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To search a gene(s) conferring susceptibility to type 2 diabetes mellitus, we genotyped nearly 60,000 gene-based SNPs for Japanese patients and found evidence that the gene at chromosome 6p12 encoding transcription-factor-activating protein 2beta (TFAP2B) was a likely candidate in view of significant association of polymorphism in this gene with type 2 diabetes. Extensive analysis of this region identified that several variations within TFAP2B were significantly associated with type 2 diabetes [a variable number of tandem repeat locus: chi(2)=10.9, P=0.0009; odds ratio=1.57, 95% CI 1.20-2.06, intron 1+774 (G/T); chi(2)=11.6, P=0.0006; odds ratio=1.60, 95% CI 1.22-2.09, intron 1+2093 (A/C); chi(2)=12.2, P=0.0004; odds ratio=1.61, 95% CI 1.23-2.11]. The association of TFAP2B with type 2 diabetes was also observed in the UK population. These results suggest that TFAP2B might be a new candidate for conferring susceptibility to type 2 diabetes and contribute to the pathogenesis of type 2 diabetes.

Original publication




Journal article


J Hum Genet

Publication Date





283 - 292


Base Sequence, DNA Primers, DNA-Binding Proteins, Diabetes Mellitus, Type 2, Gene Expression Profiling, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Japan, Linkage Disequilibrium, Molecular Sequence Data, Odds Ratio, Polymorphism, Single Nucleotide, Regression Analysis, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, DNA, Transcription Factor AP-2, Transcription Factors, United Kingdom