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本文引用的文献

1
The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis.多发性硬化症全血 mRNA 转录组和遗传关联表明特定 T 细胞途径在发病机制中失调。
Hum Mol Genet. 2010 Jun 1;19(11):2134-43. doi: 10.1093/hmg/ddq090. Epub 2010 Feb 27.
2
Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.全基因组关联研究在多发性硬化症高危隔离人群中发现 STAT3 基因相关变异。
Am J Hum Genet. 2010 Feb 12;86(2):285-91. doi: 10.1016/j.ajhg.2010.01.017.
3
Epigenetics: molecular mechanisms and implications for disease.表观遗传学：分子机制与疾病的关联。
Trends Mol Med. 2010 Jan;16(1):7-16. doi: 10.1016/j.molmed.2009.11.003. Epub 2009 Dec 21.
4
Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.全面随访多发性硬化症的首个全基因组关联研究，确定 KIF21B 和 TMEM39A 为易感性基因座。
Hum Mol Genet. 2010 Mar 1;19(5):953-62. doi: 10.1093/hmg/ddp542. Epub 2009 Dec 9.
5
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.全基因组关联研究在12号和20号染色体上发现新的多发性硬化症易感基因座。
Nat Genet. 2009 Jul;41(7):824-8. doi: 10.1038/ng.396. Epub 2009 Jun 14.
6
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.全基因组扫描的荟萃分析及重复验证确定CD6、IRF8和TNFRSF1A为新的多发性硬化症易感基因座。
Nat Genet. 2009 Jul;41(7):776-82. doi: 10.1038/ng.401. Epub 2009 Jun 14.
7
Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility.HLA - DRB1、HLA - DQA1和HLA - DQB1基因座之间的上位性决定了多发性硬化症的易感性。
Proc Natl Acad Sci U S A. 2009 May 5;106(18):7542-7. doi: 10.1073/pnas.0812664106. Epub 2009 Apr 20.
8
Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor.复制分析确定酪氨酸激酶2（TYK2）为多发性硬化症的易感因素。
Eur J Hum Genet. 2009 Oct;17(10):1309-13. doi: 10.1038/ejhg.2009.41. Epub 2009 Mar 18.
9
The role of the CD58 locus in multiple sclerosis.CD58基因座在多发性硬化症中的作用。
Proc Natl Acad Sci U S A. 2009 Mar 31;106(13):5264-9. doi: 10.1073/pnas.0813310106. Epub 2009 Feb 23.
10
Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.利用遗传隔离群体鉴定罕见病变异：5号染色体短臂上的C7与多发性硬化症相关。
Hum Mol Genet. 2009 May 1;18(9):1670-83. doi: 10.1093/hmg/ddp073. Epub 2009 Feb 16.

全基因组关联研究中单核苷酸多态性对多发性硬化症基因表达的影响。

The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.

机构信息

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.

出版信息

PLoS One. 2010 Apr 13;5(4):e10142. doi: 10.1371/journal.pone.0010142.

DOI:10.1371/journal.pone.0010142
PMID:20405052
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2854120/
Abstract

BACKGROUND

Multiple sclerosis (MS) is a complex neurological disorder. Its aetiology involves both environmental and genetic factors. Recent genome-wide association studies have identified a number of single nucleotide polymorphisms (SNPs) associated with susceptibility to (MS). We investigated whether these genetic variations were associated with alteration in gene expression.

METHODS/PRINCIPAL FINDINGS: We used a database of mRNA expression and genetic variation derived from immortalised peripheral lymphocytes to investigate polymorphisms associated with MS for correlation with gene expression. Several SNPs were found to be associated with changes in expression: in particular two with HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DRB1, HLA-DRB4 and HLA-DRB5, one with ZFP57, one with CD58, two with IL7 and FAM164A, and one with FAM119B, TSFM and KUB3. We found minimal cross-over with a recent whole genome expression study in MS patients.

DISCUSSION

We have shown that many susceptibility loci in MS are associated with changes in gene expression using an unbiased expression database. Several of these findings suggest novel gene candidates underlying the effects of MS-associated genetic variation.

摘要

背景

多发性硬化症（MS）是一种复杂的神经疾病。其病因涉及环境和遗传因素。最近的全基因组关联研究已经确定了一些与易感性（MS）相关的单核苷酸多态性（SNP）。我们研究了这些遗传变异是否与基因表达的改变有关。

方法/主要发现：我们使用源自永生外周淋巴细胞的 mRNA 表达和遗传变异数据库来研究与 MS 相关的多态性与基因表达的相关性。发现了几个与表达变化相关的 SNP：特别是两个与 HLA-DQA1、HLA-DQA2、HLA-DQB1、HLA-DRB1、HLA-DRB4 和 HLA-DRB5 相关，一个与 ZFP57 相关，一个与 CD58 相关，两个与 IL7 和 FAM164A 相关，一个与 FAM119B、TSFM 和 KUB3 相关。我们发现与最近的 MS 患者全基因组表达研究的交叉很少。

讨论

我们使用无偏倚的表达数据库表明，MS 中的许多易感性位点与基因表达的变化有关。其中一些发现提示了 MS 相关遗传变异作用下的新的候选基因。