Journal of Rheumatic Diseases

Table. 2.

Summary of studies on genetic predisposition of BD in Korean population

Author Year Method Patient number Outcome
Kwon et al. [45] 2019 Genotyping for 20 targeted mitochondrial SNPs 98 BD patients196 controls m.16812A>C and m.16183A>C are more frequently observed in BD patients than controls
Kang et al. [39] 2017 Genotyping for SNPs in IL23R-IL12RB2, IL10, STAT4, and ERAP1 369 BD patients2000 controls IL23R-IL12RB2 intergenic SNPs rs1495965, rs1495966, rs4655535 significantly associated with BD risk
Kang et al. [40] 2014 Genotyping of 24 SNPs in JAK1, STAT3, and TYK2 223 BD patients222 controls No association with SNPs in IL-10 mediated signaling pathways (JAK1, TYK2, STAT3)
Lee et al. [46] 2013 GWAS using Affymetrix genome-wide human SNP array 6.0 379 BD patients800 controls Association of BD to GIMAP locus on chromosome 7q36, as well as an association with four SNPs: rs1522596 in GIMAP4, rs10266069 and rs10256482 in GIMAP2, and rs2286900 in GIMAP1
Kim et al. [42] 2012 Genotyping for SNPs in IL17A, IL23R, and STAT4 TT genotype of IL17A rs8193036 and GG+GT genotype of IL23R rs1884444 associated with development of intestinal BD
Kang et al. [43] 2011 Genotyping for HLA-A locus 223 BD patients1,398 controls HLA-A*02:07, A*26:01, and A*30.04 increased risk for BD; HLA-A*33:03 decreased risk for BD
Park et al. [47] 2009 Investigation of polymorphisms of promoter region and exon 1 of CTLA4 gene 285 BD patients287 controls CTLA4-1661 GG and CTLA4-1722 TC genotypes significantly higher in BD patients than controls. CTLA4-1722 CC genotype significantly lower in BD patients with ocular symptoms
Kim et al. [48] 2006 Analysis of three polymorphisms in SLC11A gene (5'promoter (GT)n, D543N, A318V) 99 BD patients98 controls Allele 3 and genotype allele3/allele 3 of 5'-promoter (GT)n in SLC11A1 gene had significantly lower risk of developing BD than control
Park et al. [49] 2002 Investigation of MICA polymorphism in relation to HLA-B51 positivity and BD clinical manifestations 108 BD patients204 controls MICA*A6, rather than HLA-B51 positivity, is more strongly associated with Korean BD patients

BD: Behçet’s disease.

J Rheum Dis 2021;28:183~191 https://doi.org/10.4078/jrd.2021.28.4.183
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