Department of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupoli 68 100, Greece.
Cytokine. 2010 Jul;51(1):25-7. doi: 10.1016/j.cyto.2010.04.006. Epub 2010 May 6.
Visfatin (NAMPT formerly known as PBEF1) is an adipokine that is strongly expressed in visceral fat and has caused much debate among researchers, regarding its involvement in glucose homeostasis and insulin resistance. It was initially isolated from bone marrow cells, and its involvement in inflammatory procedures such as sepsis and acute lung inflammation is now evident. Several studies have also reported an association of plasma visfatin levels with obesity. We undertook an evaluation of the involvement of the NAMPT gene in the development of type 2 diabetes (T2DM) in the Greek population. We studied 178 patients with T2DM and 177 controls that were matched for sex, age and body mass index. We genotyped three tagging SNPs selected from the HapMap II CEPH European population as reference for the Greek population. These three SNPs tag another 12 SNPs over the entire NAMPT gene with a mean r(2) of 0.92. No indications of association with disease status were found with any of the tested variants or the inferred haplotypes. Results were also negative when the quantitative traits of weight and BMI were tested. Although our study covers common variants across the NAMPT gene, the possible involvement of rare variants in T2DM etiology cannot be ruled out and will require the investigation of very large numbers of cases and controls.
内脏脂肪素（NAMPT 以前称为 PBEF1）是一种脂肪因子，在内脏脂肪中表达强烈，其在葡萄糖稳态和胰岛素抵抗中的作用引起了研究人员的广泛争论。它最初是从骨髓细胞中分离出来的，其在炎症过程中的作用，如败血症和急性肺炎症，现在已经很明显。一些研究还报告了血浆内脏脂肪素水平与肥胖之间的关联。我们评估了 NAMPT 基因在希腊人群 2 型糖尿病（T2DM）发病机制中的作用。我们研究了 178 例 T2DM 患者和 177 例性别、年龄和体重指数匹配的对照组。我们对从 HapMap II CEPH 欧洲人群中选择的三个标记 SNP 进行了基因分型，作为希腊人群的参考。这三个 SNP 标记了整个 NAMPT 基因中的另外 12 个 SNP，平均 r(2)为 0.92。在测试的任何变体或推断的单倍型中，都没有发现与疾病状态相关的迹象。当测试体重和 BMI 的定量特征时，结果也是阴性的。尽管我们的研究涵盖了 NAMPT 基因中的常见变体，但不能排除罕见变体在 T2DM 病因学中的可能作用，这需要对大量病例和对照进行调查。
