Genetic Variations of HLA-DRB1 and Susceptibility to Kawasaki Disease in Taiwanese Children

Huang, Fu‐Yuan; Chang, Tzu-Yang; Chen, Ming–Ren; Hsu, Chyong-Hsin; Lee, Hung‐Chang; Lin, Shuan‐Pei; Kao, Hsin-An; Chiu, Nan-Chang; Chi, Hsin; Liu, Tiffany Yi-Chen; Hsin-Fu, Liu; Dang, Ching-Wen; Chu, Chen‐Chung; Lin, Min; Sung, Tseng-Chen; Lee, Yann-Jinn

doi:10.1016/j.humimm.2006.10.018

Cited by 22 publications

(16 citation statements)

References 44 publications

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“…As a result of their involvement in immune response, HLA genes have been extensively studied in association with outcomes of autoimmune and infectious diseases. Unlike in other diseases, the role of HLA genes in relation to KD has not been well defined, although a few early reports exist (Fildes et al , 1992; Huang et al , 2007; Kaslow et al , 1985; Kato et al , 1978; Keren et al , 1982; Krensky et al , 1981; Krensky et al , 1983; Matsuda et al , 1977; Oh et al , 2008). Recently, we replicated findings from GWA studies showing an association between a SNP (rs2857151) in HLA Class II region and KD susceptibility (Shendre et al , 2014).…”

Section: Introductionmentioning

confidence: 99%

Imputation of class I and II HLA loci using high‐density SNPs from ImmunoChip and their associations with Kawasaki disease in family‐based study

Shrestha

Wiener

Aissani

et al. 2015

Int J Immunogenetics

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Summary Kawasaki disease (KD) is the leading cause of acquired heart disease in children in most developed countries including the United States. The etiology of KD is not known; however, epidemiological and immunological data suggest infectious or immune-related factors in the manifestation of the disease. Further, KD has several hereditary features that strongly suggest a genetic component to disease pathogenesis. Human leukocyte antigen (HLA) loci have also been reported to be associated with KD but results have been inconsistent, in part, because of small study samples and varying linkage disequilibrium (LD) patterns observed across different ethnic groups. To maximize the informativeness of single nucleotide polymorphism (SNP) genotypes in the major histocompatibility (MHC) region, we imputed classical HLA I (A, B, C) and HLA II (DRB1, DQA1, DQB1) alleles using SNP2HLA method from genotypes of 6700 SNPs within the extended MHC region contained in the ImmunoChip among 112 white KD patients and their biological parents from North America and tested their association with KD susceptibility using the transmission disequilibrium test. Mendelian consistency in the trios suggested high accuracy and reliability of the imputed alleles (class I=97.5%, class II=96.6%). While several SNPs in the MHC region were individually associated with KD susceptibility, we report over-transmission of HLA-C*15 (z=+2.19, P=0.03) and under-transmission of HLA-B*44 (z=−2.49, P=0.01) alleles from parents to KD patients. HLA-B*44 has been associated with KD in other smaller studies and both HLA-C*15 and HLA-B*44 have biological mechanisms that could potentially be involved in KD pathogenesis. Overall, inferring HLA loci within the same ethnic group, using family based information is a powerful approach. However, larger families are warranted to evaluate the correlations of the strength and directions between the SNPs in MHC region and the imputed HLA alleles with KD.

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Section: Introductionmentioning

confidence: 99%

Imputation of class I and II HLA loci using high‐density SNPs from ImmunoChip and their associations with Kawasaki disease in family‐based study

Shrestha

Wiener

Aissani

et al. 2015

Int J Immunogenetics

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“…The roles of HLAs from the MHC region have been investigated in immune-mediated vascular diseases (21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32). However, HLAs that contribute to the pathogenesis of KD have been less well characterized.…”

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confidence: 99%

HLA–E gene polymorphism associated with susceptibility to kawasaki disease and formation of coronary artery aneurysms

Lin¹,

Wan²,

Wu³

et al. 2009

Arthritis & Rheumatism

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Objective. Kawasaki disease (KD) is a pediatric systemic vasculitis of unknown cause for which a genetic influence is supposed. The purpose of this study was to identify possible genetic variants in the major histocompatibility complex (MHC) region that are associated with KD and the development of coronary artery aneurysms (CAAs) in a Taiwanese population.Methods. The 168 genetic variants covering the MHC locus were analyzed in an association study of a Taiwanese cohort of 93 KD patients and 680 unrelated healthy children matched for sex and age with the study patients.Results. Eleven single-nucleotide polymorphisms (SNPs) were associated with the occurrence of KD. The SNP located at the 3 -untranslated region of HLA-E (rs2844724) was highly associated (P < 1 ؋ 10 ؊7 ). In addition, the frequency of the C allele was higher in KD patients without CAAs than in controls (P < 0.001) due to a significantly increased frequency of the CC and CT genotypes. Plasma levels of soluble HLA-E were significantly higher in KD patients than in controls regardless of the presence of CAAs. Furthermore, there was a trend toward higher plasma levels of soluble HLA-E in KD patients with the CT and TT genotypes of the HLA-E gene polymorphism.Conclusion. Our results suggest that the HLA-E gene polymorphism may play a role in the pathogenesis of KD.

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“…HLA-B*5801 allele is a genetic marker for severe cutaneous adverse reactions caused by allopurinol (Hung et al, 2005). The HLA-DR gene variations were not associated with susceptibility for KD and CALs in Taiwanese population (Huang et al, 2007). HLA-G plays a crucial role for the susceptibility to KD and CAL .…”

Section: The G-g-g-t-t-t-t-g-g and C-g-g-t-t-t-t-a-amentioning

confidence: 94%

Major Histocompatibility Complex Class I Chain-Related Gene Polymorphisms: Associated with Susceptibility to Kawasaki Disease and Coronary Artery Aneurysms

Hsieh

Chang²,

Chen

et al. 2011

Genetic Testing and Molecular Biomarkers

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Genetic Variations of HLA-DRB1 and Susceptibility to Kawasaki Disease in Taiwanese Children

Cited by 22 publications

References 44 publications

Imputation of class I and II HLA loci using high‐density SNPs from ImmunoChip and their associations with Kawasaki disease in family‐based study

Imputation of class I and II HLA loci using high‐density SNPs from ImmunoChip and their associations with Kawasaki disease in family‐based study

HLA–E gene polymorphism associated with susceptibility to kawasaki disease and formation of coronary artery aneurysms

Major Histocompatibility Complex Class I Chain-Related Gene Polymorphisms: Associated with Susceptibility to Kawasaki Disease and Coronary Artery Aneurysms

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