Kawasaki disease pathophysiology: Difference between revisions
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! style="background:#4479BA; color: #FFFFFF;" |Reference and Year | ! style="background:#4479BA; color: #FFFFFF;" |Reference and Year | ||
|- | |- | ||
| style="background:#DCDCDC;" |''FCGR2A'' | | style="background:#DCDCDC;" |''[[FCGR2A]]'' | ||
| style="background:#DCDCDC;" |1q23 | | style="background:#DCDCDC;" |1q23 | ||
| style="background:#DCDCDC;" |GWAS | | style="background:#DCDCDC;" |[[Genome-wide association study|GWAS]] | ||
| style="background:#DCDCDC;" |European descent, Taiwanese, Koreans, Han Chinese | | style="background:#DCDCDC;" |European descent, Taiwanese, Koreans, Han Chinese | ||
| style="background:#DCDCDC;" |Low-affinity receptor for Fc fragment of IgG; risk allele has lower binding affinity | | style="background:#DCDCDC;" |Low-affinity receptor for [[Fc receptor|Fc]] fragment of [[Immunoglobulin G|IgG]]; risk [[allele]] has lower binding affinity | ||
| style="background:#DCDCDC;" |Khor et al<ref name="KhorDavila2011">{{cite journal|last1=Khor|first1=C. C.|last2=Davila|first2=S.|last3=Shimizu|first3=C.|last4=Sheng|first4=S.|last5=Matsubara|first5=T.|last6=Suzuki|first6=Y.|last7=Newburger|first7=J. W.|last8=Baker|first8=A.|last9=Burgner|first9=D.|last10=Breunis|first10=W.|last11=Kuijpers|first11=T.|last12=Wright|first12=V. J.|last13=Levin|first13=M.|last14=Hibberd|first14=M. L.|last15=Burns|first15=J. C.|title=Genome-wide linkage and association mapping identify susceptibility alleles in ABCC4 for Kawasaki disease|journal=Journal of Medical Genetics|volume=48|issue=7|year=2011|pages=467–472|issn=0022-2593|doi=10.1136/jmg.2010.086611}}</ref>2011 | | style="background:#DCDCDC;" |Khor et al<ref name="KhorDavila2011">{{cite journal|last1=Khor|first1=C. C.|last2=Davila|first2=S.|last3=Shimizu|first3=C.|last4=Sheng|first4=S.|last5=Matsubara|first5=T.|last6=Suzuki|first6=Y.|last7=Newburger|first7=J. W.|last8=Baker|first8=A.|last9=Burgner|first9=D.|last10=Breunis|first10=W.|last11=Kuijpers|first11=T.|last12=Wright|first12=V. J.|last13=Levin|first13=M.|last14=Hibberd|first14=M. L.|last15=Burns|first15=J. C.|title=Genome-wide linkage and association mapping identify susceptibility alleles in ABCC4 for Kawasaki disease|journal=Journal of Medical Genetics|volume=48|issue=7|year=2011|pages=467–472|issn=0022-2593|doi=10.1136/jmg.2010.086611}}</ref>2011 | ||
|- | |- | ||
| style="background:#DCDCDC;" |''CASP3'' | | style="background:#DCDCDC;" |''[[CASP3]]'' | ||
| style="background:#DCDCDC;" |4q34-35 | | style="background:#DCDCDC;" |4q34-35 | ||
| style="background:#DCDCDC;" |Linkage analysis | | style="background:#DCDCDC;" |Linkage analysis | ||
Candidate gene study | Candidate gene study | ||
| style="background:#DCDCDC;" |Japanese, Taiwanese, Koreans, Chinese, Euro-Americans | | style="background:#DCDCDC;" |Japanese, Taiwanese, Koreans, Chinese, Euro-Americans | ||
| style="background:#DCDCDC;" |Mediates apoptosis in immune cells and cardiomyocytes | | style="background:#DCDCDC;" |Mediates [[apoptosis]] in immune cells and [[Cardiomyocyte|cardiomyocytes]] | ||
Risk allele decreases gene transcription | Risk [[allele]] decreases [[gene transcription]] | ||
| style="background:#DCDCDC;" |Onouchi et al<ref name="OnouchiOzaki2010">{{cite journal|last1=Onouchi|first1=Yoshihiro|last2=Ozaki|first2=Kouichi|last3=Buns|first3=Jane C.|last4=Shimizu|first4=Chisato|last5=Hamada|first5=Hiromichi|last6=Honda|first6=Takafumi|last7=Terai|first7=Masaru|last8=Honda|first8=Akihito|last9=Takeuchi|first9=Takashi|last10=Shibuta|first10=Shoichi|last11=Suenaga|first11=Tomohiro|last12=Suzuki|first12=Hiroyuki|last13=Higashi|first13=Kouji|last14=Yasukawa|first14=Kumi|last15=Suzuki|first15=Yoichi|last16=Sasago|first16=Kumiko|last17=Kemmotsu|first17=Yasushi|last18=Takatsuki|first18=Shinichi|last19=Saji|first19=Tsutomu|last20=Yoshikawa|first20=Tetsushi|last21=Nagai|first21=Toshiro|last22=Hamamoto|first22=Kunihiro|last23=Kishi|first23=Fumio|last24=Ouchi|first24=Kazunobu|last25=Sato|first25=Yoshitake|last26=Newburger|first26=Jane W.|last27=Baker|first27=Annette L.|last28=Shulman|first28=Stanford T.|last29=Rowley|first29=Anne H.|last30=Yashiro|first30=Mayumi|last31=Nakamura|first31=Yoshikazu|last32=Wakui|first32=Keiko|last33=Fukushima|first33=Yoshimitsu|last34=Fujino|first34=Akihiro|last35=Tsunoda|first35=Tatsuhiko|last36=Kawasaki|first36=Tomisaku|last37=Hata|first37=Akira|last38=Nakamura|first38=Yusuke|last39=Tanaka|first39=Toshihiro|title=Common variants in CASP3 confer susceptibility to Kawasaki disease|journal=Human Molecular Genetics|volume=19|issue=14|year=2010|pages=2898–2906|issn=1460-2083|doi=10.1093/hmg/ddq176}}</ref> 2010 | | style="background:#DCDCDC;" |Onouchi et al<ref name="OnouchiOzaki2010">{{cite journal|last1=Onouchi|first1=Yoshihiro|last2=Ozaki|first2=Kouichi|last3=Buns|first3=Jane C.|last4=Shimizu|first4=Chisato|last5=Hamada|first5=Hiromichi|last6=Honda|first6=Takafumi|last7=Terai|first7=Masaru|last8=Honda|first8=Akihito|last9=Takeuchi|first9=Takashi|last10=Shibuta|first10=Shoichi|last11=Suenaga|first11=Tomohiro|last12=Suzuki|first12=Hiroyuki|last13=Higashi|first13=Kouji|last14=Yasukawa|first14=Kumi|last15=Suzuki|first15=Yoichi|last16=Sasago|first16=Kumiko|last17=Kemmotsu|first17=Yasushi|last18=Takatsuki|first18=Shinichi|last19=Saji|first19=Tsutomu|last20=Yoshikawa|first20=Tetsushi|last21=Nagai|first21=Toshiro|last22=Hamamoto|first22=Kunihiro|last23=Kishi|first23=Fumio|last24=Ouchi|first24=Kazunobu|last25=Sato|first25=Yoshitake|last26=Newburger|first26=Jane W.|last27=Baker|first27=Annette L.|last28=Shulman|first28=Stanford T.|last29=Rowley|first29=Anne H.|last30=Yashiro|first30=Mayumi|last31=Nakamura|first31=Yoshikazu|last32=Wakui|first32=Keiko|last33=Fukushima|first33=Yoshimitsu|last34=Fujino|first34=Akihiro|last35=Tsunoda|first35=Tatsuhiko|last36=Kawasaki|first36=Tomisaku|last37=Hata|first37=Akira|last38=Nakamura|first38=Yusuke|last39=Tanaka|first39=Toshihiro|title=Common variants in CASP3 confer susceptibility to Kawasaki disease|journal=Human Molecular Genetics|volume=19|issue=14|year=2010|pages=2898–2906|issn=1460-2083|doi=10.1093/hmg/ddq176}}</ref> 2010 | ||
|- | |- | ||
| style="background:#DCDCDC;" |''HLA''class II | | style="background:#DCDCDC;" |[[HLA-A2|''HLA''class II]] | ||
| style="background:#DCDCDC;" |6p21.3 | | style="background:#DCDCDC;" |6p21.3 | ||
| style="background:#DCDCDC;" |GWAS | | style="background:#DCDCDC;" |[[Genome-wide association study|GWAS]] | ||
| style="background:#DCDCDC;" |Japanese, Taiwanese, Koreans | | style="background:#DCDCDC;" |Japanese, Taiwanese, Koreans | ||
| style="background:#DCDCDC;" |Activation marker for immune cells; antigen presentation | | style="background:#DCDCDC;" |Activation marker for [[immune cells]]; [[antigen presentation]] | ||
| style="background:#DCDCDC;" |Onouchi et al<ref name="OnouchiOzaki2012">{{cite journal|last1=Onouchi|first1=Yoshihiro|last2=Ozaki|first2=Kouichi|last3=Burns|first3=Jane C|last4=Shimizu|first4=Chisato|last5=Terai|first5=Masaru|last6=Hamada|first6=Hiromichi|last7=Honda|first7=Takafumi|last8=Suzuki|first8=Hiroyuki|last9=Suenaga|first9=Tomohiro|last10=Takeuchi|first10=Takashi|last11=Yoshikawa|first11=Norishige|last12=Suzuki|first12=Yoichi|last13=Yasukawa|first13=Kumi|last14=Ebata|first14=Ryota|last15=Higashi|first15=Kouji|last16=Saji|first16=Tsutomu|last17=Kemmotsu|first17=Yasushi|last18=Takatsuki|first18=Shinichi|last19=Ouchi|first19=Kazunobu|last20=Kishi|first20=Fumio|last21=Yoshikawa|first21=Tetsushi|last22=Nagai|first22=Toshiro|last23=Hamamoto|first23=Kunihiro|last24=Sato|first24=Yoshitake|last25=Honda|first25=Akihito|last26=Kobayashi|first26=Hironobu|last27=Sato|first27=Junichi|last28=Shibuta|first28=Shoichi|last29=Miyawaki|first29=Masakazu|last30=Oishi|first30=Ko|last31=Yamaga|first31=Hironobu|last32=Aoyagi|first32=Noriyuki|last33=Iwahashi|first33=Seiji|last34=Miyashita|first34=Ritsuko|last35=Murata|first35=Yuji|last36=Sasago|first36=Kumiko|last37=Takahashi|first37=Atsushi|last38=Kamatani|first38=Naoyuki|last39=Kubo|first39=Michiaki|last40=Tsunoda|first40=Tatsuhiko|last41=Hata|first41=Akira|last42=Nakamura|first42=Yusuke|last43=Tanaka|first43=Toshihiro|title=A genome-wide association study identifies three new risk loci for Kawasaki disease|journal=Nature Genetics|volume=44|issue=5|year=2012|pages=517–521|issn=1061-4036|doi=10.1038/ng.2220}}</ref> 2012 | | style="background:#DCDCDC;" |Onouchi et al<ref name="OnouchiOzaki2012">{{cite journal|last1=Onouchi|first1=Yoshihiro|last2=Ozaki|first2=Kouichi|last3=Burns|first3=Jane C|last4=Shimizu|first4=Chisato|last5=Terai|first5=Masaru|last6=Hamada|first6=Hiromichi|last7=Honda|first7=Takafumi|last8=Suzuki|first8=Hiroyuki|last9=Suenaga|first9=Tomohiro|last10=Takeuchi|first10=Takashi|last11=Yoshikawa|first11=Norishige|last12=Suzuki|first12=Yoichi|last13=Yasukawa|first13=Kumi|last14=Ebata|first14=Ryota|last15=Higashi|first15=Kouji|last16=Saji|first16=Tsutomu|last17=Kemmotsu|first17=Yasushi|last18=Takatsuki|first18=Shinichi|last19=Ouchi|first19=Kazunobu|last20=Kishi|first20=Fumio|last21=Yoshikawa|first21=Tetsushi|last22=Nagai|first22=Toshiro|last23=Hamamoto|first23=Kunihiro|last24=Sato|first24=Yoshitake|last25=Honda|first25=Akihito|last26=Kobayashi|first26=Hironobu|last27=Sato|first27=Junichi|last28=Shibuta|first28=Shoichi|last29=Miyawaki|first29=Masakazu|last30=Oishi|first30=Ko|last31=Yamaga|first31=Hironobu|last32=Aoyagi|first32=Noriyuki|last33=Iwahashi|first33=Seiji|last34=Miyashita|first34=Ritsuko|last35=Murata|first35=Yuji|last36=Sasago|first36=Kumiko|last37=Takahashi|first37=Atsushi|last38=Kamatani|first38=Naoyuki|last39=Kubo|first39=Michiaki|last40=Tsunoda|first40=Tatsuhiko|last41=Hata|first41=Akira|last42=Nakamura|first42=Yusuke|last43=Tanaka|first43=Toshihiro|title=A genome-wide association study identifies three new risk loci for Kawasaki disease|journal=Nature Genetics|volume=44|issue=5|year=2012|pages=517–521|issn=1061-4036|doi=10.1038/ng.2220}}</ref> 2012 | ||
|- | |- | ||
| style="background:#DCDCDC;" |''BLK'' | | style="background:#DCDCDC;" |''[[BLK (gene)|BLK]]'' | ||
| style="background:#DCDCDC;" |8p23-22 | | style="background:#DCDCDC;" |8p23-22 | ||
| style="background:#DCDCDC;" |GWAS | | style="background:#DCDCDC;" |[[Genome-wide association study|GWAS]] | ||
| style="background:#DCDCDC;" |Japanese, Taiwanese, Koreans | | style="background:#DCDCDC;" |Japanese, Taiwanese, Koreans | ||
| style="background:#DCDCDC;" |B-cell receptor signal transduction | | style="background:#DCDCDC;" |[[B-cell]] receptor [[signal transduction]] | ||
| style="background:#DCDCDC;" |Onouchi et al<ref name="OnouchiOzaki20122">{{cite journal|last1=Onouchi|first1=Yoshihiro|last2=Ozaki|first2=Kouichi|last3=Burns|first3=Jane C|last4=Shimizu|first4=Chisato|last5=Terai|first5=Masaru|last6=Hamada|first6=Hiromichi|last7=Honda|first7=Takafumi|last8=Suzuki|first8=Hiroyuki|last9=Suenaga|first9=Tomohiro|last10=Takeuchi|first10=Takashi|last11=Yoshikawa|first11=Norishige|last12=Suzuki|first12=Yoichi|last13=Yasukawa|first13=Kumi|last14=Ebata|first14=Ryota|last15=Higashi|first15=Kouji|last16=Saji|first16=Tsutomu|last17=Kemmotsu|first17=Yasushi|last18=Takatsuki|first18=Shinichi|last19=Ouchi|first19=Kazunobu|last20=Kishi|first20=Fumio|last21=Yoshikawa|first21=Tetsushi|last22=Nagai|first22=Toshiro|last23=Hamamoto|first23=Kunihiro|last24=Sato|first24=Yoshitake|last25=Honda|first25=Akihito|last26=Kobayashi|first26=Hironobu|last27=Sato|first27=Junichi|last28=Shibuta|first28=Shoichi|last29=Miyawaki|first29=Masakazu|last30=Oishi|first30=Ko|last31=Yamaga|first31=Hironobu|last32=Aoyagi|first32=Noriyuki|last33=Iwahashi|first33=Seiji|last34=Miyashita|first34=Ritsuko|last35=Murata|first35=Yuji|last36=Sasago|first36=Kumiko|last37=Takahashi|first37=Atsushi|last38=Kamatani|first38=Naoyuki|last39=Kubo|first39=Michiaki|last40=Tsunoda|first40=Tatsuhiko|last41=Hata|first41=Akira|last42=Nakamura|first42=Yusuke|last43=Tanaka|first43=Toshihiro|title=A genome-wide association study identifies three new risk loci for Kawasaki disease|journal=Nature Genetics|volume=44|issue=5|year=2012|pages=517–521|issn=1061-4036|doi=10.1038/ng.2220}}</ref> 2012 | | style="background:#DCDCDC;" |Onouchi et al<ref name="OnouchiOzaki20122">{{cite journal|last1=Onouchi|first1=Yoshihiro|last2=Ozaki|first2=Kouichi|last3=Burns|first3=Jane C|last4=Shimizu|first4=Chisato|last5=Terai|first5=Masaru|last6=Hamada|first6=Hiromichi|last7=Honda|first7=Takafumi|last8=Suzuki|first8=Hiroyuki|last9=Suenaga|first9=Tomohiro|last10=Takeuchi|first10=Takashi|last11=Yoshikawa|first11=Norishige|last12=Suzuki|first12=Yoichi|last13=Yasukawa|first13=Kumi|last14=Ebata|first14=Ryota|last15=Higashi|first15=Kouji|last16=Saji|first16=Tsutomu|last17=Kemmotsu|first17=Yasushi|last18=Takatsuki|first18=Shinichi|last19=Ouchi|first19=Kazunobu|last20=Kishi|first20=Fumio|last21=Yoshikawa|first21=Tetsushi|last22=Nagai|first22=Toshiro|last23=Hamamoto|first23=Kunihiro|last24=Sato|first24=Yoshitake|last25=Honda|first25=Akihito|last26=Kobayashi|first26=Hironobu|last27=Sato|first27=Junichi|last28=Shibuta|first28=Shoichi|last29=Miyawaki|first29=Masakazu|last30=Oishi|first30=Ko|last31=Yamaga|first31=Hironobu|last32=Aoyagi|first32=Noriyuki|last33=Iwahashi|first33=Seiji|last34=Miyashita|first34=Ritsuko|last35=Murata|first35=Yuji|last36=Sasago|first36=Kumiko|last37=Takahashi|first37=Atsushi|last38=Kamatani|first38=Naoyuki|last39=Kubo|first39=Michiaki|last40=Tsunoda|first40=Tatsuhiko|last41=Hata|first41=Akira|last42=Nakamura|first42=Yusuke|last43=Tanaka|first43=Toshihiro|title=A genome-wide association study identifies three new risk loci for Kawasaki disease|journal=Nature Genetics|volume=44|issue=5|year=2012|pages=517–521|issn=1061-4036|doi=10.1038/ng.2220}}</ref> 2012 | ||
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| style="background:#DCDCDC;" |19q13.2 | | style="background:#DCDCDC;" |19q13.2 | ||
| style="background:#DCDCDC;" |Linkage analysis | | style="background:#DCDCDC;" |Linkage analysis | ||
TDT | [[Transmission disequilibrium test|TDT]] | ||
| style="background:#DCDCDC;" |Japanese, Taiwanese, Koreans, Chinese, Euro- Americans | | style="background:#DCDCDC;" |Japanese, Taiwanese, Koreans, Chinese, Euro- Americans | ||
| style="background:#DCDCDC;" |Negative regulator of calcineurin-NFAT signaling pathway; risk allele increases signaling | | style="background:#DCDCDC;" |Negative regulator of [[calcineurin]]-[[NFAT]] signaling pathway; risk [[allele]] increases signaling | ||
| style="background:#DCDCDC;" |Onouchi et al<ref name="OnouchiGunji2007">{{cite journal|last1=Onouchi|first1=Yoshihiro|last2=Gunji|first2=Tomohiko|last3=Burns|first3=Jane C|last4=Shimizu|first4=Chisato|last5=Newburger|first5=Jane W|last6=Yashiro|first6=Mayumi|last7=Nakamura|first7=Yoshikazu|last8=Yanagawa|first8=Hiroshi|last9=Wakui|first9=Keiko|last10=Fukushima|first10=Yoshimitsu|last11=Kishi|first11=Fumio|last12=Hamamoto|first12=Kunihiro|last13=Terai|first13=Masaru|last14=Sato|first14=Yoshitake|last15=Ouchi|first15=Kazunobu|last16=Saji|first16=Tsutomu|last17=Nariai|first17=Akiyoshi|last18=Kaburagi|first18=Yoichi|last19=Yoshikawa|first19=Tetsushi|last20=Suzuki|first20=Kyoko|last21=Tanaka|first21=Takeo|last22=Nagai|first22=Toshiro|last23=Cho|first23=Hideo|last24=Fujino|first24=Akihiro|last25=Sekine|first25=Akihiro|last26=Nakamichi|first26=Reiichiro|last27=Tsunoda|first27=Tatsuhiko|last28=Kawasaki|first28=Tomisaku|last29=Nakamura|first29=Yusuke|last30=Hata|first30=Akira|title=ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms|journal=Nature Genetics|volume=40|issue=1|year=2007|pages=35–42|issn=1061-4036|doi=10.1038/ng.2007.59}}</ref> 2008 | | style="background:#DCDCDC;" |Onouchi et al<ref name="OnouchiGunji2007">{{cite journal|last1=Onouchi|first1=Yoshihiro|last2=Gunji|first2=Tomohiko|last3=Burns|first3=Jane C|last4=Shimizu|first4=Chisato|last5=Newburger|first5=Jane W|last6=Yashiro|first6=Mayumi|last7=Nakamura|first7=Yoshikazu|last8=Yanagawa|first8=Hiroshi|last9=Wakui|first9=Keiko|last10=Fukushima|first10=Yoshimitsu|last11=Kishi|first11=Fumio|last12=Hamamoto|first12=Kunihiro|last13=Terai|first13=Masaru|last14=Sato|first14=Yoshitake|last15=Ouchi|first15=Kazunobu|last16=Saji|first16=Tsutomu|last17=Nariai|first17=Akiyoshi|last18=Kaburagi|first18=Yoichi|last19=Yoshikawa|first19=Tetsushi|last20=Suzuki|first20=Kyoko|last21=Tanaka|first21=Takeo|last22=Nagai|first22=Toshiro|last23=Cho|first23=Hideo|last24=Fujino|first24=Akihiro|last25=Sekine|first25=Akihiro|last26=Nakamichi|first26=Reiichiro|last27=Tsunoda|first27=Tatsuhiko|last28=Kawasaki|first28=Tomisaku|last29=Nakamura|first29=Yusuke|last30=Hata|first30=Akira|title=ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms|journal=Nature Genetics|volume=40|issue=1|year=2007|pages=35–42|issn=1061-4036|doi=10.1038/ng.2007.59}}</ref> 2008 | ||
|- | |- | ||
| style="background:#DCDCDC;" |''CD40'' | | style="background:#DCDCDC;" |''[[CD40]]'' | ||
| style="background:#DCDCDC;" |20q12-13.2 | | style="background:#DCDCDC;" |20q12-13.2 | ||
| style="background:#DCDCDC;" |GWAS | | style="background:#DCDCDC;" |[[Genome-wide association study|GWAS]] | ||
| style="background:#DCDCDC;" |Japanese, Taiwanese, Koreans | | style="background:#DCDCDC;" |Japanese, Taiwanese, Koreans | ||
| style="background:#DCDCDC;" |Risk alleles associated with increased translation | | style="background:#DCDCDC;" |Risk alleles associated with increased [[Translation (genetics)|translation]] | ||
| style="background:#DCDCDC;" |Onouchi et al<ref name="OnouchiOzaki20123">{{cite journal|last1=Onouchi|first1=Yoshihiro|last2=Ozaki|first2=Kouichi|last3=Burns|first3=Jane C|last4=Shimizu|first4=Chisato|last5=Terai|first5=Masaru|last6=Hamada|first6=Hiromichi|last7=Honda|first7=Takafumi|last8=Suzuki|first8=Hiroyuki|last9=Suenaga|first9=Tomohiro|last10=Takeuchi|first10=Takashi|last11=Yoshikawa|first11=Norishige|last12=Suzuki|first12=Yoichi|last13=Yasukawa|first13=Kumi|last14=Ebata|first14=Ryota|last15=Higashi|first15=Kouji|last16=Saji|first16=Tsutomu|last17=Kemmotsu|first17=Yasushi|last18=Takatsuki|first18=Shinichi|last19=Ouchi|first19=Kazunobu|last20=Kishi|first20=Fumio|last21=Yoshikawa|first21=Tetsushi|last22=Nagai|first22=Toshiro|last23=Hamamoto|first23=Kunihiro|last24=Sato|first24=Yoshitake|last25=Honda|first25=Akihito|last26=Kobayashi|first26=Hironobu|last27=Sato|first27=Junichi|last28=Shibuta|first28=Shoichi|last29=Miyawaki|first29=Masakazu|last30=Oishi|first30=Ko|last31=Yamaga|first31=Hironobu|last32=Aoyagi|first32=Noriyuki|last33=Iwahashi|first33=Seiji|last34=Miyashita|first34=Ritsuko|last35=Murata|first35=Yuji|last36=Sasago|first36=Kumiko|last37=Takahashi|first37=Atsushi|last38=Kamatani|first38=Naoyuki|last39=Kubo|first39=Michiaki|last40=Tsunoda|first40=Tatsuhiko|last41=Hata|first41=Akira|last42=Nakamura|first42=Yusuke|last43=Tanaka|first43=Toshihiro|title=A genome-wide association study identifies three new risk loci for Kawasaki disease|journal=Nature Genetics|volume=44|issue=5|year=2012|pages=517–521|issn=1061-4036|doi=10.1038/ng.2220}}</ref> 2012 | | style="background:#DCDCDC;" |Onouchi et al<ref name="OnouchiOzaki20123">{{cite journal|last1=Onouchi|first1=Yoshihiro|last2=Ozaki|first2=Kouichi|last3=Burns|first3=Jane C|last4=Shimizu|first4=Chisato|last5=Terai|first5=Masaru|last6=Hamada|first6=Hiromichi|last7=Honda|first7=Takafumi|last8=Suzuki|first8=Hiroyuki|last9=Suenaga|first9=Tomohiro|last10=Takeuchi|first10=Takashi|last11=Yoshikawa|first11=Norishige|last12=Suzuki|first12=Yoichi|last13=Yasukawa|first13=Kumi|last14=Ebata|first14=Ryota|last15=Higashi|first15=Kouji|last16=Saji|first16=Tsutomu|last17=Kemmotsu|first17=Yasushi|last18=Takatsuki|first18=Shinichi|last19=Ouchi|first19=Kazunobu|last20=Kishi|first20=Fumio|last21=Yoshikawa|first21=Tetsushi|last22=Nagai|first22=Toshiro|last23=Hamamoto|first23=Kunihiro|last24=Sato|first24=Yoshitake|last25=Honda|first25=Akihito|last26=Kobayashi|first26=Hironobu|last27=Sato|first27=Junichi|last28=Shibuta|first28=Shoichi|last29=Miyawaki|first29=Masakazu|last30=Oishi|first30=Ko|last31=Yamaga|first31=Hironobu|last32=Aoyagi|first32=Noriyuki|last33=Iwahashi|first33=Seiji|last34=Miyashita|first34=Ritsuko|last35=Murata|first35=Yuji|last36=Sasago|first36=Kumiko|last37=Takahashi|first37=Atsushi|last38=Kamatani|first38=Naoyuki|last39=Kubo|first39=Michiaki|last40=Tsunoda|first40=Tatsuhiko|last41=Hata|first41=Akira|last42=Nakamura|first42=Yusuke|last43=Tanaka|first43=Toshihiro|title=A genome-wide association study identifies three new risk loci for Kawasaki disease|journal=Nature Genetics|volume=44|issue=5|year=2012|pages=517–521|issn=1061-4036|doi=10.1038/ng.2220}}</ref> 2012 | ||
|- | |- | ||
| colspan="6" |BLK indicates B-cell lymphoid kinase; CASP3, caspase 3; FCGR, Fcγ receptor; GWAS, genome-wide association study; HLA, human leukocyte antigen; IgG, immunoglobulin G; ITPKC, inositol 1,4,5-trisphosphate kinase-C; KD, Kawasaki disease; NFAT, nuclear factor of activated T cells; and TDT, transmission disequilibrium test. | | colspan="6" |[[BLK (gene)|BLK]] indicates [[B cell|B-cell]] lymphoid kinase; [[CASP3]], [[caspase 3]]; [[FCGR1A|FCGR]], Fcγ receptor; [[Genome-wide association study|GWAS]], [[genome-wide association study]]; [[Human leukocyte antigen|HLA, human leukocyte antigen]]; [[Immunoglobulin G|IgG, immunoglobulin G]]; [[ITPKC]], [[Inositol 1,4,5-triphosphate|inositol 1,4,5-trisphosphate kinase-C]]; [[Kawasaki disease|KD, Kawasaki disease]]; [[NFAT|NFAT, nuclear factor of activated T cells]]; and [[Transmission disequilibrium test|TDT, transmission disequilibrium test.]] | ||
|} | |} | ||
Revision as of 19:23, 10 April 2018
Kawasaki disease Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
American Roentgen Ray Society Images of Kawasaki disease pathophysiology |
Risk calculators and risk factors for Kawasaki disease pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
The exact pathogenesis of [disease name] is not fully understood.
OR
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Pathophysiology
Pathogenesis
- The exact pathogenesis of [disease name] is not fully understood.
OR
- It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
- [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
- Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
- [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
- The progression to [disease name] usually involves the [molecular pathway].
- The pathophysiology of [disease/malignancy] depends on the histological subtype.
Genetics
Genes Implicated in Susceptibility to KD With Replication in Independent Cohorts
Adapted from the AHA Scientific Statement on the diagnosis, treatment, and long term management of Kawasaki disease[1] | |||||
Gene | Chromosome Location | Genetic Methods | Validation Populations | Potential Significance | Reference and Year |
---|---|---|---|---|---|
FCGR2A | 1q23 | GWAS | European descent, Taiwanese, Koreans, Han Chinese | Low-affinity receptor for Fc fragment of IgG; risk allele has lower binding affinity | Khor et al[2]2011 |
CASP3 | 4q34-35 | Linkage analysis
Candidate gene study |
Japanese, Taiwanese, Koreans, Chinese, Euro-Americans | Mediates apoptosis in immune cells and cardiomyocytes
Risk allele decreases gene transcription |
Onouchi et al[3] 2010 |
HLAclass II | 6p21.3 | GWAS | Japanese, Taiwanese, Koreans | Activation marker for immune cells; antigen presentation | Onouchi et al[4] 2012 |
BLK | 8p23-22 | GWAS | Japanese, Taiwanese, Koreans | B-cell receptor signal transduction | Onouchi et al[5] 2012 |
IPTKC | 19q13.2 | Linkage analysis | Japanese, Taiwanese, Koreans, Chinese, Euro- Americans | Negative regulator of calcineurin-NFAT signaling pathway; risk allele increases signaling | Onouchi et al[6] 2008 |
CD40 | 20q12-13.2 | GWAS | Japanese, Taiwanese, Koreans | Risk alleles associated with increased translation | Onouchi et al[7] 2012 |
BLK indicates B-cell lymphoid kinase; CASP3, caspase 3; FCGR, Fcγ receptor; GWAS, genome-wide association study; HLA, human leukocyte antigen; IgG, immunoglobulin G; ITPKC, inositol 1,4,5-trisphosphate kinase-C; KD, Kawasaki disease; NFAT, nuclear factor of activated T cells; and TDT, transmission disequilibrium test. |
Associated Conditions
Gross Pathology
- On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
- On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ McCrindle, Brian W.; Rowley, Anne H.; Newburger, Jane W.; Burns, Jane C.; Bolger, Anne F.; Gewitz, Michael; Baker, Annette L.; Jackson, Mary Anne; Takahashi, Masato; Shah, Pinak B.; Kobayashi, Tohru; Wu, Mei-Hwan; Saji, Tsutomu T.; Pahl, Elfriede (2017). "Diagnosis, Treatment, and Long-Term Management of Kawasaki Disease: A Scientific Statement for Health Professionals From the American Heart Association". Circulation. 135 (17): e927–e999. doi:10.1161/CIR.0000000000000484. ISSN 0009-7322.
- ↑ Khor, C. C.; Davila, S.; Shimizu, C.; Sheng, S.; Matsubara, T.; Suzuki, Y.; Newburger, J. W.; Baker, A.; Burgner, D.; Breunis, W.; Kuijpers, T.; Wright, V. J.; Levin, M.; Hibberd, M. L.; Burns, J. C. (2011). "Genome-wide linkage and association mapping identify susceptibility alleles in ABCC4 for Kawasaki disease". Journal of Medical Genetics. 48 (7): 467–472. doi:10.1136/jmg.2010.086611. ISSN 0022-2593.
- ↑ Onouchi, Yoshihiro; Ozaki, Kouichi; Buns, Jane C.; Shimizu, Chisato; Hamada, Hiromichi; Honda, Takafumi; Terai, Masaru; Honda, Akihito; Takeuchi, Takashi; Shibuta, Shoichi; Suenaga, Tomohiro; Suzuki, Hiroyuki; Higashi, Kouji; Yasukawa, Kumi; Suzuki, Yoichi; Sasago, Kumiko; Kemmotsu, Yasushi; Takatsuki, Shinichi; Saji, Tsutomu; Yoshikawa, Tetsushi; Nagai, Toshiro; Hamamoto, Kunihiro; Kishi, Fumio; Ouchi, Kazunobu; Sato, Yoshitake; Newburger, Jane W.; Baker, Annette L.; Shulman, Stanford T.; Rowley, Anne H.; Yashiro, Mayumi; Nakamura, Yoshikazu; Wakui, Keiko; Fukushima, Yoshimitsu; Fujino, Akihiro; Tsunoda, Tatsuhiko; Kawasaki, Tomisaku; Hata, Akira; Nakamura, Yusuke; Tanaka, Toshihiro (2010). "Common variants in CASP3 confer susceptibility to Kawasaki disease". Human Molecular Genetics. 19 (14): 2898–2906. doi:10.1093/hmg/ddq176. ISSN 1460-2083.
- ↑ Onouchi, Yoshihiro; Ozaki, Kouichi; Burns, Jane C; Shimizu, Chisato; Terai, Masaru; Hamada, Hiromichi; Honda, Takafumi; Suzuki, Hiroyuki; Suenaga, Tomohiro; Takeuchi, Takashi; Yoshikawa, Norishige; Suzuki, Yoichi; Yasukawa, Kumi; Ebata, Ryota; Higashi, Kouji; Saji, Tsutomu; Kemmotsu, Yasushi; Takatsuki, Shinichi; Ouchi, Kazunobu; Kishi, Fumio; Yoshikawa, Tetsushi; Nagai, Toshiro; Hamamoto, Kunihiro; Sato, Yoshitake; Honda, Akihito; Kobayashi, Hironobu; Sato, Junichi; Shibuta, Shoichi; Miyawaki, Masakazu; Oishi, Ko; Yamaga, Hironobu; Aoyagi, Noriyuki; Iwahashi, Seiji; Miyashita, Ritsuko; Murata, Yuji; Sasago, Kumiko; Takahashi, Atsushi; Kamatani, Naoyuki; Kubo, Michiaki; Tsunoda, Tatsuhiko; Hata, Akira; Nakamura, Yusuke; Tanaka, Toshihiro (2012). "A genome-wide association study identifies three new risk loci for Kawasaki disease". Nature Genetics. 44 (5): 517–521. doi:10.1038/ng.2220. ISSN 1061-4036.
- ↑ Onouchi, Yoshihiro; Ozaki, Kouichi; Burns, Jane C; Shimizu, Chisato; Terai, Masaru; Hamada, Hiromichi; Honda, Takafumi; Suzuki, Hiroyuki; Suenaga, Tomohiro; Takeuchi, Takashi; Yoshikawa, Norishige; Suzuki, Yoichi; Yasukawa, Kumi; Ebata, Ryota; Higashi, Kouji; Saji, Tsutomu; Kemmotsu, Yasushi; Takatsuki, Shinichi; Ouchi, Kazunobu; Kishi, Fumio; Yoshikawa, Tetsushi; Nagai, Toshiro; Hamamoto, Kunihiro; Sato, Yoshitake; Honda, Akihito; Kobayashi, Hironobu; Sato, Junichi; Shibuta, Shoichi; Miyawaki, Masakazu; Oishi, Ko; Yamaga, Hironobu; Aoyagi, Noriyuki; Iwahashi, Seiji; Miyashita, Ritsuko; Murata, Yuji; Sasago, Kumiko; Takahashi, Atsushi; Kamatani, Naoyuki; Kubo, Michiaki; Tsunoda, Tatsuhiko; Hata, Akira; Nakamura, Yusuke; Tanaka, Toshihiro (2012). "A genome-wide association study identifies three new risk loci for Kawasaki disease". Nature Genetics. 44 (5): 517–521. doi:10.1038/ng.2220. ISSN 1061-4036.
- ↑ Onouchi, Yoshihiro; Gunji, Tomohiko; Burns, Jane C; Shimizu, Chisato; Newburger, Jane W; Yashiro, Mayumi; Nakamura, Yoshikazu; Yanagawa, Hiroshi; Wakui, Keiko; Fukushima, Yoshimitsu; Kishi, Fumio; Hamamoto, Kunihiro; Terai, Masaru; Sato, Yoshitake; Ouchi, Kazunobu; Saji, Tsutomu; Nariai, Akiyoshi; Kaburagi, Yoichi; Yoshikawa, Tetsushi; Suzuki, Kyoko; Tanaka, Takeo; Nagai, Toshiro; Cho, Hideo; Fujino, Akihiro; Sekine, Akihiro; Nakamichi, Reiichiro; Tsunoda, Tatsuhiko; Kawasaki, Tomisaku; Nakamura, Yusuke; Hata, Akira (2007). "ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms". Nature Genetics. 40 (1): 35–42. doi:10.1038/ng.2007.59. ISSN 1061-4036.
- ↑ Onouchi, Yoshihiro; Ozaki, Kouichi; Burns, Jane C; Shimizu, Chisato; Terai, Masaru; Hamada, Hiromichi; Honda, Takafumi; Suzuki, Hiroyuki; Suenaga, Tomohiro; Takeuchi, Takashi; Yoshikawa, Norishige; Suzuki, Yoichi; Yasukawa, Kumi; Ebata, Ryota; Higashi, Kouji; Saji, Tsutomu; Kemmotsu, Yasushi; Takatsuki, Shinichi; Ouchi, Kazunobu; Kishi, Fumio; Yoshikawa, Tetsushi; Nagai, Toshiro; Hamamoto, Kunihiro; Sato, Yoshitake; Honda, Akihito; Kobayashi, Hironobu; Sato, Junichi; Shibuta, Shoichi; Miyawaki, Masakazu; Oishi, Ko; Yamaga, Hironobu; Aoyagi, Noriyuki; Iwahashi, Seiji; Miyashita, Ritsuko; Murata, Yuji; Sasago, Kumiko; Takahashi, Atsushi; Kamatani, Naoyuki; Kubo, Michiaki; Tsunoda, Tatsuhiko; Hata, Akira; Nakamura, Yusuke; Tanaka, Toshihiro (2012). "A genome-wide association study identifies three new risk loci for Kawasaki disease". Nature Genetics. 44 (5): 517–521. doi:10.1038/ng.2220. ISSN 1061-4036.