Cumulative effect of IFIH1 variants and increased gene expression associated with type 1 diabetes

Diabetes Research and Clinical Practice

Volumn 107, Issue 2, 2015, Pages 259-266

  Zurawek, Magdalena ^a   Fichna, Marta ^a,b   Fichna, Piotr ^b   Skowronska, Bogda ^b   Dzikiewicz Krawczyk, Agnieszka ^a   Januszkiewicz, Danuta ^a,b   Nowak, Jerzy ^a  

^a POLISH ACADEMY OF SCIENCES   (Poland)

^b POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

Author keywords

Cumulative effect of variants; Gene expression; IFIH1; T1D; Variants

Indexed keywords

MESSENGER RNA;

ARTICLE; AUTOIMMUNITY; CAUCASIAN; CHILD; COHORT ANALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; CUMULATIVE GENETIC RISK SCORE; FEMALE; GENE; GENE DOSAGE; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; IFIH1 GENE; IMMUNOREGULATION; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PERIPHERAL BLOOD MONONUCLEAR CELL; POLAND; RISK FACTOR; SCHOOL CHILD; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; UPREGULATION;

EID: 84964253687     PISSN: 01688227     EISSN: 18728227     Source Type: Journal    
DOI: 10.1016/j.diabres.2014.11.008     Document Type: Article

References (48)

1. Hathout E.H., Hartwick N., Fagoaga O.R., Colacino A.R., Sharkey J., Racine M., et al. Clinical, autoimmune, and HLA characteristics of children diagnosed with type 1 diabetes before 5 years of age. Pediatrics 2003, 111:860-863.
2. Harjutsalo V., Sjoberg L., Tuomilehto J. Time trends in the incidence of type 1 diabetes in Finnish children: a cohort study. Lancet 2008, 371:1777-1782.
3. Bluestone J.A., Herold K., Eisenbarth G. Genetics, pathogenesis and clinical interventions in type 1 diabetes. Nature 2010, 464:1293-1300.
4. Davies J.L., Kawaguchi Y., Bennett S.T., Copeman J.B., Cordell H.J., Pritchard L.E., et al. A genome-wide search for human type 1 diabetes susceptibility genes. Nature 1994, 371:130-136.
5. Redondo M.J., Yu L., Hawa M., Mackenzie T., Pyke D.A., Eisenbarth G.S., et al. Heterogeneity of type I diabetes: analysis of monozygotic twins in Great Britain and the United States. Diabetologia 2001, 44:354-362.
6. Barratt B.J., Payne F., Lowe C.E., Hermann R., Healy B.C., Harold D., et al. Remapping the insulin gene/IDDM2 locus in type 1 diabetes. Diabetes 2004, 53:1884-1889.
7. Bell G.I., Horita S., Karam J.H. A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes 1984, 33:176-183.
8. Bottini N., Musumeci L., Alonso A., Rahmouni S., Nika K., Rostamkhani M., et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004, 36:337-338.
9. Ueda H., Howson J.M., Esposito L., Heward J., Snook H., Chamberlain G., et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003, 423:506-511.
10. Wasmuth H.E., Kolb H. Cow's milk and immune-mediated diabetes. Proc Nutr Soc 2000, 59:573-579.
11. Beyan H., Riese H., Hawa M.I., Beretta G., Davidson H.W., Hutton J.C., et al. Glycotoxin and autoantibodies are additive environmentally determined predictors of type 1 diabetes: a twin and population study. Diabetes 2012, 61:1192-1198.
12. Todd J.A. Etiology of type 1 diabetes. Immunity 2010, 32:457-467.
13. Wen L., Ley R.E., Volchkov P.Y., Stranges P.B., Avanesyan L., Stonebraker A.C., et al. Innate immunity and intestinal microbiota in the development of type 1 diabetes. Nature 2008, 455:1109-1113.
14. Hyoty H., Taylor K.W. The role of viruses in human diabetes. Diabetologia 2002, 45:1353.
15. Roivainen M. Enteroviruses: new findings on the role of enteroviruses in type 1 diabetes. Int J Biochem Cell Biol 2006, 38:721-725.
16. Fourlanos S., Varney M.D., Tait B.D., Morahan G., Honeyman M.C., Colman P.G., et al. The rising incidence of type 1 diabetes is accounted for by cases with lower-risk human leukocyte antigen genotypes. Diabetes Care 2008, 31:1546-1549.
17. Vehik K., Hamman R.F., Lezotte D., Norris J.M., Klingensmith G.J., Rewers M., et al. Trends in high-risk HLA susceptibility genes among Colorado youth with type 1 diabetes. Diabetes Care 2008, 31:1392-1396.
18. Gillespie K.M., Bain S.C., Barnett A.H., Bingley P.J., Christie M.R., Gill G.V., et al. The rising incidence of childhood type 1 diabetes and reduced contribution of high-risk HLA haplotypes. Lancet 2004, 364:1699-1700.
19. Smyth D.J., Cooper J.D., Bailey R., Field S., Burren O., Smink L.J., et al. A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nat Genet 2006, 38:617-619.
20. Nejentsev S., Walker N., Riches D., Egholm M., Todd J.A. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 2009, 324:387-389.
21. Barrett J.C., Clayton D.G., Concannon P., Akolkar B., Cooper J.D., Erlich H.A., et al. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet 2009, 41:703-707.
22. Gateva V., Sandling J.K., Hom G., Taylor K.E., Chung S.A., Sun X., et al. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet 2009, 41:1228-1233.
23. Genetic Analysis of Psoriasis C, the Wellcome Trust Case Control C, Strange A., Capon F., Spencer C.C., Knight J., et al. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet 2010, 42:985-990.
24. Jermendy A., Szatmari I., Laine A.P., Lukacs K., Horvath K.H., Korner A., et al. 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 2010, 53:98-102.
25. Liu S., Wang H., Jin Y., Podolsky R., Reddy M.V., Pedersen J., et al. IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells. Hum Mol Genet 2009, 18:358-365.
26. Reddy M.V., Wang H., Liu S., Bode B., Reed J.C., Steed R.D., et al. Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population. Genes Immun 2011, 12:208-212.
27. Kato H., Takeuchi O., Sato S., Yoneyama M., Yamamoto M., Matsui K., et al. Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses. Nature 2006, 441:101-105.
28. Gitlin L., Benoit L., Song C., Cella M., Gilfillan S., Holtzman M.J., et al. Melanoma differentiation-associated gene 5 (MDA5) is involved in the innate immune response to Paramyxoviridae infection in vivo. PLoS Pathog 2010, 6:e1000734.
29. Satoh T., Kato H., Kumagai Y., Yoneyama M., Sato S., Matsushita K., et al. LGP2 is a positive regulator of RIG-I- and MDA5-mediated antiviral responses. Proc Natl Acad Sci U S A 2010, 107:1512-1517.
30. World Health Organization Definition and diagnosis of diabetes mellitus and intermediate hyperglycemia 2003, www.who.int/diabetes.publications.
31. Barrett J.C., Fry B., Maller J., Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
32. Liyanarachchi S., Wojcicka A., Li W., Czetwertynska M., Stachlewska E., Nagy R., et al. Cumulative risk impact of five genetic variants associated with papillary thyroid carcinoma. Thyroid 2013, 23:1532-1540.
33. Stetson D.B., Medzhitov R. Type I interferons in host defense. Immunity 2006, 25:373-381.
34. Horwitz M.S., Bradley L.M., Harbertson J., Krahl T., Lee J., Sarvetnick N. Diabetes induced by Coxsackie virus: initiation by bystander damage and not molecular mimicry. Nat Med 1998, 4:781-785.
35. Devendra D., Eisenbarth G.S. Interferon alpha - a potential link in the pathogenesis of viral-induced type 1 diabetes and autoimmunity. Clin Immunol 2004, 111:225-233.
36. McCartney S.A., Vermi W., Lonardi S., Rossini C., Otero K., Calderon B., et al. RNA sensor-induced type I IFN prevents diabetes caused by a beta cell-tropic virus in mice. J Clin Invest 2011, 121:1497-1507.
37. Penna-Martinez M., Ramos-Lopez E., Robbers I., Kahles H., Hahner S., Willenberg H., et al. The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease. BMC Med Genet 2009, 10:126.
38. Martinez A., Varade J., Lamas J.R., Fernandez-Arquero M., Jover J.A., de la Concha E.G., et al. Association of the IFIH1-GCA-KCNH7 chromosomal region with rheumatoid arthritis. Ann Rheum Dis 2008, 67:137-138.
39. Sutherland A., Davies J., Owen C.J., Vaikkakara S., Walker C., Cheetham T.D., et al. Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility. J Clin Endocrinol Metab 2007, 92:3338-3341.
40. Couturier N., Gourraud P.A., Cournu-Rebeix I., Gout C., Bucciarelli F., Edan G., et al. IFIH1-GCA-KCNH7 locus is not associated with genetic susceptibility to multiple sclerosis in French patients. Eur J Hum Genet 2009, 17:844-847.
41. Martinez A., Santiago J.L., Cenit M.C., de Las Heras V., de la Calle H., Fernandez-Arquero M., et al. IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk. Eur J Hum Genet 2008, 16:861-864.
42. Winkler C., Lauber C., Adler K., Grallert H., Illig T., Ziegler A.G., et al. An interferon-induced helicase (IFIH1) gene polymorphism associates with different rates of progression from autoimmunity to type 1 diabetes. Diabetes 2011, 60:685-690.
43. Downes K., Pekalski M., Angus K.L., Hardy M., Nutland S., Smyth D.J., et al. Reduced expression of IFIH1 is protective for type 1 diabetes. PLOS ONE 2010, 5.
44. Zouk H., Marchand L., Polychronakos C. Study of transcriptional effects in Cis at the IFIH1 locus. PLOS ONE 2010, 5:e11564.
45. Robinson T., Kariuki S.N., Franek B.S., Kumabe M., Kumar A.A., Badaracco M., et al. Autoimmune disease risk variant of IFIH1 is associated with increased sensitivity to IFN-alpha and serologic autoimmunity in lupus patients. J Immunol 2011, 187:1298-1303.
46. Molineros J.E., Maiti A.K., Sun C., Looger L.L., Han S., Kim-Howard X., et al. Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production. PLoS Genet 2013, 9:e1003222.
47. Funabiki M., Kato H., Miyachi Y., Toki H., Motegi H., Inoue M., et al. Autoimmune disorders associated with gain of function of the intracellular sensor MDA5. Immunity 2014, 40:199-212.
48. Aida K., Nishida Y., Tanaka S., Maruyama T., Shimada A., Awata T., et al. RIG-I- and MDA5-initiated innate immunity linked with adaptive immunity accelerates beta-cell death in fulminant type 1 diabetes. Diabetes 2011, 60:884-889.