Study: JGAS00000000144




TitleA multicenter study of susceptibility genes to type 1 diabetes
AbstractThe first genome-wide association study of fulminant type 1 diabetes mellitus was performed in Japanese individuals. As previously reported using a candidate gene approach, a strong association was observed with multiple SNPs in the HLA region, and the strongest association was seen for rs9268853 in the class II DR region (P=1.56 x 10-23, odds ratio [OR] 3.18). In addition, rs11170445 in CSAD/lnc-ITGB7-1 on chromosome 12q13.13 showed an association at a genome-wide significance level (P=7.58 x 10-9, OR 1.96). Fine mapping of the region revealed that rs3782151 in CSAD/lnc-ITGB7-1 showed the lowest P value (P=4.60 x 10-9, OR 1.97 [95% CI 1.57-2.48]). The risk allele of rs3782151 is a cis-expression quantitative trait locus (eQTL) for ITGB7 that significantly increases the expression of this gene. CSAD/lnc-ITGB7-1 was strongly associated with the susceptibility to fulminant, but not classical autoimmune, type 1 diabetes, implicating this locus in the distinct phenotype of fulminant type 1 diabetes.
Study Type
Study TypeCase-Control


PubMed ID30552108
Publication Statuspublished

Study Attribute

NBDC Numberhum0137
Registration date2018-07-17
Submitting organizationDepartment of Endocrinology, Metabolism and Diabetes Kinkdai University Faculty of Medicine
Principal InvestigatorHiroshi Ikegami
Molecular Data TypeAmplicon Sequencing
PlatformIon Proton
VendorThermo Fisher Scientific
Primary Phenotypefulminant type 1 diabetes mellitus
Accession Title Dataset type Data objects Policy
JGAD00000000213 Re-sequencing of CSAD region in 32 Japanese type 1 diabetes patients 32 JGAP00000000001