Association of IFIH1 and pro-inflammatory mediators: Potential new clues in SLE-associated pathogenesis

PLoS ONE

Volumn 12, Issue 2, 2017, Pages

  Munroe, Melissa E ^a   Pezant, Nathan ^a   Brown, Michael A ^a,b   Fife, Dustin A ^a   Guthridge, Joel M ^a   Kelly, Jennifer A ^a   Wiley, Graham ^a   Gaffney, Patrick M ^a   James, Judith A ^a,c   Montgomery, Courtney G ^a,b  

^a OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

^b UNIVERSITY OF OKLAHOMA HEALTH SCIENCES CENTER   (United States)

^c UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; BETA INTERFERON; GAMMA INTERFERON INDUCIBLE PROTEIN 10; INTERFERON INDUCED HELICASE C DOMAIN CONTAINING PROTEIN 1; INTERLEUKIN 6; TUMOR NECROSIS FACTOR; AUTACOID; CXCL10 PROTEIN, HUMAN; IFIH1 PROTEIN, HUMAN; IL6 PROTEIN, HUMAN;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; EUROPEAN AMERICAN; FEMALE; FIRST-DEGREE RELATIVE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; IFIH1 GENE; LIMIT OF DETECTION; MAJOR CLINICAL STUDY; MALE; MOUSE; NONHUMAN; PATHOGENESIS; PROTEIN BLOOD LEVEL; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS; AGED; ANIMAL; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MIDDLE AGED;

ADULT; AGED; ANIMALS; CHEMOKINE CXCL10; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFLAMMATION MEDIATORS; INTERFERON-BETA; INTERFERON-INDUCED HELICASE, IFIH1; INTERLEUKIN-6; LUPUS ERYTHEMATOSUS, SYSTEMIC; MICE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; TUMOR NECROSIS FACTOR-ALPHA;

EID: 85014020744     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0171193     Document Type: Article

References (30)

1. Fujinami RS, Oldstone MB. Amino acid homology between the encephalitogenic site of myelin basic protein and virus: mechanism for autoimmunity. Science. 1985; 230(4729):1043-5. PMID: 2414848
2. 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(2):199-212. doi: 10.1016/j. immuni.2013.12.014 PMID: 24530055
3. Nejentsev S, Walker N, Riches D, Egholm M, Todd JA. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science. 2009; 324(5925):387-9. PubMed Central PMCID: PMC2707798. doi: 10.1126/science.1167728 PMID: 19264985
4. Molineros JE, Maiti AK, Sun C, Looger LL, 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 genetics. 2013; 9(2):e1003222. PubMed Central PMCID: PMC3575474. doi: 10.1371/journal.pgen.1003222 PMID: 23441136
5. Robinson T, Kariuki SN, Franek BS, Kumabe M, Kumar AA, 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(3):1298-303. PubMed Central PMCID: PMC3304466. doi: 10. 4049/jimmunol.1100857 PMID: 21705624
6. Munroe ME, Young KA, Kamen DL, Guthridge JM, Niewold TB, Costenbader KH, et al. Soluble Mediators and Clinical Features Discern Risk of Transitioning to Classified Disease in Relatives of Systemic Lupus Erythematosus Patients. Arthritis & rheumatology. 2016;In Press.
7. Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1997; 40(9):1725. Epub 1997/10/27.
8. Laustrup H, Heegaard NH, Voss A, Green A, Lillevang ST, Junker P. Autoantibodies and self-reported health complaints in relatives of systemic lupus erythematosus patients: a community based approach. Lupus. 2004; 13(10):792-9. doi: 10.1191/0961203304lu2015oa PMID: 15540512
9. Bruner BF, Guthridge JM, Lu R, Vidal G, Kelly JA, Robertson JM, et al. Comparison of autoantibody specificities between traditional and bead-based assays in a large, diverse collection of patients with systemic lupus erythematosus and family members. Arthritis Rheum. 2012; 64(11):3677-86. Epub 2012/11/01. PubMed Central PMCID: PMC3490432. doi: 10.1002/art.34651 PMID: 23112091
10. Cortes A, Brown MA. Promise and pitfalls of the Immunochip. Arthritis Res Ther. 2011; 13(1):101. Epub 2011/02/25. doi: 10.1186/ar3204 PMID: 21345260
11. Shah T, Liu J, Floyd J, Morris JA, Wirth N, Barrett JC, et al. optiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants. Bioinformatics. 2012; 28(12):1598-603. doi: 10.1093/ bioinformatics/bts180 PMID: 22500001
12. Morris JA, Randall JC, Maller JB, Barrett JC. Evoker: a visualization tool for genotype intensity data. Bioinformatics. 2010; 26(14):1786-7. doi: 10.1093/bioinformatics/btq280 PMID: 20507892
13. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nature genetics. 2006; 38(8):904-9. doi: 10.1038/ng1847 PMID: 16862161
14. Munroe ME, Vista ES, Guthridge JM, Thompson LF, Merrill JT, James JA. Pro-inflammatory adaptive cytokines and shed tumor necrosis factor receptors are elevated preceding systemic lupus erythematosus disease flare. Arthritis & rheumatology. 2014; 66(7):1888-99. PubMed Central PMCID: PMC4128244.
15. Dupont NC, Wang K, Wadhwa PD, Culhane JF, Nelson EL. Validation and comparison of luminex multiplex cytokine analysis kits with ELISA: determinations of a panel of nine cytokines in clinical sample culture supernatants. J Reprod Immunol. 2005; 66(2):175-91. Epub 2005/07/21. doi: 10.1016/j.jri.2005. 03.005 PMID: 16029895
16. Dossus L, Becker S, Achaintre D, Kaaks R, Rinaldi S. Validity of multiplex-based assays for cytokine measurements in serum and plasma from "non-diseased" subjects: comparison with ELISA. J Immunol Methods. 2009; 350(1-2):125-32. Epub 2009/09/15. doi: 10.1016/j.jim.2009.09.001 PMID: 19748508
17. Champely S, Ekstrom C, Dalgaard P, Gill J, Weibelzahl S, De Rosario H. Basic Functions for Power Analysis. 2016.
18. Machiela MJ, Chanock SJ. LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants. Bioinformatics. 2015; 31 (21):3555-7. PubMed Central PMCID: PMCPMC4626747. doi: 10.1093/bioinformatics/btv402 PMID: 26139635
19. Kong KO, Tan AW, Thong BY, Lian TY, Cheng YK, Teh CL, et al. Enhanced expression of interferoninducible protein-10 correlates with disease activity and clinical manifestations in systemic lupus erythematosus. Clin Exp Immunol. 2009; 156(1):134-40. Epub 2009/01/30. PubMed Central PMCID: PMC2673751. doi: 10.1111/j.1365-2249.2009.03880.x PMID: 19175619
20. Swaak AJ, van Rooyen A, Aarden LA. Interleukin-6 (IL-6) and acute phase proteins in the disease course of patients with systemic lupus erythematosus. Rheumatology international. 1989; 8(6):263-8. PMID: 2471249
21. Kawai T, Takahashi K, Sato S, Coban C, Kumar H, Kato H, et al. IPS-1, an adaptor triggering RIG-Iand Mda5-mediated type I interferon induction. Nat Immunol. 2005; 6(10):981-8. doi: 10.1038/ni1243 PMID: 16127453
22. Kumar H, Kawai T, Kato H, Sato S, Takahashi K, Coban C, et al. Essential role of IPS-1 in innate immune responses against RNA viruses. J Exp Med. 2006; 203(7):1795-803. PubMed Central PMCID: PMCPMC2118350. doi: 10.1084/jem.20060792 PMID: 16785313
23. Lu R, Munroe ME, Guthridge JM, Bean KM, Fife DA, Chen H, et al. Dysregulation of Innate and Adaptive Serum Mediators Precedes Systemic Lupus Erythematosus Classification and Improves Prognostic Accuracy of Autoantibodies J Autoimmun. 2016;Epub Ahead of Print.
24. Munroe ME, Lu R, Zhao YD, Fife DA, Robertson JM, Guthridge JM, et al. Altered type II interferon precedes autoantibody accrual and elevated type I interferon activity prior to systemic lupus erythematosus classification. Ann Rheum Dis. 2016;Epub Ahead of Print. Epub 25 Jan 2016.
25. Flesher DL, Sun X, Behrens TW, Graham RR, Criswell LA. Recent advances in the genetics of systemic lupus erythematosus. Expert review of clinical immunology. 2010; 6(3):461-79. PubMed Central PMCID: PMC2897739. doi: 10.1586/eci.10.8 PMID: 20441431
26. Guryev V, Smits BM, van de Belt J, Verheul M, Hubner N, Cuppen E. Haplotype block structure is conserved across mammals. PLoS genetics. 2006; 2(7):e121. PubMed Central PMCID: PMC1523234. doi: 10.1371/journal.pgen.0020121 PMID: 16895449
27. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, et al. dbSNP: the NCBI database of genetic variation. Nucleic acids research. 2001; 29(1):308-11. PubMed Central PMCID: PMC29783. PMID: 11125122
28. Cheung CL, Chan V, Kung AW. A differential association of ALOX15 polymorphisms with bone mineral density in pre-and post-menopausal women. Human heredity. 2008; 65(1):1-8. doi: 10.1159/ 000106057 PMID: 17652958
29. Beaulieu LM, Lin E, Mick E, Koupenova M, Weinberg EO, Kramer CD, et al. Interleukin 1 receptor 1 and interleukin 1beta regulate megakaryocyte maturation, platelet activation, and transcript profile during inflammation in mice and humans. Arteriosclerosis, thrombosis, and vascular biology. 2014; 34(3):552-64. PubMed Central PMCID: PMC4070375. doi: 10.1161/ATVBAHA.113.302700 PMID: 24458711
30. Ehlers CL, Walter NA, Dick DM, Buck KJ, Crabbe JC. A comparison of selected quantitative trait loci associated with alcohol use phenotypes in humans and mouse models. Addiction biology. 2010; 15 (2):185-99. PubMed Central PMCID: PMC2848508. doi: 10.1111/j.1369-1600.2009.00195.x PMID: 20148779