Enterovirus RNA in Peripheral Blood May Be Associated with the Variants of rs1990760, a Common Type 1 Diabetes Associated Polymorphism in IFIH1

PLoS ONE

Volumn 7, Issue 11, 2012, Pages

  Cinek, Ondrej ^a   Tapia, German ^b   Witsø, Elisabet ^b   Kramna, Lenka ^a   Holkova, Katerina ^a   Rasmussen, Trond ^b   Stene, Lars C ^b   Rønningen, Kjersti S ^c  

^a CHARLES UNIVERSITY   (Czech Republic)

^b NORWEGIAN INSTITUTE OF PUBLIC HEALTH   (Norway)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; THREONINE; VIRUS RNA;

ARTICLE; BLOOD SAMPLING; CHILD; CONTROLLED STUDY; DNA POLYMORPHISM; ENTEROVIRUS; FECES ANALYSIS; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; IFIH1 GENE; INFANT; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; NEWBORN; NONHUMAN; PLASMA CELL; QUALITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA EXTRACTION;

DEAD-BOX RNA HELICASES; DIABETES MELLITUS, TYPE 1; ENTEROVIRUS; FECES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MULTIVARIATE ANALYSIS; NORWAY; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, VIRAL;

ENTEROVIRUS;

EID: 84868705800     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0048409     Document Type: Article

References (38)

1. Tauriainen S, Oikarinen S, Oikarinen M, Hyoty H, (2010) Enteroviruses in the pathogenesis of type 1 diabetes. Semin Immunopathol.
2. Oikarinen M, Tauriainen S, Honkanen T, Vuori K, Karhunen P, et al. (2008) Analysis of pancreas tissue in a child positive for islet cell antibodies. Diabetologia 51: 1796-1802.
3. Oikarinen M, Tauriainen S, Oikarinen S, Honkanen T, Collin P, et al. (2012) Type 1 diabetes is associated with enterovirus infection in gut mucosa. Diabetes 61: 687-691.
4. Richardson SJ, Willcox A, Bone AJ, Foulis AK, Morgan NG, (2009) The prevalence of enteroviral capsid protein vp1 immunostaining in pancreatic islets in human type 1 diabetes. Diabetologia 52: 1143-1151.
5. Lonnrot M, Salminen K, Knip M, Savola K, Kulmala P, et al. (2000) Enterovirus RNA in serum is a risk factor for beta-cell autoimmunity and clinical type 1 diabetes: a prospective study. Childhood Diabetes in Finland (DiMe) Study Group. J Med Virol 61: 214-220.
6. Oikarinen S, Martiskainen M, Tauriainen S, Huhtala H, Ilonen J, et al. (2011) Enterovirus RNA in Blood Is Linked to the Development of Type 1 Diabetes. Diabetes 60: 276-279.
7. Sadeharju K, Hamalainen AM, Knip M, Lonnrot M, Koskela P, et al. (2003) Enterovirus infections as a risk factor for type I diabetes: virus analyses in a dietary intervention trial. Clin Exp Immunol 132: 271-277.
8. Salminen K, Sadeharju K, Lonnrot M, Vahasalo P, Kupila A, et al. (2003) Enterovirus infections are associated with the induction of beta-cell autoimmunity in a prospective birth cohort study. J Med Virol 69: 91-98.
9. Fuchtenbusch M, Irnstetter A, Jager G, Ziegler AG, (2001) No evidence for an association of coxsackie virus infections during pregnancy and early childhood with development of islet autoantibodies in offspring of mothers or fathers with type 1 diabetes. J Autoimmun 17: 333-340.
10. Graves PM, Rotbart HA, Nix WA, Pallansch MA, Erlich HA, et al. (2003) Prospective study of enteroviral infections and development of beta-cell autoimmunity. Diabetes autoimmunity study in the young (DAISY). Diabetes Res Clin Pract 59: 51-61.
11. Kato H, Takeuchi O, Sato S, Yoneyama M, Yamamoto M, et al. (2006) Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses. Nature 441: 101-105.
12. Gitlin L, Barchet W, Gilfillan S, Cella M, Beutler B, et al. (2006) Essential role of mda-5 in type I IFN responses to polyriboinosinic:polyribocytidylic acid and encephalomyocarditis picornavirus. Proc Natl Acad Sci U S A 103: 8459-8464.
13. Chistiakov DA, (2010) Interferon induced with helicase C domain 1 (IFIH1) and virus-induced autoimmunity: a review. Viral Immunol 23: 3-15.
14. Smyth DJ, Cooper JD, Bailey R, Field S, Burren O, et al. (2006) A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nat Genet 38: 617-619.
15. Enevold C, Oturai AB, Sorensen PS, Ryder LP, Koch-Henriksen N, et al. (2009) Multiple sclerosis and polymorphisms of innate pattern recognition receptors TLR1-10, NOD1-2, DDX58, and IFIH1. J Neuroimmunol 212: 125-131.
16. Martinez A, Santiago JL, Cenit MC, de Las Heras V, de la Calle H, et al. (2008) IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk. Eur J Hum Genet 16: 861-864.
17. Sutherland A, Davies J, Owen CJ, Vaikkakara S, Walker C, et al. (2007) Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility. J Clin Endocrinol Metab 92: 3338-3341.
18. Nejentsev S, Walker N, Riches D, Egholm M, Todd JA, (2009) Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324: 387-389.
19. Downes K, Pekalski M, Angus KL, Hardy M, Nutland S, et al. (2010) Reduced expression of IFIH1 is protective for type 1 diabetes. PLoS One 5.
20. Liu S, Wang H, Jin Y, Podolsky R, Linga Reddy MV, et al. (2008) The IFIH1 Polymorphisms Are Significantly Associated with Type 1 Diabetes and IFIH1 Gene Expression in Peripheral Blood Mononuclear Cells. Hum Mol Genet.
21. Shigemoto T, Kageyama M, Hirai R, Zheng J, Yoneyama M, et al. (2009) Identification of loss of function mutations in human genes encoding RIG-I and MDA5: implications for resistance to type I diabetes. J Biol Chem 284: 13348-13354.
22. Chistiakov DA, Voronova NV, Savost'Anov KV, Turakulov RI, (2010) Loss-of-function mutations E6 27X and I923V of IFIH1 are associated with lower poly(I:C)-induced interferon-beta production in peripheral blood mononuclear cells of type 1 diabetes patients. Hum Immunol 71: 1128-1134.
23. Witsø E, Tapia G, Cinek O, Pociot FM, Stene LC, et al. (2011) Polymorphisms in the innate immune IFIH1 gene, frequency of enterovirus in monthly fecal samples during infancy, and islet autoimmunity. PLoS One 6: e27781.
24. Stene LC, Witso E, Torjesen PA, Rasmussen T, Magnus P, et al. (2007) Islet autoantibody development during follow-up of high-risk children from the general Norwegian population from three months of age: Design and early results from the MIDIA study. Journal of Autoimmunity 29: 44-51.
25. Witsø E, Cinek O, Tapia G, Rasmussen T, Stene LC, et al. (2012) HLA-DRB1-DQA1-DQB1 genotype and frequency of enterovirus in longitudinal monthly fecal samples from healthy infants. Viral Immunol 25.
26. Verstrepen WA, Kuhn S, Kockx MM, Van de Vyvere ME, Mertens AH, (2001) Rapid detection of enterovirus RNA in cerebrospinal fluid specimens with a novel single-tube real-time reverse transcription-PCR assay. J Clin Microbiol 39: 4093-4096.
27. Garcia-Closas M, Lubin JH, (1999) Power and sample size calculations in case-control studies of gene-environment interactions: comments on different approaches. Am J Epidemiol 149: 689-692.
28. Comings DE, MacMurray JP, (2000) Molecular heterosis: a review. Mol Genet Metab 71: 19-31.
29. Aminkeng F, Van Autreve JE, Weets I, Quartier E, Van Schravendijk C, et al. (2009) IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in the Belgian population. Hum Immunol 70: 706-710.
30. Zouk H, Marchand L, Polychronakos C, (2010) Study of transcriptional effects in Cis at the IFIH1 locus. PLoS One 5: e11564.
31. Berke IC, Modis Y, (2012) MDA5 cooperatively forms dimers and ATP-sensitive filaments upon binding double-stranded RNA. EMBO J 31: 1714-1726.
32. Cui S, Eisenacher K, Kirchhofer A, Brzozka K, Lammens A, et al. (2008) The C-terminal regulatory domain is the RNA 5′-triphosphate sensor of RIG-I. Mol Cell 29: 169-179.
33. Schulte BM, Bakkers J, Lanke KH, Melchers WJ, Westerlaken C, et al. (2010) Detection of enterovirus RNA in peripheral blood mononuclear cells of type 1 diabetic patients beyond the stage of acute infection. Viral Immunol 23: 99-104.
34. Pallansch MA, Roos RP (1997) Enteroviruses: Polioviruses, Coxsackieviruses, Echoviruses, and Newer Enteroviruses. In: Knipe DM, Howley PM, editors. Fields' virology. Philadelphia: Lippincott Williams & Wilkins. pp 723-775.
35. Stene LC, Rewers M, (2012) Immunology in the clinic review series; focus on type 1 diabetes and viruses: the enterovirus link to type 1 diabetes: critical review of human studies. Clin Exp Immunol 168: 12-23.
36. Moya-Suri V, Schlosser M, Zimmermann K, Rjasanowski I, Gurtler L, et al. (2005) Enterovirus RNA sequences in sera of schoolchildren in the general population and their association with type 1-diabetes-associated autoantibodies. J Med Microbiol 54: 879-883.
37. Jermendy A, Szatmari I, Laine AP, Lukacs K, Horvath KH, et al. (2010) The interferon-induced helicase IFIH1 Ala946Thr polymorphism is associated with type 1 diabetes in both the high-incidence Finnish and the medium-incidence Hungarian populations. Diabetologia 53: 98-102.
38. Gaunt TR, Rodriguez S, Day IN, (2007) Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'. BMC Bioinformatics 8: 428.