Full metadata record
DC Field | Value | Language |
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dc.contributor.author | 배상철 | - |
dc.date.accessioned | 2018-03-23T06:14:56Z | - |
dc.date.available | 2018-03-23T06:14:56Z | - |
dc.date.issued | 2012-12 | - |
dc.identifier.citation | Molecular Biology Reports, 2012, 39(12), P.10627-10635 | en_US |
dc.identifier.issn | 0301-4851 | - |
dc.identifier.uri | https://link.springer.com/article/10.1007%2Fs11033-012-1952-x | - |
dc.identifier.uri | http://hdl.handle.net/20.500.11754/51372 | - |
dc.description.abstract | The aim of this study was to explore candidate single nucleotide polymorphisms (SNPs) and candidate mechanisms of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Two SLE genome-wide association studies (GWASs) datasets were included in this study. Meta-analysis was conducted using 737,984 SNPs in 1,527 SLE cases and 3,421 controls of European ancestry, and 4,429 SNPs that met a threshold of p < 0.01 in a Korean RA GWAS dataset was used. ICSNPathway (identify candidate causal SNPs and pathways) analysis was applied to the meta-analysis results of the SLE GWAS datasets, and a RA GWAS dataset. The most significant result of SLE GWAS meta-analysis concerned rs2051549 in the human leukocyte antigen (HLA) region (p = 3.36E-22). In the non-HLA region, meta-analysis identified 6 SNPs associated with SLE with genome-wide significance (STAT4, TNPO3, BLK, FAM167A, and IRF5). ICSNPathway identified five candidate causal SNPs and 13 candidate causal pathways. This pathway-based analysis provides three hypotheses of the biological mechanism involved. First, rs8084 and rs7192 -> HLA-DRA -> bystander B cell activation. Second, rs1800629 -> TNF -> cytokine network. Third, rs1150752 and rs185819 -> TNXB -> collagen metabolic process. ICSNPathway analysis identified three candidate causal non-HLA SNPs and four candidate causal pathways involving the PADI4, MTR, PADI2, and TPH2 genes of RA. We identified five candidate SNPs and thirteen pathways, involving bystander B cell activation, cytokine network, and collagen metabolic processing, which may contribute to SLE susceptibility, and we revealed candidate causal non-HLA SNPs, genes, and pathways of RA. | en_US |
dc.description.sponsorship | This study is supported by a Grant from the Korea Healthcare Technology R&D Project, Ministry of Health and Welfare, Republic of Korea (A102065). | en_US |
dc.language.iso | en | en_US |
dc.publisher | Springer Science + Business Media | en_US |
dc.subject | Genome-wide association studies | en_US |
dc.subject | Meta-analysis | en_US |
dc.subject | Pathway-based analysis | en_US |
dc.subject | Systemic lupus erythematosus | en_US |
dc.subject | Rheumatoid arthritis | en_US |
dc.title | Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis | en_US |
dc.type | Article | en_US |
dc.relation.no | 12 | - |
dc.relation.volume | 39 | - |
dc.identifier.doi | 10.1007/s11033-012-1952-x | - |
dc.relation.page | 10627-10635 | - |
dc.relation.journal | MOLECULAR BIOLOGY REPORTS | - |
dc.contributor.googleauthor | Lee, YoungHo | - |
dc.contributor.googleauthor | Bae, SangCheol | - |
dc.contributor.googleauthor | Choi, SungJae | - |
dc.contributor.googleauthor | Ji, JongDae | - |
dc.contributor.googleauthor | Song, GwanGyu | - |
dc.relation.code | 2012206806 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF MEDICINE[S] | - |
dc.sector.department | DEPARTMENT OF MEDICINE | - |
dc.identifier.pid | scbae | - |
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