Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus
Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus
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DOI：
10.1007/s10038-005-0253-9
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发表时间：
2005-01-01
影响因子：
3.5
通讯作者：
Nakamura, Y
中科院分区：
文献类型：
--
作者：
Maeda, S;Shuichi, T;Nakamura, Y
为了寻找导致 2 型糖尿病易感性的基因，我们对日本患者的近 60,000 个基于基因的 SNP 进行了基因分型，并发现证据表明，编码转录因子激活蛋白 2 beta (TFAP2B) 的染色体 6p12 上的基因可能是候选基因，因为该基因的多态性与 2 型糖尿病存在显着关联。对该区域的广泛分析发现，TFAP2B 内的几个变异与 2 型糖尿病显着相关[串联重复基因座数量可变：chi(2) = 10.9，P=0.0009；比值比 1.57，95% CI 1.20-2.06，内含子 1+ 774 (G/T) chi(2) = 11.6，P=0.0006；比值比=1.60，95% CI 1.22-2.09，内含子1+2093 (A/C)；卡(2) = 12.2，P = 0.0004；比值比 1.61，95% CI 1.23-2.11]。在英国人群中也观察到 TFAP2B 与 2 型糖尿病的关联。这些结果表明，TFAP2B 可能是赋予 2 型糖尿病易感性的新候选者，并有助于 2 型糖尿病的发病机制。
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 2 beta (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.