Genetic variation screening and association studies of the adenylate cyclase activating polypeptide 1 (ADCYAP1) gene in patients with type 2 diabetes.
Genetic variation screening and association studies of the adenylate cyclase activating polypeptide 1 (ADCYAP1) gene in patients with type 2 diabetes.
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DOI：
10.1002/humu.9034
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发表时间：
2002-05-01
期刊：
影响因子：
3.9
通讯作者：
Gu, Harvest F
中科院分区：
文献类型：
--
作者：
Gu, Harvest F
腺苷酸环化酶激活多肽 1 (ADCYAP1) 是一种胰腺神经肽，可调节葡萄糖刺激的胰岛素分泌。 ADCYAP1 基因位于与 2 型糖尿病相关的染色体 18p11 上。为了测试它是否是 2 型糖尿病的候选基因，在芬兰和瑞典的 2 型糖尿病患者中对该基因进行了筛查。发现了两个新的 SNP，ADCYAP1 基因（登录号 X60435）的外显子 3 中的 g.9863G>A (G54D) 和外显子 5 的 3'-UTR 中的 g.12712C>G。然后对总共 253 名 2 型糖尿病患者和 253 名非糖尿病对照受试者进行 PCR-RFLP 基因分型。在 132 个亲子三人组中进行了传递不平衡测试 (TDT)。 ADCYAP1基因g.9863G>A（G54D）和g.12712C>G的G等位基因频率在2型糖尿病患者中高于非糖尿病对照者（21.0% vs 15.8%，P=0.04；5.3% vs 3.0%，P=0.045）。然而，不同基因型携带者之间的临床变量没有显着差异，并且在 132 个亲子三人组中也没有观察到 SNP g.9863G>A (G54D) 的 G 等位基因的传递畸变。因此，本研究表明 ADCYAP1 基因的变异可能不是芬兰和瑞典白种人患 2 型糖尿病的主要影响因素。
Adenylate cyclase activating polypeptide 1 (ADCYAP1) is a pancreatic neuropeptide and modulates glucose-stimulated insulin secretion. The ADCYAP1 gene is located on chromosome 18p11 linked to type 2 diabetes. To test whether it is a candidate gene for type 2 diabetes, screening of the gene in Finnish and Swedish type 2 diabetic patients was done. Two novel SNPs, g.9863G>A (G54D) in exon 3 and g.12712C>G in the 3'-UTR of exon 5 of the ADCYAP1 gene (accession number X60435), were found. PCR-RFLP genotyping was then performed in a total of 253 type 2 diabetic patients and 253 non-diabetic control subjects. Transmission disequilibrium test (TDT) was performed in 132 parent-offspring trios. The G allele frequencies of g.9863G>A (G54D) and g.12712C>G of the ADCYAP1 gene were higher in type 2 diabetic patients than in non-diabetic control subjects (21.0% vs 15.8%, P=0.04; 5.3% vs 3.0%, P=0.045). However, no significant differences in clinical variables was seen between the different genotype carriers, and also no transmission distortion of the G allele of SNP g.9863G>A (G54D) was observed in 132 parent-offspring trios. The present study thus suggest that the variants in the ADCYAP1 gene may not be major influence of the susceptibility to type 2 diabetes in Finnish and Swedish Caucasians.