Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis
DC Field | Value | Language |
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dc.contributor.author | Lee, Young Ho | - |
dc.contributor.author | Bae, Sang-Cheol | - |
dc.contributor.author | Choi, Sung Jae | - |
dc.contributor.author | Ji, Jong Dae | - |
dc.contributor.author | Song, Gwan Gyu | - |
dc.date.accessioned | 2021-09-06T12:31:37Z | - |
dc.date.available | 2021-09-06T12:31:37Z | - |
dc.date.created | 2021-06-14 | - |
dc.date.issued | 2012-12 | - |
dc.identifier.issn | 0301-4851 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/106788 | - |
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. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | SPRINGER | - |
dc.subject | SLE SUSCEPTIBILITY | - |
dc.subject | METAANALYSIS | - |
dc.subject | DISEASE | - |
dc.subject | POLYMORPHISMS | - |
dc.subject | MECHANISMS | - |
dc.subject | NEPHRITIS | - |
dc.subject | THERAPY | - |
dc.subject | ITGAM | - |
dc.subject | SCAN | - |
dc.subject | SNPS | - |
dc.title | Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Lee, Young Ho | - |
dc.contributor.affiliatedAuthor | Choi, Sung Jae | - |
dc.contributor.affiliatedAuthor | Ji, Jong Dae | - |
dc.contributor.affiliatedAuthor | Song, Gwan Gyu | - |
dc.identifier.doi | 10.1007/s11033-012-1952-x | - |
dc.identifier.scopusid | 2-s2.0-85027954669 | - |
dc.identifier.wosid | 000310586700074 | - |
dc.identifier.bibliographicCitation | MOLECULAR BIOLOGY REPORTS, v.39, no.12, pp.10627 - 10635 | - |
dc.relation.isPartOf | MOLECULAR BIOLOGY REPORTS | - |
dc.citation.title | MOLECULAR BIOLOGY REPORTS | - |
dc.citation.volume | 39 | - |
dc.citation.number | 12 | - |
dc.citation.startPage | 10627 | - |
dc.citation.endPage | 10635 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Biochemistry & Molecular Biology | - |
dc.relation.journalWebOfScienceCategory | Biochemistry & Molecular Biology | - |
dc.subject.keywordPlus | SLE SUSCEPTIBILITY | - |
dc.subject.keywordPlus | METAANALYSIS | - |
dc.subject.keywordPlus | DISEASE | - |
dc.subject.keywordPlus | POLYMORPHISMS | - |
dc.subject.keywordPlus | MECHANISMS | - |
dc.subject.keywordPlus | NEPHRITIS | - |
dc.subject.keywordPlus | THERAPY | - |
dc.subject.keywordPlus | ITGAM | - |
dc.subject.keywordPlus | SCAN | - |
dc.subject.keywordPlus | SNPS | - |
dc.subject.keywordAuthor | Genome-wide association studies | - |
dc.subject.keywordAuthor | Meta-analysis | - |
dc.subject.keywordAuthor | Pathway-based analysis | - |
dc.subject.keywordAuthor | Systemic lupus erythematosus | - |
dc.subject.keywordAuthor | Rheumatoid arthritis | - |
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