Common polymorphisms in the promoter of the visfatin gene (PBEF1) influence plasma insulin levels in a French-Canadian population
Common polymorphisms in the promoter of the visfatin gene (PBEF1) influence plasma insulin levels in a French-Canadian population
复制标题
DOI：
10.2337/db06-0189
复制
发表时间：
2006-10-01
期刊：
影响因子：
7.7
通讯作者：
Engert, James C.
中科院分区：
文献类型：
--
作者：
Bailey, Swneke D.;Loredo-Osti, J. C.;Engert, James C.
脂肪因子visfatin （PBEF1）具有胰岛素模拟作用，与内脏肥胖密切相关。我们对23个个体的visfatin基因外显子和1480个启动子唇进行了测序，其中包括来自魁北克家族研究（QFS）的具有不同程度腹部内脏脂肪的IS个体，通过计算机断层扫描进行评估，以及来自魁北克Saguenay-Lac-Saint-Jean地区的5个个体。我们在第7外显子（SER301SER）上发现了同义多态性，但没有非同义突变。我们观察到另外10个多态性，包括5个内含子，4个在启动子内，1个在3'非翻译区。进一步的启动子测序（816 bp）在QFS群体中发现了另外5个单核苷酸多态性（snp）。为了研究visfatin基因变异在肥胖相关表型中的作用，我们对该基因启动子区域的13个snp进行了基因分型。由此，我们分析了QFS样本（来自208个家庭的918名参与者）中的7个常见snp。两个snp （rs9770242和rs1319501）处于完全连锁不平衡状态，与空腹胰岛素水平存在显著相关性（P = 0.002）。这些snp也与空腹血糖(P
The adipokine visfatin (PBEF1) exhibits insulin-mimetic effects and correlates strongly with visceral adiposity. We sequenced visfatin gene exons and 1,480 lip of the promoter in 23 individuals, including IS individuals from the Quebec Family Study (QFS) with varying degrees of abdominal visceral fat, assessed by computed tomography, and 5 individuals from the Saguenay-Lac-Saint-Jean region of Quebec. We identified a synonymous polymorphism in exon 7 (SER301SER) but no nonsynonymous mutations. We observed an additional 10 polymorphisms, including 5 intronic, 4 within the promoter, and 1 within the 3' untranslated region. Further promoter sequencing (816 bp) identified five additional single nucleotide polymorphisms (SNPs) in the QFS population. To investigate the role of visfatin gene variants in obesity-related phenotypes, we genotyped a total of 13 SNPs in the promoter region of the gene. From these, we analyzed the seven common SNPs in the QFS sample (918 participants from 208 families). A significant association was found between two SNPs (rs9770242 and rs1319501), in perfect linkage disequilibrium, and fasting insulin levels (P = 0.002). These SNPs were also associated with fasting glucose (P