The prevalence of SLE and the spectrum of clinical manifestations vary widely in different races and geographical populations.
Objective
To investigate the possible role of ARID5B rs10821936 and rs10994982 polymorphism as a risk factor for the development of SLE in children (jSLE) and to evaluate their role in relation to clinical manifestations especially lupus nephritis (LN).
Methods
DNA extraction and Real-time PCR genotyping of ARID5B rs10821936 and rs10994982 were done for 104 jSLE and 282 healthy controls.
Results
The C allele and C containing genotypes (CC, CT and CC+CT) of ARID5B rs10821936 were higher in children with SLE (p = 0.009, OR = 1.56, 0.037, OR = 2.35, 0.016, OR = 1.81 and 0.008 OR = 1.88 respectively). ARID5B rs10994982 alleles, genotypes and haplotypes are not associated with jSLE (p > 0.05). The ARID5B rs10821936 and rs10994982 genotypes showed non-significant associations with LN, proliferative versus non proliferative and biopsy grades (p > 0.05).
Conclusion
ARID5B rs10821936 SNP may be a susceptibility risk factor for juvenile SLE in the studied cohort of Egyptian children.
MoultonVRSuarez-FueyoAMeidanELiHMizuiMTsokosGC.Pathogenesis of human systemic lupus erythematosus: a cellular perspective. Trends Mol Med2017;
23: 615–635.
2.
DemaBCharlesN.Autoantibodies in SLE: specificities, isotypes and receptors. Antibodies (Basel)2016;
5: 2.
LewisMJJawadAS.The effect of ethnicity and genetic ancestry on the epidemiology, clinical features and outcome of systemic lupus erythematosus. Rheumatology (Oxford)2017;
1: i67–i77.
5.
LinCSongWBiX, et al.
Recent advances in the ARID family: focusing on roles in human cancer. Onco Targets Ther2014;
7: 315–324.
6.
YangWTangHZhangY, et al.
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. Am J Hum Genet2013;
92: 41–51.
7.
JiangLWuJLiW, et al.Rs4948496 within ARID5B gene is associated with clinical features of systemic lupuserythematosus in the Chinese Han population. J Dermatol2015;
42: 608–612.
8.
HochbergMC.Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus [letter]. Arthritis Rheum1997;
40: 1725.
9.
PetriMOrbaiAMAlarcónGS, et al.
Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus. Arthritis Rheum2012;
64: 2677–2686.
TsokosGCLoMSCosta ReisPSullivanKE.New insights into the immuno pathogenesis of systemic lupus erythematosus. Nat Rev Rheumatol2016;
12: 716–730.
19.
WilskerDPatsialouADallasPB, et al.
ARID proteins: a diverse family of DNA binding proteins implicated in the control of cell growth, differentiation, and development. Cell Growth Differ2002;
13: 95–106.
20.
WangGWatanabeMImaiY, et al.
Genetic variations of Mrf-2/ARID5B confer risk of coronary atherosclerosis in the Japanese population. Int Heart J2008;
49: 313–327.
21.
SunLLZhangSJChenMJ, et al.
Relationship between modulator recognition factor 2/at-rich interaction domain 5B gene variations and type 2 diabetes mellitus or lipid metabolism in a Northern Chinese population. Chin Med J (Engl)2017;
130: 1055–1061.
22.
GuoLMXiJSMaY, et al.
ARID5B gene rs10821936 polymorphism is associated with childhood acute lymphoblastic leukemia: a meta-analysis based on 39,116 subjects. Tumor Biol2014;
35: 709–713.
23.
RudantJOrsiLBonaventureA, et al.
Are ARID5B and IKZF1 polymorphisms also associated with childhood acute myeloblastic leukemia: the ESCALE study (SFCE)?Leukemia2013;
27: 746–748.
24.
XuHChengCDevidasM, et al.
ARID5B genetic polymorphisms contribute to racial disparities in the incidence and treatment outcome of childhood acute lymphoblastic leukemia. J Clin Oncol2012;
30: 751–757.
25.
TomerYHashamADaviesTF, et al.
Fine mapping of loci linked to autoimmune thyroid disease identifies novel susceptibility genes. J Clin Endocrinol Metab2013;
98: E144–E152.
26.
OkadaYTeraoCIkariK, et al.
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. Nat Genet2012;
44: 511–516.
27.
MohamedDFAzizABE-DAHassanSA-M, et al.
Juvenile lupus: different clinical and serological presentations compared to adult lupus in Egypt. Egypt Rheumatol2018;
40: 55–58.
28.
BenthamJMorrisDLGrahamDSC, et al.Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. Nat Genet2015;
47: 1457–1464.
29.
Gutierrez-CaminoAMartin-GuerreroIGarcía-OradA.Genetic susceptibility in childhood acute lymphoblastic leukemia. Med Oncol2017;
34: 179.
30.
MosaadYMKhashabaMDarwishA, et al.
ARID5B rs10821936 and rs10994982 gene polymorphisms and acute lymphoblastic leukemia: relation to disease susceptibility and outcome. Pediatr Hematol Oncol2019;
36: 365–375.
31.
PerryGHBen-DorATsalenkaA, et al.The fine-scale and complex architecture of human copy-number variation. Am J Hum Genet2008;
82: 685–695.
32.
GusevALoweJKStoffelM, et al.
Whole population, genome-wide mapping of hidden relatedness. Genome Res2009;
19: 318–326.
33.
PalSGuptaRDavuluriRV.Alternative transcription and alternative splicing in cancer. Pharmacol Ther2012;
136: 283–294.
