PMID- 31965063
OWN - NLM
STAT- MEDLINE
DCOM- 20201008
LR  - 20210120
IS  - 1435-232X (Electronic)
IS  - 1434-5161 (Linking)
VI  - 65
IP  - 4
DP  - 2020 Apr
TI  - Association of the IL16 Asn1147Lys polymorphism with intravenous immunoglobulin 
      resistance in Kawasaki disease.
PG  - 421-426
LID - 10.1038/s10038-020-0721-2 [doi]
AB  - Kawasaki disease (KD) is an acute, self-limited vasculitis, mainly affecting 
      children younger than 5 years old, with accompanying fever and signs of 
      mucocutaneous inflammation. Intravenous immunoglobulin (IVIG) is the standard 
      treatment for KD; however, ~15% of patients are resistant to IVIG treatment. To 
      identify protein coding genetic variants influencing IVIG resistance, we 
      re-analyzed our previous genome-wide association study (GWAS) data from 296 
      patients with KD, including 101 IVIG non-responders and 195 IVIG responders. Five 
      nonsynonymous SNPs (nsSNPs) in five immune-related genes, including a previously 
      reported SAMD9L nsSNP (rs10488532; p.Val266Ile), were associated with IVIG 
      non-response (odds ratio [OR] = 1.89-3.46, P = 0.0109-0.0035). In a replication 
      study of the four newly-identified nsSNPs, only one in the interleukin 16 (IL16) 
      gene (rs11556218, p.Asn1147Lys) showed a trend of association with IVIG 
      non-response (OR = 1.54, P = 0.0078). The same IL16 nsSNP was more significantly 
      associated with IVIG non-response in combined analysis of all data (OR = 1.64, 
      P = 1.25 x 10(-4)). Furthermore, risk allele combination of the IL16 CT and 
      SAMD9L TT nsSNP genotypes exhibited a very strong effect size (OR = 9.19, 
      P = 3.63 x 10(-4)). These results implicate IL16 as involved in the mechanism of 
      IVIG resistance in KD.
FAU - Kim, Hea-Ji
AU  - Kim HJ
AD  - Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, 
      Korea.
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 - Hong, Young Mi
AU  - Hong YM
AD  - Department of Pediatrics, Ewha Woman's 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
AUID- ORCID: 0000-0003-1125-4017
AD  - Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, 
      Korea. cookie_jklee@hotmail.com.
CN  - Korean Kawasaki Disease Genetics Consortium
LA  - eng
GR  - 2019R1F1A1061238/National Research Foundation of Korea (NRF)/
PT  - Clinical Trial
PT  - Journal Article
PT  - Multicenter Study
DEP - 20200122
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (Il16 protein, human)
RN  - 0 (Immunoglobulins, Intravenous)
RN  - 0 (Interleukin-16)
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Drug Resistance/*genetics
MH  - Female
MH  - Genome-Wide Association Study
MH  - Humans
MH  - Immunoglobulins, Intravenous/*administration & dosage
MH  - Infant
MH  - Interleukin-16/*genetics
MH  - Male
MH  - *Mucocutaneous Lymph Node Syndrome/drug therapy/genetics
MH  - *Mutation, Missense
MH  - *Polymorphism, Single Nucleotide
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 - Jun, Hyun Ok
IR  - Jun HO
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- 2020/01/23 06:00
MHDA- 2020/10/09 06:00
CRDT- 2020/01/23 06:00
PHST- 2019/12/04 00:00 [received]
PHST- 2020/01/05 00:00 [accepted]
PHST- 2019/12/27 00:00 [revised]
PHST- 2020/01/23 06:00 [pubmed]
PHST- 2020/10/09 06:00 [medline]
PHST- 2020/01/23 06:00 [entrez]
AID - 10.1038/s10038-020-0721-2 [pii]
AID - 10.1038/s10038-020-0721-2 [doi]
PST - ppublish
SO  - J Hum Genet. 2020 Apr;65(4):421-426. doi: 10.1038/s10038-020-0721-2. Epub 2020 
      Jan 22.