Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 홍영미 | * |
dc.date.accessioned | 2021-08-12T16:32:50Z | - |
dc.date.available | 2021-08-12T16:32:50Z | - |
dc.date.issued | 2021 | * |
dc.identifier.issn | 1434-5161 | * |
dc.identifier.other | OAK-29739 | * |
dc.identifier.uri | https://dspace.ewha.ac.kr/handle/2015.oak/258904 | - |
dc.description.abstract | In a meta-analysis of three GWAS for susceptibility to Kawasaki disease (KD) conducted in Japan, Korea, and Taiwan and follow-up studies with a total of 11,265 subjects (3428 cases and 7837 controls), a significantly associated SNV in the immunoglobulin heavy variable gene (IGHV) cluster in 14q33.32 was identified (rs4774175; OR = 1.20, P = 6.0 × 10−9). Investigation of nonsynonymous SNVs of the IGHV cluster in 9335 Japanese subjects identified the C allele of rs6423677, located in IGHV3-66, as the most significant reproducible association (OR = 1.25, P = 6.8 × 10−10 in 3603 cases and 5731 controls). We observed highly skewed allelic usage of IGHV3-66, wherein the rs6423677 A allele was nearly abolished in the transcripts in peripheral blood mononuclear cells of both KD patients and healthy adults. Association of the high-expression allele with KD strongly indicates some active roles of B-cells or endogenous immunoglobulins in the disease pathogenesis. Considering that significant association of SNVs in the IGHV region with disease susceptibility was previously known only for rheumatic heart disease (RHD), a complication of acute rheumatic fever (ARF), these observations suggest that common B-cell related mechanisms may mediate the symptomology of KD and ARF as well as RHD. © 2020, The Author(s), under exclusive licence to The Japan Society of Human Genetics. | * |
dc.language | English | * |
dc.publisher | Springer Nature | * |
dc.title | Association of an IGHV3-66 gene variant with Kawasaki disease | * |
dc.type | Article | * |
dc.relation.issue | 5 | * |
dc.relation.volume | 66 | * |
dc.relation.index | SCIE | * |
dc.relation.index | SCOPUS | * |
dc.relation.startpage | 475 | * |
dc.relation.lastpage | 489 | * |
dc.relation.journaltitle | Journal of Human Genetics | * |
dc.identifier.doi | 10.1038/s10038-020-00864-z | * |
dc.identifier.scopusid | 2-s2.0-85093980300 | * |
dc.author.google | Johnson T.A. | * |
dc.author.google | Mashimo Y. | * |
dc.author.google | Wu J.-Y. | * |
dc.author.google | Yoon D. | * |
dc.author.google | Hata A. | * |
dc.author.google | Kubo M. | * |
dc.author.google | Takahashi A. | * |
dc.author.google | Tsunoda T. | * |
dc.author.google | Ozaki K. | * |
dc.author.google | Tanaka T. | * |
dc.author.google | Ito K. | * |
dc.author.google | Suzuki H. | * |
dc.author.google | Hamada H. | * |
dc.author.google | Kobayashi T. | * |
dc.author.google | Hara T. | * |
dc.author.google | Chen C.-H. | * |
dc.author.google | Lee Y.-C. | * |
dc.author.google | Liu Y.-M. | * |
dc.author.google | Chang L.-C. | * |
dc.author.google | Chang C.-P. | * |
dc.author.google | Hong Y.-M. | * |
dc.author.google | Jang G.-Y. | * |
dc.author.google | Yun S.-W. | * |
dc.author.google | Yu J.-J. | * |
dc.author.google | Lee K.-Y. | * |
dc.author.google | Kim J.-J. | * |
dc.author.google | Park T. | * |
dc.author.google | Lee J.-K. | * |
dc.author.google | Chen Y.-T. | * |
dc.author.google | Onouchi Y. | * |
dc.author.google | Korean Kawasaki Disease Genetics Consortium | * |
dc.author.google | Taiwan Kawasaki Disease Genetics Consortium | * |
dc.author.google | Taiwan Pediatric ID Alliance | * |
dc.author.google | Japan Kawasaki Disease Genome Consortium | * |
dc.contributor.scopusid | 홍영미(35210025100;55841904000;56063366100) | * |
dc.date.modifydate | 20240415130647 | * |