Genetic Polymorphism of SMAD5 is Associated With Kawasaki Disease

Cho, Ja Hyang; Han, Mi Young; Ho, Sung; Jung, Joo Ho; Yoon, Kyung Lim

doi:10.1007/s00246-013-0826-x

Cited by 13 publications

(9 citation statements)

References 32 publications

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“…Another report from our group revealed that 1 SNP (rs3206634; T>C) of SMAD5 was associated with susceptibility to KD, but not associated with patients with CAL in a recessive model. This suggests that the minor allele C may increase the risk of development of KD approximately 2.3 folds, compared with the control group in the Korean population 23) .…”

Section: Tgf-β Signaling Pathwaymentioning

confidence: 90%

Update of genetic susceptibility in patients with Kawasaki disease

Yoon

2015

Korean J Pediatr

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Kawasaki disease (KD) is an acute systemic vasculitis that predominantly affects children, and can result in coronary artery lesions (CAL). A patient with KD who is resistant to treatment with intravenous immunoglobulin (IVIG) has a higher risk of developing CAL. Incomplete KD has increased in prevalence in recent years, and is another risk factor for the development of CAL. Although the pathogenesis of KD remains unclear, there has been increasing evidence for the role of genetic susceptibility to the disease since it was discovered in 1967. We retrospectively reviewed previous genetic research for known susceptibility genes in the pathogenesis of KD, IVIG resistance, and the development of CAL. This review revealed numerous potential susceptibility genes including genetic polymorphisms of ITPKC, CASP3, the transforming growth factor-β signaling pathway, B lymphoid tyrosine kinase, FCGR2A, KCNN2, and other genes, an imbalance of Th17/Treg, and a range of suggested future treatment options. The results of genetic research may improve our understanding of the pathogenesis of KD, and aid in the discovery of new treatment modalities for high-risk patients with KD.

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Section: Tgf-β Signaling Pathwaymentioning

confidence: 90%

Update of genetic susceptibility in patients with Kawasaki disease

Yoon

2015

Korean J Pediatr

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“…set 2)276/282““xOnouchi et al [92] (Indep. set 3)267/752““xOnouchi et al [95]546/947Yes ( ITPKC )Yes ( ITPKC ) i Yes ( ITPKC ) i ChinesePeng et al [97]223/318Yes ( ITPKC )Yes (ITPKC)NoKhor et al [61]130/568Yes ( ITPKC )xxTaiwaneseChi et al [18]385 (of which 158 trios)/1158NoNoxLin et al [73]280/492Yes ( ITPKC )NoxKuo et al [71]341/1190Yes ( ITPKC )Yes ( ITPKC ) j NoAbove-mentioned studies combined999/2781Yes ( ITPKC )xxKuo et al [68]381/569No k Yes ( ITPKC )xKhor et al [61]438/446Yes ( ITPKC )xxEuropeanKhor et al [61] (GWAS)405/6252 (10)Yes ( ITPKC )xxKhor et al [61] (Replication) 605 trios, 139 siblings l “xxUSOnouchi et al [92]209 triosYes ( ITPKC )Yes ( ITPKC )Yes ( ITPKC )TGF-β pathwayJapaneseCho et al [20]105/303Yes ( SMAD5 )NoxHan ChinesePeng et al [98]392/421Yes ( TGFB2 , SMAD3 , ADAM17 )Yes ( TGFB2 )NoTaiwaneseKuo et al [70]381/569Yes ( SMAD3 )NoNoKoreanChoi et al [21]105/500Yes ( TGFBR2 )Yes ( TGFBR2 )xEuropean descent…”

Section: Geneticsmentioning

confidence: 99%

Dissecting Kawasaki disease: a state-of-the-art review

et al. 2017

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Kawasaki disease (KD) is a pediatric vasculitis with coronary artery aneurysms (CAA) as its main complication. The diagnosis is based on the presence of persistent fever and clinical features including exanthema, lymphadenopathy, conjunctival injection, and changes to the mucosae and extremities. Although the etiology remains unknown, the current consensus is that it is likely caused by an (infectious) trigger initiating an abnormal immune response in genetically predisposed children. Treatment consists of high dose intravenous immunoglobulin (IVIG) and is directed at preventing the development of CAA. Unfortunately, 10–20% of all patients fail to respond to IVIG and these children need additional anti-inflammatory treatment. Coronary artery lesions are diagnosed by echocardiography in the acute and subacute phases. Both absolute arterial diameters and z-scores, adjusted for height and weight, are used as criteria for CAA. Close monitoring of CAA is important as ischemic symptoms or myocardial infarction due to thrombosis or stenosis can occur. These complications are most likely to arise in the largest, so-called giant CAA. Apart from the presence of CAA, it is unclear whether KD causes an increased cardiovascular risk due to the vasculitis itself. Conclusion: Many aspects of KD remain unknown, although there is growing knowledge on the etiology, treatment, and development and classification of CAA. Since children with previous KD are entering adulthood, long-term follow-up is increasingly important. What is known: • Kawasaki disease (KD) is a pediatric vasculitis with coronary artery damage as its main complication. • Although KD approaches its 50th birthday since its first description, many aspects of the disease remain poorly understood. What is new: • In recent years, multiple genetic candidate pathways involved in KD have been identified, with recently promising information about the ITPKC pathway. • As increasing numbers of KD patients are reaching adulthood, increasing information is available about the long-term consequences of coronary artery damage and broader cardiovascular risk.

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“…This tool can better explore the association between diseases and gene function when combined with the analysis of biological mechanisms (Gong et al, ; Zou et al., ). Previous studies discovered that various genetic variations played potential roles in the occurrence and progression of KD, such as the genetic polymorphisms of B‐cell lymphoid kinase ( BLK ), human leukocyte antigen ( HLA ), CD40 , inositol 1,4,5‐trisphosphate 3‐kinase C ( ITPKC ), caspase‐3 ( CASP3 ), mothers against decapentaplegic homolog ( SMAD ), and cytotoxic T lymphocyte associated antigen‐4 ( CTLA‐4 ) (Cho, Han, Cha, Jung, & Yoon, ; Kuo et al., ; Lou et al., ; Onouchi et al., ; Onouchi et al., ; Yan et al., ). Multifarious GWAS analysis and genomic function studies have also uncovered relationships among SNPs in platelet endothelial aggregation receptor 1 ( PEAR1 ) loci and cardiovascular diseases primarily involved in endothelial (e.g., endothelial migration and angiogenesis) and platelet functions (Backman et al., ; Faraday et al., ; Fisch et al., ; Lewis et al., ; Vandenbriele et al., ).…”

Section: Introductionmentioning

confidence: 99%

A PEAR1 polymorphism (rs12041331) is associated with risk of coronary artery aneurysm in Kawasaki disease

et al. 2018

Annals of Human Genetics

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Kawasaki disease (KD) is an acute systemic vasculitis that is most seriously complicated by coronary artery aneurysm (CAA). The polymorphisms of platelet endothelial aggregation receptor 1 (PEAR1), notably rs12041331 and rs12566888, were found to be closely related to cardiac disease. However, little is known regarding the connection between PEAR1 and KD. In this study, we genotyped PEAR1 rs12566888 and rs12041331 in 637 healthy infants and 694 KD patients (74 with CAA). Subsequently, odds ratio (OR) and 95% confidence interval (CI) were calculated to assess the strength of their relationships. No significant differences in the frequency of rs12566888 or rs12041331 in PEAR1 were observed between KD and healthy controls. However, regardless of the statistical combination of rs12566888 genotype, the rs12041331 recessive inheritance model was associated with an increased risk of CAA after Bonferroni correction (for rs12041331, AA vs. GG/GA: adjusted OR = 2.37, 95% CI = 1.41-4.01, P = 0.009; combination of two recessive genotypes vs. combination of 0-1 recessive genotypes: adjusted OR = 2.39, 95% CI = 1.42-4.04, P = 0.009). This study suggests for the first time that PEAR1 polymorphisms did not indicate susceptibility for KD occurrence but the rs12041331 polymorphism was associated with increased risk of CAA formation in KD, and the functions of the gene warrant further research.

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Genetic Polymorphism of SMAD5 is Associated With Kawasaki Disease

Cited by 13 publications

References 32 publications

Update of genetic susceptibility in patients with Kawasaki disease

Update of genetic susceptibility in patients with Kawasaki disease

Dissecting Kawasaki disease: a state-of-the-art review

A PEAR1 polymorphism (rs12041331) is associated with risk of coronary artery aneurysm in Kawasaki disease

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