARTICLE; BACH2 GENE; CHILD; CHROMOSOME 9Q; CONTROLLED STUDY; CTLA4 GENE; DISEASE ASSOCIATION; FCLR3 GENE; GASTRITIS; GENE; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME ANALYSIS; GENOTYPE; GRAVES DISEASE; HUMAN; IFIH1 GENE; IL2 GENE; IL27 INSULINOMA ASSOCIATED ANTIGEN 2 GENE; IL2RA GENE; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; PCA GENE; PRESCHOOL CHILD; PROMOTER REGION; PTPN22 GENE; RASGRP1 GENE; SH2B3 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; STAT4 GENE; STOMACH PARIETAL CELL; UBASH3A GENE; BLOOD GROUP ABO SYSTEM; CHROMOSOME 1; CHROMOSOME 9; GENETICS; IMMUNOLOGY;

ABO BLOOD-GROUP SYSTEM; ADOLESCENT; AUTOANTIBODIES; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 9; DIABETES MELLITUS, TYPE 1; GENOME-WIDE ASSOCIATION STUDY; GRAVES DISEASE; HUMANS; MEMBRANE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, IMMUNOLOGIC;

EID: 80052311755     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002216     Document Type: Article

References (51)

1. Savola K, Sabbah E, Kulmala P, Vähäsalo P, Ilonen J, et al. (1998) Autoantibodies associated with Type I diabetes mellitus persist after diagnosis in children. Diabetologia 41: 1293-1297.
2. Knip M, Korhonen S, Kulmala P, Veijola R, Reunanen A, et al. (2010) Prediction of Type 1 Diabetes in the General Population. Diabetes Care 33: 1206-1212.
3. Wong S, Wen L, Tang M, Ramanathan M, Visintin I, et al. (2004) Investigation of the role of B-cells in type 1 diabetes in the NOD mouse. Diabetes 53: 2581-2587.
4. Pescovitz M, Greenbaum C, Krause-Steinrauf H, Becker D, Gitelman S, et al. (2009) Rituximab, B-lymphocyte depletion, and preservation of beta-cell function. The New England journal of medicine 361: 2143-2152.
5. Silveira P, Grey S, (2006) B cells in the spotlight: innocent bystanders or major players in the pathogenesis of type 1 diabetes. Trends in endocrinology and metabolism: TEM 17: 128-135.
6. Flesher DT, Sun X, Behrens T, Graham R, Criswell L, (2010) Recent advances in the genetics of systemic lupus erythematosus. Expert review of clinical immunology 6: 461-479.
7. Martin S, Wolf-Eichbaum D, Duinkerken G, Scherbaum W, Kolb H, et al. (2001) Development of Type 1 Diabetes despite Severe Hereditary B-Cell Deficiency. New England Journal of Medicine 345: 1036-1040.
8. Petersen J, Marshall M, Bækkeskov S, Hejnæs K, Høier-Madsen M, et al. (1993) Transfer of Type 1 (insulin-dependent) diabetes mellitus associated autoimmunity to mice with severe combined immunodeficiency (SCID). Diabetologia 36: 510-515.
9. Mills DM, Cambier JC, (2003) B lymphocyte activation during cognate interactions with CD4+ T lymphocytes: molecular dynamics and immunologic consequences. Seminars in immunology 15: 325-329.
10. Williams AJ, Aitken RJ, Chandler MA, Gillespie KM, Lampasona V, et al. (2008) Autoantibodies to islet antigen-2 are associated with HLA-DRB1*07 and DRB1*09 haplotypes as well as DRB1*04 at onset of type 1 diabetes: the possible role of HLA-DQA in autoimmunity to IA-2. Diabetologia 51: 1444-1448.
11. Gullstrand C, Wahlberg J, Ilonen J, Vaarala O, Ludvigsson J, (2008) Progression to type 1 diabetes and autoantibody positivity in relation to HLA-risk genotypes in children participating in the ABIS study. Pediatric Diabetes 9: 182-190.
12. Mariotti S, Caturegli P, Piccolo P, Barbesino G, Pinchera A, (1990) Antithyroid peroxidase autoantibodies in thyroid diseases. The Journal of clinical endocrinology and metabolism 71: 661-669.
13. Jeffries GH, Sleisenger MH, (1965) Studies of parietal cell antibody in pernicious anemia. The Journal of clinical investigation 44: 2021-2028.
14. Wang X, Jia S, Geoffrey R, Alemzadeh R, Ghosh S, et al. (2008) Identification of a molecular signature in human type 1 diabetes mellitus using serum and functional genomics. Journal of immunology (Baltimore, Md: 1950) 180: 1929-1937.
15. Hollowell J, Staehling N, Flanders D, Hannon H, Gunter E, et al. (2002) Serum TSH, T(4), and thyroid antibodies in the United States population (1988 to 1994): National Health and Nutrition Examination Survey (NHANES III). The Journal of clinical endocrinology and metabolism 87: 489-499.
16. Howson, Dunger, Nutland, Stevens, Wicker, et al. (2007) A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene. Diabetologia 50: 741-746.
17. Warncke K, Frohlich-Reiterer E, Thon A, Hofer S, Wiemann D, et al. (2010) Polyendocrinopathy in Children, Adolescents, and Young Adults With Type 1 Diabetes. Diabetes Care 33: 2010-2012.
18. Kochi Y, Yamada R, Suzuki A, Harley J, Shirasawa S, et al. (2005) A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities. Nature Genetics 37: 478-485.
19. Wellcome Trust Case Control Consortium (2007) Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nature Genetics 39: 1329-1337.
20. Plagnol V, Smyth DJ, Todd JA, Clayton DG, (2008) Statistical independence of the colocalized association signals for type 1 diabetes and RPS26 gene expression on chromosome 12q13. Biostatistics 10: 327-334.
21. Paré G, Chasman DI, Kellogg M, Zee RY, Rifai N, et al. (2008) Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women. PLoS Genet 4: e1000118 doi:10.1371/journal.pgen.1000118.
22. Paterson A, Lopes-Virella M, Waggott D, Boright A, Hosseini M, et al. (2009) Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin. Arteriosclerosis, thrombosis, and vascular biology 29: 1958-1967.
23. Edgren G, Hjalgrim H, Rostgaard K, Norda R, Wikman A, et al. (2010) Risk of Gastric Cancer and Peptic Ulcers in Relation to ABO Blood Type: A Cohort Study. American Journal of Epidemiology 172: 1280-1285.
24. Amundadottir L, Kraft P, Stolzenberg-Solomon R, Fuchs C, Petersen G, et al. (2009) Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. Nature Genetics 41: 986-990.
25. Franke A, McGovern D, Barrett J, Wang K, Radford-Smith G, et al. (2010) Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nature Genetics 42: 1118-1125.
26. McGovern D, Jones M, Taylor K, Marciante K, Yan X, et al. (2010) Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. Human Molecular Genetics 19: 3468-3476.
27. Barrett J, Clayton D, Concannon P, Akolkar B, Cooper J, et al. (2009) Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nature Genetics 41: 703-707.
28. Benjamini Y, Hochberg Y, (1995) Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing. Journal of the Royal Statistical Society Series B (Methodological) 57: 289-300.
29. Maziarz M, Janer M, Roach JC, Hagopian W, Palmer JP, et al. (2010) The association between the PTPN22 1858C>T variant and type 1 diabetes depends on HLA risk and GAD65 autoantibodies. Genes and Immunity 11: 406-415.
30. Zhernakova A, van Diemen C, Wijmenga C, (2009) Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nature Review Genetics 10: 43-55.
31. Gateva V, Sandling J, Hom G, Taylor K, Chung S, et al. (2009) A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nature Genetics 41: 1228-1233.
32. Special Edition on Lupus Genetics (2002) Genes and Immunity 3.
33. Dubois P, Trynka G, Franke L, Hunt K, Romanos J, et al. (2010) Multiple common variants for celiac disease influencing immune gene expression. Nature Genetics 42: 295-302.
34. Vandewalle CL, Falorni A, Lernmark A, Goubert P, Dorchy H, et al. (1997) Associations of GAD65- and IA-2- autoantibodies with genetic risk markers in new-onset IDDM patients and their siblings. The Belgian Diabetes Registry. Diabetes care 20: 1547-1552.
35. Graham J, Hagopian W, Kockum I, Li LS, Sanjeevi C, et al. (2002) Genetic effects on age-dependent onset and islet cell autoantibody markers in type 1 diabetes. Diabetes 51: 1346-1355.
36. Qu H-Q, Polychronakos C, (2009) The effect of the MHC locus on autoantibodies in type 1 diabetes. Journal of medical genetics.
37. Knip M, Kukko M, Kulmala P, Veijola R, Simell O, et al. (2002) Humoral beta-cell autoimmunity in relation to HLA-defined disease susceptibility in preclinical and clinical type 1 diabetes. American journal of medical genetics 115: 48-54.
38. Kordonouri O, Hartmann R, Charpentier N, Knip M, Danne T, et al. (2010) Genetic risk markers related to diabetes-associated autoantibodies in young patients with type 1 diabetes in berlin, Germany. Experimental and clinical endocrinology & diabetes 118: 245-249.
39. Kondrashova A, Viskari H, Haapala A-M, Seiskari T, Kulmala P, et al. (2008) Serological evidence of thyroid autoimmunity among schoolchildren in two different socioeconomic environments. The Journal of clinical endocrinology and metabolism 93: 729-734.
40. Lindberg B, Carlsson A, Ericsson UB, Kockum I, Lernmark A, et al. (1999) Prevalence of beta-cell and thyroid autoantibody positivity in schoolchildren during three-year follow-up. Autoimmunity 31: 175-185.
41. Rose N, MacKay I, eds. (1998) The Autoimmune Diseases, third edition Academic Press.
42. Roep BO, Duinkerken G, Schreuder GM, Kolb H, de Vries RR, et al. (1996) HLA-associated inverse correlation between T cell and antibody responsiveness to islet autoantigen in recent-onset insulin-dependent diabetes mellitus. European journal of immunology 26: 1285-1289.
43. Swainson L, Mold J, Bajpai U, McCune J, (2010) Expression of the Autoimmune Susceptibility Gene FcRL3 on Human Regulatory T Cells Is Associated with Dysfunction and High Levels of Programmed Cell Death-1. The Journal of Immunology 184: 3639-3647.
44. Lindén S, Mahdavi J, Semino-Mora C, Olsen C, Carlstedt I, et al. (2008) Role of ABO Secretor Status in Mucosal Innate Immunity and H. pylori Infection. PLoS Path 4: e2 doi:10.1371/journal.ppat.0040002.
45. Umlauft F, Keeffe EB, Offner F, Weiss G, Feichtinger H, et al. (1996) Helicobacter pylori infection and blood group antigens: lack of clinical association. The American journal of gastroenterology 91: 2135-2138.
46. Alkout A, Blackwell C, Weir D, (2000) Increased Inflammatory Responses of Persons of Blood Group O to Helicobacter pylori. Journal of Infectious Diseases 181: 1364-1369.
47. Roberts JA, (1957) Blood groups and susceptibility to disease: a review. British journal of preventive & social medicine 11: 107-125.
48. Callender S, Langman MJ, Macleod IN, Mosbech J, Nielsen KR, (1971) ABO blood groups in patients with gastric carcinoma associated with pernicious anaemia. Gut 12: 465-467.
49. Hoskins LC, Loux HA, Britten A, Zamcheck N, (1965) Distribution of ABO blood groups in patients with pernicious anemia, gastric carcinoma and gastric carcinoma associated with pernicious anemia. The New England journal of medicine 273: 633-637.
50. Maier L, Anderson D, Severson C, Baecher-Allan C, Healy B, et al. (2009) Soluble IL-2RA levels in multiple sclerosis subjects and the effect of soluble IL-2RA on immune responses. Journal of immunology 182: 1541-1547.
51. Marciulionyte D, Williams AJ, Bingley PJ, Urbonaite B, Gale EA, (2001) A comparison of the prevalence of islet autoantibodies in children from two countries with differing incidence of diabetes. Diabetologia 44: 16-21.