Possible Synergic Effect of Angiotensin-I Converting Enzyme Gene Insertion/Deletion Polymorphism and Angiotensin-II Type-1 Receptor 1166A/C Gene Polymorphism on Ischemic Heart Disease in Patients with Kawasaki Disease

Fukazawa, Ryuji; Sonobe, Tomoyoshi; Hamamoto, Kunihiro; Hamaoka, Kenji; Sakata, Koichi; Asano, Takeshi; Imai, Takehide; Kamisago, Mitsuhiro; Ohkubo, Takashi; Uchikoba, Yohko; Ikegami, Ei; Watanabe, Masato; Ogawa, Satoshi

doi:10.1203/01.pdr.0000139426.16381.c8

Cited by 37 publications

(20 citation statements)

References 40 publications

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“…34,35 The angiotensin-I-converting enzyme gene was reported to be associated with susceptibility to KD but not CAL formation in Taiwan, 36 and it was shown to be associated with the formation of severe coronary artery stenosis and myocardial ischemia in the Japan population. 37 In recent years, it has become clear that the intronic SNP (rs28493229) of ITPKC that is involved in the development of coronary artery abnormalities is an important factor in susceptibility to KD. 14 However, the results obtained from the genetic association study between rs28493229 and KD susceptibility is inconsistent in the Taiwanese population.…”

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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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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“…Considering that no significant linkage was detected near the 6p region in our genome-wide linkage analysis, 31 34 and MCP-1 35 ), hematopoietins (interleukin-4 (IL-4) [36][37][38] and IL-6 39 ), IL-1 family (IL-1b, 37 IL-18, 40 and IL-1Ra 37 ), IL-10 family (IL-10 41 ), platelet-derived growth factor family (vascular endothelial growth factor (VEGF) [42][43][44][45] and VEGFR2 42 ), and tumor necrosis factor (TNF) family (TNF-a, 46-50 lipoteichoic acid, 47 and CD40L 51,52 ). Other candidates include plasma proteins (C-reactive protein [53][54][55] and MBL2 53,55,56 ), matrix metalloproteinase (MMP) and their inhibitors (MMP2, 58 MMP3, 57,58 MMP-9, 58 MMP-12, 58 MMP-13, 58 and tissue inhibitors of metalloproteinase-2 59 ), enzymes related to atherosclerosis (methylenetetrahydrofolate reductase (MTHFR), 60 endothelial nitric oxide synthase, 61 and inducible nitric oxide synthase 61 ), components of the renin-angiotensin system (angiotensin-converting enzyme [62][63][64][65] and AGTR1 64 ), and an unclassified group (CD14, 66 FCGR2A, 67,68 SLC11A1, 69 PLA2G7, 70 UGT1A1, 71 MICA, 72 and HMOX1 71 ).…”

Section: Candidate Gene Approachmentioning

confidence: 99%

Susceptibility genes for Kawasaki disease: toward implementation of personalized medicine

Hata

Onouchi

2009

J Hum Genet

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Kawasaki disease (KD) is an acute systemic vasculitis syndrome, which primarily affects in children under the age of 5 years. In 20-25% of cases, if untreated, coronary artery lesions develop, making KD the leading cause of acquired heart disease in children in both Japan and the United States. Since 1970, 19 nationwide surveys of KD in Japan have been conducted every 2 years and the data are stored in a database. Even though the etiology of KD remains unknown, despite enthusiastic research spanning more than 40 years, we have learnt a great deal about KD from this enormous database. These 19 epidemiologic studies indicate a strong genetic influence on the disease susceptibility, prompting us and other researchers to identify the responsible genes for KD by applying either the candidate gene approach or the genome-wide approach. We have employed a genome-wide linkage study using affected sibling pair data of KD in Japan and have identified several susceptibility loci. Further analysis focusing on a region of chromosome 19, where one of the linked loci was detected, identified a predisposing gene, which codes inositol 1,4,5-trisphosphate 3-kinase C (ITPKC). In this review, we summarize the cumulative knowledge regarding KD, and then outline our hypothesis of the role ITPKC plays in KD susceptibility and our trial that aims toward the implementation of personalized medicine for KD.

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“…Even with extensive efforts using the genome-wide linkage studies, the responsible genetic determinants remain largely uncategorized [2][3][4]. Genetic epidemiology might provide insights into the pathophysiology of coronary restenosis and easily identifiable markers for predicting an increased restenosis risk [2,4,5]. Despite a lack of good evidence that susceptibility to restenosis is genetically determined, several studies have investigated polymorphisms that might be associated with restenosis [2,3,[5][6][7][8][9].…”

Section: Introductionmentioning

confidence: 99%

“…Genetic epidemiology might provide insights into the pathophysiology of coronary restenosis and easily identifiable markers for predicting an increased restenosis risk [2,4,5]. Despite a lack of good evidence that susceptibility to restenosis is genetically determined, several studies have investigated polymorphisms that might be associated with restenosis [2,3,[5][6][7][8][9]. Among the most studied genes for its association in pathogenesis of CAD and related outcomes is angiotensin converting enzyme (ACE) gene, located on chromosome 17q23.…”

Section: Introductionmentioning

confidence: 99%

ACE insertion/deletion polymorphism and restenosis events after coronary stent placement in East Azerbaijan Province of Iran

Aslanabadi¹,

Niaei²,

Monfaredan³

et al. 2016

Med-Science

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Possible Synergic Effect of Angiotensin-I Converting Enzyme Gene Insertion/Deletion Polymorphism and Angiotensin-II Type-1 Receptor 1166A/C Gene Polymorphism on Ischemic Heart Disease in Patients with Kawasaki Disease

Cited by 37 publications

References 40 publications

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

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

Susceptibility genes for Kawasaki disease: toward implementation of personalized medicine

ACE insertion/deletion polymorphism and restenosis events after coronary stent placement in East Azerbaijan Province of Iran

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