PMID- 28855716
OWN - NLM
STAT- MEDLINE
DCOM- 20180718
LR  - 20181113
IS  - 1435-232X (Electronic)
IS  - 1434-5161 (Linking)
VI  - 62
IP  - 12
DP  - 2017 Dec
TI  - A genome-wide association analysis identifies NMNAT2 and HCP5 as susceptibility 
      loci for Kawasaki disease.
PG  - 1023-1029
LID - 10.1038/jhg.2017.87 [doi]
AB  - Kawasaki disease (KD), a systemic vasculitis of infants and children, manifests 
      as fever and mucocutaneous inflammation. Although its etiology is largely 
      unknown, the epidemiological data suggest that genetic factors are important in 
      KD susceptibility. To identify genetic variants influencing KD susceptibility, we 
      performed a genome-wide association study (GWAS) and replication study using a 
      total of 915 children with KD and 4553 controls in the Korean population. Six 
      single-nucleotide polymorphisms (SNPs) in three loci were associated 
      significantly with KD susceptibility (P<1.0 x 10(-5)), including the previously 
      reported BLK locus (rs6993775, odds ratio (OR)=1.52, P=2.52 x 10(-11)). The other 
      two loci were newly identified: NMNAT2 on chromosome 1q25.3 (rs2078087, OR=1.33, 
      P=1.15 x 10(-6)) and the human leukocyte antigen (HLA) region on chromosome 
      6p21.3 (HLA-C, HLA-B, MICA and HCP5) (rs9380242, rs9378199, rs9266669 and 
      rs6938467; OR=1.33-1.51, P=8.93 x 10(-6) to 5.24 x 10(-8)). Additionally, SNP 
      rs17280682 in NLRP14 was associated significantly with KD with a family history 
      (18 cases vs 4553 controls, OR=6.76, P=5.46 x 10(-6)). These results provide new 
      insights into the pathogenesis and pathophysiology of KD.
FAU - Kim, Jae-Jung
AU  - Kim JJ
AD  - Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, 
      Korea.
FAU - Yun, Sin Weon
AU  - Yun SW
AD  - Department of Pediatrics, Chung-Ang University Hospital, Seoul, Korea.
FAU - Yu, Jeong Jin
AU  - Yu JJ
AD  - Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical 
      Center, Seoul, Korea.
FAU - Yoon, Kyung Lim
AU  - Yoon KL
AD  - Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul, 
      Korea.
FAU - Lee, Kyung-Yil
AU  - Lee KY
AD  - Department of Pediatrics, The Catholic University of Korea, Daejeon St Mary's 
      Hospital, Daejeon, Korea.
FAU - Kil, Hong-Ryang
AU  - Kil HR
AD  - Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea.
FAU - Kim, Gi Beom
AU  - Kim GB
AD  - Department of Pediatrics, Seoul National University Children's Hospital, Seoul, 
      Korea.
FAU - Han, Myung-Ki
AU  - Han MK
AD  - Department of Pediatrics, University of Ulsan, Gangneung Asan Hospital, 
      Gangneung, Korea.
FAU - Song, Min Seob
AU  - Song MS
AD  - Department of Pediatrics, Inje University Paik Hospital, Busan, Korea.
FAU - Lee, Hyoung Doo
AU  - Lee HD
AD  - Department of Pediatrics, Pusan National University Hospital, Busan, Korea.
FAU - Ha, Kee Soo
AU  - Ha KS
AD  - Department of Pediatrics, Korea University Hospital, Seoul, Korea.
FAU - Sohn, Sejung
AU  - Sohn S
AD  - Department of Pediatrics, Ewha Womans University Hospital, Seoul, Korea.
FAU - Johnson, Todd A
AU  - Johnson TA
AD  - Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical 
      Sciences, Yokohama, Japan.
FAU - Takahashi, Atsushi
AU  - Takahashi A
AD  - Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical 
      Sciences, Yokohama, Japan.
AD  - Laboratory for Omics Informatics, Omics Research Center, National Cerebral and 
      Cardiovascular Center, Osaka, Japan.
FAU - Kubo, Michiaki
AU  - Kubo M
AD  - Laboratory for Genotyping Development, RIKEN Center for Integrative Medical 
      Sciences, Yokohama, Japan.
FAU - Tsunoda, Tatsuhiko
AU  - Tsunoda T
AD  - Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical 
      Sciences, Yokohama, Japan.
AD  - Department of Medical Science Mathematics, Medical Research Institute, Tokyo 
      Medical and Dental University, Tokyo, Japan.
FAU - Ito, Kaoru
AU  - Ito K
AD  - Laboratory for Cardiovascular diseases, RIKEN Center for Integrative Medical 
      Sciences, Yokohama, Japan.
FAU - Onouchi, Yoshihiro
AU  - Onouchi Y
AD  - Laboratory for Cardiovascular diseases, RIKEN Center for Integrative Medical 
      Sciences, Yokohama, Japan.
AD  - Department of Public Health, Chiba University Graduate School of Medicine, Chiba, 
      Japan.
FAU - Hong, Young Mi
AU  - Hong YM
AD  - Department of Pediatrics, Ewha Womans University Hospital, Seoul, Korea.
FAU - Jang, Gi Young
AU  - Jang GY
AD  - Department of Pediatrics, Korea University Hospital, Seoul, Korea.
FAU - Lee, Jong-Keuk
AU  - Lee JK
AD  - Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, 
      Korea.
CN  - Korean Kawasaki Disease Genetics Consortium
LA  - eng
PT  - Journal Article
DEP - 20170831
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (HCP5 long noncoding RNA, human)
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 0 (RNA, Long Noncoding)
RN  - EC 2.7.7.1 (NMNAT2 protein, human)
RN  - EC 2.7.7.1 (Nicotinamide-Nucleotide Adenylyltransferase)
RN  - EC 3.6.1.15 (NLRP14 protein, human)
RN  - EC 3.6.1.15 (Nucleoside-Triphosphatase)
SB  - IM
MH  - Child
MH  - Genetic Loci/genetics
MH  - Genetic Predisposition to Disease
MH  - Genome-Wide Association Study
MH  - Genotype
MH  - Histocompatibility Antigens Class I/*genetics
MH  - Humans
MH  - Mucocutaneous Lymph Node Syndrome/*genetics/physiopathology
MH  - Nicotinamide-Nucleotide Adenylyltransferase/*genetics
MH  - Nucleoside-Triphosphatase/genetics
MH  - Odds Ratio
MH  - Polymorphism, Single Nucleotide/*genetics
MH  - RNA, Long Noncoding/*genetics
MH  - Republic of Korea
FIR - Yu, Jeong Jin
IR  - Yu JJ
FIR - Park, In-Sook
IR  - Park IS
FIR - Hong, Soo-Jong
IR  - Hong SJ
FIR - Kim, Kwi-Joo
IR  - Kim KJ
FIR - Lee, Jong-Keuk
IR  - Lee JK
FIR - Kim, Jae-Jung
IR  - Kim JJ
FIR - Hong, Young Mi
IR  - Hong YM
FIR - Sohn, Sejung
IR  - Sohn S
FIR - Jang, Gi Young
IR  - Jang GY
FIR - Ha, Kee-Soo
IR  - Ha KS
FIR - Nam, Hyo-Kyoung
IR  - Nam HK
FIR - Byeon, Jung-Hye
IR  - Byeon JH
FIR - Yun, Sin Weon
IR  - Yun SW
FIR - Han, Myung-Ki
IR  - Han MK
FIR - Lee, Kyung-Yil
IR  - Lee KY
FIR - Hwang, Ja-Young
IR  - Hwang JY
FIR - Rhim, Jung-Woo
IR  - Rhim JW
FIR - Song, Min Seob
IR  - Song MS
FIR - Lee, Hyoung Doo
IR  - Lee HD
FIR - Kim, Dong Soo
IR  - Kim DS
FIR - Yoon, Kyung Lim
IR  - Yoon KL
FIR - Kil, Hong-Ryang
IR  - Kil HR
FIR - Kim, Gi Beom
IR  - Kim GB
FIR - Lee, Jae-Moo
IR  - Lee JM
FIR - Kim, Jong-Duk
IR  - Kim JD
EDAT- 2017/09/01 06:00
MHDA- 2018/07/19 06:00
CRDT- 2017/09/01 06:00
PHST- 2017/06/08 00:00 [received]
PHST- 2017/07/11 00:00 [revised]
PHST- 2017/07/31 00:00 [accepted]
PHST- 2017/09/01 06:00 [pubmed]
PHST- 2018/07/19 06:00 [medline]
PHST- 2017/09/01 06:00 [entrez]
AID - jhg201787 [pii]
AID - 10.1038/jhg.2017.87 [doi]
PST - ppublish
SO  - J Hum Genet. 2017 Dec;62(12):1023-1029. doi: 10.1038/jhg.2017.87. Epub 2017 Aug 
      31.