A polymorphism upstream MIR1279 gene is associated with pericarditis development in Systemic Lupus Erythematosus and contributes to definition of a genetic risk profile for this complication
Restricted accessResearch articleFirst published online July, 2017
A polymorphism upstream MIR1279 gene is associated with pericarditis development in Systemic Lupus Erythematosus and contributes to definition of a genetic risk profile for this complication
Recently, a study has shown that a polymorphism in the region of MIR1279 modulates the expression of the TRAF3IP2 gene. Since polymorphisms in the TRAF3IP2 gene have been described in association with systemic lupus erithematosus (SLE) susceptibility and with the development of pericarditis, our aim is to verify if the MIR1279 gene variability could also be involved. The rs1463335 SNP, located upstream MIR1279 gene, was analyzed by allelic discrimination assay in 315 Italian SLE patients and 201 healthy controls. Moreover, the MIR1279 gene was full sequenced in 50 patients. A case/control association study and a genotype/phenotype correlation analysis were performed. We also constructed a pericarditis genetic risk profile for patients with SLE. The full sequencing of the MIR1279 gene in patients with SLE did not reveal any novel or known variation. The variant allele of the rs1463335 SNP was significantly associated with susceptibility to pericarditis (P = 0.017 and OR = 1.67). A risk profile model for pericarditis considering the risk alleles of MIR1279 and three other genes (STAT4, PTPN2 and TRAF3IP2) showed that patients with 4 or 5 risk alleles have a higher risk of developing pericarditis (OR = 4.09 with P = 0.001 and OR = 6.04 with P = 0.04 respectively). In conclusion, we describe for the first time the contribution of a MIR1279 SNP in pericarditis development in patients with SLE and a genetic risk profile model that could be useful to identify patients more susceptible to developing pericarditis in SLE. This approach could help to improve the prediction and the management of this complication.
KloostermanWPPlasterkRH. The diverse functions of microRNAs in animal development and disease. Dev Cell2006; 11: 441–450.
2.
EstellerM. Non-coding RNAs in human disease. Nat Rev Genet2011; 12: 861–874.
3.
O'ConnellRMRaoDSBaltimoreD. microRNA regulation of inflammatory responses. Annu Rev Immunol2012; 30: 295–312.
4.
RyanBMRoblesAIHarrisCC. Genetic variation in microRNA networks: the implications for cancer research. Nat Rev Cancer2010; 10: 389–402.
5.
JamaliZAsl AminabadiNAttaranRPournagiazarFGhertasi OskoueiSAhmadpourF. MicroRNAs as prognostic molecular signatures in human head and neck squamous cell carcinoma: a systematic review and meta-analysis. Oral Oncol2015; 51: 321–331.
6.
MishraSYadavTRaniV. Exploring miRNA based approaches in cancer diagnostics and therapeutics. Crit Rev Oncol Hematol2016; 98: 12–23.
7.
EgelandNGLundeSJonsdottirK. The role of MicroRNAs as predictors of response to tamoxifen treatment in breast cancer patients. Int J Mol Sci2015; 16: 24243–24275.
8.
OsmaiMOsmaiYBang-BerthelsenCH. microRNAs as regulators of beta-cell function and dysfunction. Diabetes Metab Res Rev2015; 32: 334–349.
9.
VentrigliaGNigiLSebastianiGDottaF. MicroRNAs: novel players in the dialogue between pancreatic islets and immune system in autoimmune diabetes. Biomed Res Int2015; 2015: 749734–749734.
10.
Van HartenACMuldersJScheltensPvan der FlierWMOudejansCB. Differential expression of microRNA in cerebrospinal fluid as a potential novel biomarker for Alzheimer's disease. J Alzheimers Dis2015; 47: 243–252.
ChurovAVOleinikEKKnipM. MicroRNAs in rheumatoid arthritis: altered expression and diagnostic potential. Autoimmun Rev2015; 14: 1029–1037.
13.
SimpsonLJAnselKM. MicroRNA regulation of lymphocyte tolerance and autoimmunity. J Clin Invest2015; 125: 2242–2249.
14.
Perez-HernandezJFornerMJPintoCChavesFJCortesRRedonJ. Increased urinary exosomal microRNAs in patients with systemic lupus erythematosus. PLoS One2015; 10: e0138618–e0138618.
15.
QuBShenN. miRNAs in the pathogenesis of systemic lupus erythematosus. Int J Mol Sci2015; 16: 9557–9572.
16.
GrelicheNZellerTWildPS. Comprehensive exploration of the effects of miRNA SNPs on monocyte gene expression. PLoS One2012; 7: e45863–e45863.
17.
PerriconeCCiccacciCCeccarelliF. TRAF3IP2 gene and systemic lupus erythematosus: association with disease susceptibility and pericarditis development. Immunogenetics2013; 65: 703–709.
18.
CiccacciCPerriconeCCeccarelliF. A multilocus genetic study in a cohort of Italian SLE patients confirms the association with STAT4 gene and describes a new association with HCP5 gene. PLoS One2014; 9: e111991–e111991.
19.
MiyakisSLockshinMDAtsumiT. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost2006; 4: 295–306.
20.
Ghodke-PuranikYNiewoldTB. Immunogenetics of systemic lupus erythematosus: a comprehensive review. J Autoimmun2015 Nov; 64: 125–136.
21.
ChungSATaylorKEGrahamRR. Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. PLoS Genet2011; 7: e1001323–e1001323.
22.
HanJWZhengHFCuiY. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Nat Genet2009; 41: 1234e7–1234e7.
23.
BenthamJMorrisDLCunninghame GrahamDS. Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. Nat Genet2015; 47: 1457–1464.
24.
TeruelMAlarcón-RiquelmeME. Genetics of systemic lupus erythematosus and Sjögren's syndrome: an update. Curr Opin Rheumatol2016; 28: 506–514.
25.
O’ConnellRMRaoDSChaudhuriAABaltimoreD. Physiological and pathological roles for microRNAs in the immune system. Nat Rev Immunol2010; 10: 111–122.
26.
ChanEKCeribelliASatohM. MicroRNA-146a in autoimmunity and innate immune responses. Ann Rheum Dis2013; 72: ii90–95.
27.
XuWDLuMMPanHFYeDQ. Association of MicroRNA-146a with autoimmune diseases. Inflammation2012; 35: 1525–1529.
28.
FuLJinLYanL. Comprehensive review of genetic association studies and meta-analysis on miRNA polymorphisms and rheumatoid arthritis and systemic lupus erythematosus susceptibility. Hum Immunol2016; 77: 1–6.
29.
JiJDChaESLeeWJ. Association of miR-146a polymorphisms with systemic lupus erythematosus: a meta-analysis. Lupus2014; 23: 1023–1030.
30.
IvashchenkoATIssabekovaASBerilloOA. miR-1279, miR-548j, miR-548 m, and miR-548d-5p binding sites in CDSs of paralogous and orthologous PTPN12, MSH6, and ZEB1 genes. Biomed Res Int2013; 2013: 902467–902467.
31.
WuDTangRQiQ. Five functional polymorphisms of B7/CD28 co-signaling molecules alter susceptibility to colorectal cancer. Cell Immunol2015; 293: 41–48.
32.
IssabekovaABerilloORegnierMAnatolyI. Interactions of intergenic microRNAs with mRNAs of genes involved in carcinogenesis. Bioinformation2012; 8: 513–518.
33.
RawlingsDJDaiXBucknerJH. The role of PTPN22 risk variant in the development of autoimmunity: finding common ground between mouse and human. J Immunol2015; 194: 2977–2984.
34.
ZhengJIbrahimSPetersenFYuX. Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the localization of the affected tissue. Genes Immun2012; 13: 641–652.
35.
Rodríguez-RodríguezLTaibWRToplessR. The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in Caucasian case-control samples. Arthritis Rheum2011; 63: 365–372.
36.
OstanekLOstanek-PańkaMBobrowska-SnarskaD. PTPN22 1858C> T gene polymorphism in patients with SLE: association with serological and clinical results. Mol Biol Rep2014; 41: 6195–6200.
37.
ShiLWeiYXunWHanD. Meta-analysis of the correlation between PTPN22 gene polymorphisms and susceptibility to systemic lupus erythematosus. Asia Pac J Public Health2013; 25: 22S–29S.
38.
LeaWWLeeYH. The association between the PTPN22 C1858T polymorphism and systemic lupus erythematosus: a meta-analysis update. Lupus2011; 20: 51–57.
39.
AradiBKatoMFilkovaM. Protein tyrosine phosphatase nonreceptor type 2: an important regulator of interleukin-6 production in rheumatoid arthritis synovial fibroblasts. Arthritis Rheumatol2015; 67: 2624–2633.
40.
CuiYShengYZhangX. Genetic susceptibility to SLE: recent progress from GWAS. J Autoimmun2013; 41: 25–33.
41.
HüffmeierUUebeSEkiciAB. Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet2010; 42: 996–999.
42.
EllinghausEEllinghausDStuartPE. Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. Nat Genet2010; 42: 991–995.
43.
CiccacciCBianconeLDi FuscoD. TRAF3IP2 gene is associated with cutaneous extraintestinal manifestations in inflammatory bowel disease. J Crohns Colitis2013; 7: 44–52.
44.
ZhangJXHeJHWangJ. Associations between PTPN2 polymorphisms and susceptibility to ulcerative colitis and Crohn's disease: a meta-analysis. Inflamm Res2014; 63: 71–79.
45.
CiccacciCConigliaroPPerriconeC. Polymorphisms in STAT4, IL10, PSORS1C1, PTPN2 and MIR146A genes are differently associated with prognostic factors in Italian patients affected by Rheumatoid Arthritis. Clin Exp Immunol2016; 186: 157–163.
46.
SalemMAmmitzboellMNysKSeidelinJBNielsenOH. ATG16L1: a multifunctional susceptibility factor in Crohn disease. Autophagy2015; 11: 585–594.
47.
CeccarelliFPerriconeCBorgianiP. Genetic factors in systemic lupus erythematosus: contribution to disease phenotype. J Immunol Res2015; 2015: 74564–74564.
