Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans
Genomics & Informatics
; : 126-131, 2015.
Article
em En
| WPRIM
| ID: wpr-42762
Biblioteca responsável:
WPRO
ABSTRACT
Fulminant type 1 diabetes (T1DM) is a distinct subtype of T1DM that is characterized by rapid onset hyperglycemia, ketoacidosis, absolute insulin deficiency, and near normal levels of glycated hemoglobin at initial presentation. Although it has been reported that class II human leukocyte antigen (HLA) genotype is associated with fulminant T1DM, the genetic predisposition is not fully understood. In this study we investigated the HLA genotype and haplotype in 11 Korean cases of fulminant T1DM using imputation of whole exome sequencing data and compared its frequencies with 413 participants of the Korean Reference Panel. The HLA-DRB1*04:05-HLA-DQB1*04:01 haplotype was significantly associated with increased risk of fulminant T1DM in Fisher's exact test (odds ratio [OR], 4.11; 95% confidence interval [CI], 1.56 to 10.86; p = 0.009). A histidine residue at HLA-DRbeta1 position 13 was marginally associated with increased risk of fulminant T1DM (OR, 2.45; 95% CI ,1.01 to 5.94; p = 0.054). Although we had limited statistical power, we provide evidence that HLA haplotype and amino acid change can be a genetic risk factor of fulminant T1DM in Koreans. Further large-scale research is required to confirm these findings.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Haplótipos
/
Hemoglobinas Glicadas
/
Autoimunidade
/
Fatores de Risco
/
Predisposição Genética para Doença
/
Exoma
/
Genótipo
/
Histidina
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Antígenos HLA
/
Hiperglicemia
Tipo de estudo:
Etiology_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Genomics & Informatics
Ano de publicação:
2015
Tipo de documento:
Article