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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 311 - 318 (8page)
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초록· 키워드
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Background and Purpose Multiple sclerosis (MS) is a demyelinating and infammatory disease of the central nervous system. Te aim of this study was to identify more genes associated with MS.
Methods Based on the publicly available data of the single-nucleotide polymorphism-based genome-wide association study (GWAS) from the database of Genotypes and Phenotypes, we conducted a powerful gene-based GWAS in an initial sample with 931 family trios, and a replication study sample with 978 cases and 883 controls. For interesting genes, gene expression in MS-related cells between MS cases and controls was examined by using publicly available datasets.
Results A total of 58 genes was identifed, including 20 “novel” genes signifcantly associated with MS (p<1.40×10-4). In the replication study, 44 of the 58 identifed genes had been genotyped and 35 replicated the association. In the gene-expression study, 21 of the 58 identifed genes exhibited diferential expressions in MS-related cells. Tus, 15 novel genes were supported by replicated association and/or diferential expression. In particular, four of the novel genes, those encoding myelin oligodendrocyte glycoprotein (MOG), coiled-coil alpha-helical rod protein 1 (CCHCR1), human leukocyte antigen complex group 22 (HCG22), and major histocompatibility complex, class II, DM alpha (HLA-DMA), were supported by the evidence of both.
Conclusion zTe results of this study emphasize the high power of gene-based GWAS in detecting the susceptibility genes of MS. Te novel genes identifed herein may provide new insights into the molecular genetic mechanisms underlying MS.
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참고문헌 (25)
참고문헌 신청
/ 2009 / Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene). Genome-wide association study identifies new multiple sclerosis susceptibility loci on ch
Annibali V / 2011 / CD161(high)CD8+T cells bear pathogenetic potential in multiple sclerosis / Brain 134 (2) : 542 ~ 554
Baranzini SE / 2009 / Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis / Hum Mol Genet 18 : 767 ~ 778
Buil A / 2009 / A new gene-based association test for genome-wide association studies / BMC Proc 3 (7) : S130 ~
Compston A / 2008 / Multiple sclerosis / Lancet 372 : 1502 ~ 1517
Annibali V / 2011 / CD161(high)CD8+T cells bear pathogenetic potential in multiple sclerosis / Brain 134 (2) : 542 ~ 554
Baranzini SE / 2009 / Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis / Hum Mol Genet 18 : 767 ~ 778
Buil A / 2009 / A new gene-based association test for genome-wide association studies / BMC Proc 3 (7) : S130 ~
Compston A / 2008 / Multiple sclerosis / Lancet 372 : 1502 ~ 1517
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