Association of an IGHV3-66 gene variant with Kawasaki disease
DC Field | Value | Language |
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dc.contributor.author | Johnson, Todd A. | - |
dc.contributor.author | Mashimo, Yoichi | - |
dc.contributor.author | Wu, Jer-Yuarn | - |
dc.contributor.author | Yoon, Dankyu | - |
dc.contributor.author | Hata, Akira | - |
dc.contributor.author | Kubo, Michiaki | - |
dc.contributor.author | Takahashi, Atsushi | - |
dc.contributor.author | Tsunoda, Tatsuhiko | - |
dc.contributor.author | Ozaki, Kouichi | - |
dc.contributor.author | Tanaka, Toshihiro | - |
dc.contributor.author | Ito, Kaoru | - |
dc.contributor.author | Suzuki, Hiroyuki | - |
dc.contributor.author | Hamada, Hiromichi | - |
dc.contributor.author | Kobayashi, Tohru | - |
dc.contributor.author | Hara, Toshiro | - |
dc.contributor.author | Chen, Chien-Hsiun | - |
dc.contributor.author | Lee, Yi-Ching | - |
dc.contributor.author | Liu, Yi-Min | - |
dc.contributor.author | Chang, Li-Ching | - |
dc.contributor.author | Chang, Chun-Ping | - |
dc.contributor.author | Hong, Young-Mi | - |
dc.contributor.author | Jang, Gi-Young | - |
dc.contributor.author | Yun, Sin-Weon | - |
dc.contributor.author | Yu, Jeong-Jin | - |
dc.contributor.author | Lee, Kyung-Yil | - |
dc.contributor.author | Kim, Jae-Jung | - |
dc.contributor.author | Park, Taesung | - |
dc.contributor.author | Lee, Jong-Keuk | - |
dc.contributor.author | Chen, Yuan-Tsong | - |
dc.contributor.author | Onouchi, Yoshihiro | - |
dc.date.accessioned | 2022-03-10T13:40:41Z | - |
dc.date.available | 2022-03-10T13:40:41Z | - |
dc.date.created | 2022-02-09 | - |
dc.date.issued | 2021 | - |
dc.identifier.issn | 1434-5161 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/138471 | - |
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 x 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 x 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. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | SPRINGERNATURE | - |
dc.subject | GENOME-WIDE ASSOCIATION | - |
dc.subject | SUSCEPTIBILITY LOCI | - |
dc.subject | GENOTYPE IMPUTATION | - |
dc.subject | GAMMA-GLOBULIN | - |
dc.subject | IDENTIFIES 3 | - |
dc.subject | ACUTE-PHASE | - |
dc.subject | ANTIBODIES | - |
dc.subject | ACTIVATION | - |
dc.subject | CHILDREN | - |
dc.subject | BINDING | - |
dc.title | Association of an IGHV3-66 gene variant with Kawasaki disease | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Jang, Gi-Young | - |
dc.identifier.doi | 10.1038/s10038-020-00864-z | - |
dc.identifier.scopusid | 2-s2.0-85093980300 | - |
dc.identifier.wosid | 000584360500001 | - |
dc.identifier.bibliographicCitation | JOURNAL OF HUMAN GENETICS, v.66, no.5, pp.475 - 489 | - |
dc.relation.isPartOf | JOURNAL OF HUMAN GENETICS | - |
dc.citation.title | JOURNAL OF HUMAN GENETICS | - |
dc.citation.volume | 66 | - |
dc.citation.number | 5 | - |
dc.citation.startPage | 475 | - |
dc.citation.endPage | 489 | - |
dc.type.rims | ART | - |
dc.type.docType | Article; Early Access | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.subject.keywordPlus | GENOME-WIDE ASSOCIATION | - |
dc.subject.keywordPlus | SUSCEPTIBILITY LOCI | - |
dc.subject.keywordPlus | GENOTYPE IMPUTATION | - |
dc.subject.keywordPlus | GAMMA-GLOBULIN | - |
dc.subject.keywordPlus | IDENTIFIES 3 | - |
dc.subject.keywordPlus | ACUTE-PHASE | - |
dc.subject.keywordPlus | ANTIBODIES | - |
dc.subject.keywordPlus | ACTIVATION | - |
dc.subject.keywordPlus | CHILDREN | - |
dc.subject.keywordPlus | BINDING | - |
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