Clinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease

Lin, Min; Wang, Jou‐Kou; Yeh, Jih‐I; Sun, Li-Chuan; Chen, Pei‐Lung; Wu, Jiafeng; Chang, Chien-Chih; Lee, Wen-Li; Shen, Chin-Tsuen; Wang, Nan-Koong; Wu, Chiou-Sen; Yeh, Su-Zen; Chen, Chun-An; Chiu, Shuenn–Nan; Wu, Mei‐Hwan

doi:10.1097/inf.0b013e3181f43a4e

Cited by 66 publications

(47 citation statements)

References 22 publications

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“…These novel insights into genetic mechanism clearly provide a new understanding of the pathogenesis of KD. In contrast, the results obtained from the replication studies in the Taiwanese populations are strikingly controversial [62,63] . A similar approach was taken by Chi et al [62] .…”

Section: Genetic Polymorphisms Of the Itpkc Signaling Pathway In Paticontrasting

confidence: 42%

“…However, there were no significant differences in the genotype of rs28493229 between the controls and children with KD. The results from a study by Lin et al [63] in another independent medical center in Taipei indicated that the C allele of rs28493229 is associated with KD susceptibility. Recently, new results using meta-analysis showed that the rs28493229 SNP of ITPKC is associated with the susceptibility to KD in the Taiwanese population [39] .…”

Section: Genetic Polymorphisms Of the Itpkc Signaling Pathway In Patimentioning

confidence: 90%

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Genetic polymorphisms in Kawasaki disease

Kuo

Chang²

2011

Acta Pharmacol Sin

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Kawasaki disease (KD) is an acute febrile systemic vasculitis, and the cause of KD is not well understood. It is likely due to multiple interactions between genes and environmental factors. The development of genetic association and genome-wide association studies (GWAS) has opened an avenue to better understanding the molecular mechanisms underlying KD. A novel ITPKC signaling pathway was recently found to be responsible for the susceptibility to KD. Furthermore, the GWAS demonstrated the functionally related susceptibility loci for KD in the Caucasian population. In the last decade, the identification of several genomic regions linked to the pathogenesis of KD has made a major breakthrough in understanding the genetics of KD. This review will focus on genetic polymorphisms associated with KD and describe some of the possible clinical implications and molecular mechanisms that can be used to explain how genetic variants regulate the pathogenesis in KD.

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Section: Genetic Polymorphisms Of the Itpkc Signaling Pathway In Paticontrasting

confidence: 42%

Section: Genetic Polymorphisms Of the Itpkc Signaling Pathway In Patimentioning

confidence: 90%

Genetic polymorphisms in Kawasaki disease

Kuo

Chang²

2011

Acta Pharmacol Sin

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“…KD may lead to formation of coronary artery aneurysms and to ischemic heart disease, myocardial infarction and sudden death (Hata and Onouchi, 2009). The link between this ITPKC polymorphism and KD (or resistance to KD treatment) was confirmed in other studies, but others failed to reproduce these results and no association of the ITPKC locus with KD was detected (Burgner et al, 2009;Khor et al, 2011;Kuo et al, 2011;Lin et al, 2011;Onouchi et al, 2013;Peng et al, 2012).…”

Section: Introductionmentioning

confidence: 48%

Specific expression and function of inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) in wild type and knock-out mice

Scoumanne

Molina-Ortíz

Monteyne

et al. 2016

Advances in Biological Regulation

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a b s t r a c tInositol 1,4,5-trisphosphate 3-kinase C (ITPKC) is the last identified member of the inositol 1,4,5-trisphosphate 3-kinases family which phosphorylates inositol 1,4,5-trisphosphate into inositol 1,3,4,5-tetrakisphosphate. Although expression and function of the two other family members ITPKA and ITPKB are rather well characterized, similar information is lacking for ITPKC. Here, we first defined the expression of Itpkc mRNA and protein in mouse tissues and cells using in situ hybridization and new antibodies. Surprisingly, we found that cells positive for ITPKC in the studied tissues express either a multicilium (tracheal and bronchial epithelia, brain ependymal cells), microvilli forming a brush border (small and large intestine, and kidney proximal tubule cells) or a flagellum (spermatozoa), suggesting a role for ITPKC either in the development or the function of these specialized cellular structures. Given this surprising expression, we then analyzed ITPKC function in multiciliated tracheal epithelial cells and sperm cells using our Itpkc knock-out mouse model. Unfortunately, no significant difference was observed between control and mutant mice for any of the parameters tested, leaving the exact in vivo function of this third Ins(1,4,5)P3 3-kinase still open.

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“…14 However, the results obtained from the genetic association study between rs28493229 and KD susceptibility is inconsistent in the Taiwanese population. 16,38 A larger sample size will be required to clarify this point. Taken together, the genetic studies of KD showed varied results in different studies from different populations, indicating that the genes responsible for KD varied with countries, ethnicity or area.…”

Section: Discussionmentioning

confidence: 99%

CASP3 gene single-nucleotide polymorphism (rs72689236) and Kawasaki disease in Taiwanese children

Kuo

Juo

et al. 2010

J Hum Genet

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,9,10Kawasaki disease (KD) is characterized by systemic vasculitis of unknown etiology. A study from Japan reported that G to A substitution of a single-nucleotide polymorphism (SNP) located in the 5¢-untranslated region of caspase 3 (CASP3) (rs72689236), which was associated with nuclear factor of activated T cell-mediated T-cell activation, is responsible for susceptibility to KD. This study was conducted to investigate whether the polymorphism of CASP3 is responsible for susceptibility and coronary artery lesion (CAL) formation in KD in the Taiwanese population. A total of 1092 subjects (341 KD patients and 751 controls) were investigated to identify an SNP of rs72689236 using Invader assays (Third Wave Technologies). Our data provided a borderline significant association between the genotypes and allele frequency of rs72689236 in control subjects and KD patients (P¼0.0535 under the dominant model; P¼0.0575 under the allelic model). The A allele of rs72689236 in KD patients and in patients with CAL and intravenous immunoglobulin resistance was seen in a higher frequency. Importantly, a significant association was obtained between rs72689236 and KD patients with aneurysm formation (P¼0.009, under the recessive model). The A allele of rs72689236 is very likely to be a risk allele in the development of aneurysm in patients with KD.

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Clinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease

Cited by 66 publications

References 22 publications

Genetic polymorphisms in Kawasaki disease

Genetic polymorphisms in Kawasaki disease

Specific expression and function of inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) in wild type and knock-out mice

CASP3 gene single-nucleotide polymorphism (rs72689236) and Kawasaki disease in Taiwanese children

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