Multiple sclerosis-associated single-nucleotide polymorphisms in CLEC16A correlate with reduced SOCS1 and DEXI expression in the thymus

被引:32
作者
Leikfoss, I. S. [1 ,2 ]
Mero, I-L [1 ,3 ]
Dahle, M. K. [2 ]
Lie, B. A. [3 ]
Harbo, H. F. [1 ,4 ]
Spurkland, A. [2 ]
Berge, T. [1 ,2 ]
机构
[1] Oslo Univ Hosp, Dept Neurol, Oslo, Norway
[2] Univ Oslo, Inst Basic Med Sci, Dept Anat, N-0317 Oslo, Norway
[3] Univ Oslo, Dept Med Genet, N-0317 Oslo, Norway
[4] Univ Oslo, Inst Clin Med, N-0317 Oslo, Norway
关键词
CLEC16A; DEXI; SOCS1; CIITA; multiple sclerosis; autoimmunity; CYTOKINE SIGNALING-1; RHEUMATOID-ARTHRITIS; RISK ALLELES; GENETIC RISK; SUSCEPTIBILITY; SUPPRESSOR; GLUCOCORTICOIDS; REPLICATION; MECHANISMS; VARIANTS;
D O I
10.1038/gene.2012.52
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Genome-wide association studies have revealed that the 16p13 chromosomal region, including CLEC16A, DEXI, CIITA and SOCS1, is associated with susceptibility to autoimmune diseases. As non-coding single-nucleotide polymorphisms (SNPs) may confer susceptibility to disease by affecting expression of nearby genes, we examined whether autoimmune-associated intronic CLEC16A SNPs (rs12708716, rs6498169 and rs7206912) correlate with the expression of CLEC16A itself as well as neighboring genes in whole-blood and thymic samples. Real-time quantitative PCR analyses show that SOCS1 and DEXI expression was lower in thymic samples carrying at least one of the CLEC16A risk alleles compared with non-carriers of the risk allele. Linear regression analysis revealed a significant correlation between the expression level of CLEC16A and that of SOCS1 and DEXI in thymic samples. These data indicate a possible regulatory role for multiple sclerosis-associated non-coding CLEC16A SNPs and a common control mechanism for the expression of CLEC16A, SOCS1 and DEXI. Genes and Immunity (2013) 14, 62-66; doi: 10.1038/gene.2012.52; published online 15 November 2012
引用
收藏
页码:62 / 66
页数:5
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