Körner Antje, Böttcher Yvonne, Enigk Beate, Kiess Wieland, Stumvoll Michael, Kovacs Peter
University Hospital for Children and Adolescents, University of Leipzig, D-04103 Leipzig, Germany.
Metabolism. 2007 Jun;56(6):772-7. doi: 10.1016/j.metabol.2007.01.009.
Visfatin is a peptide predominantly expressed in visceral adipose tissue and was hypothesized to be related to obesity and insulin resistance. In the present study, we investigated the effects of genetic variations in the visfatin gene (pre-B-cell colony-enhancing factor 1 [PBEF1]) on obesity, metabolic parameters, and blood pressure (BP) in 2 children cohorts. We genotyped 3 representative single nucleotide polymorphisms (rs9770242, -948G>T, rs4730153) in 731 schoolchildren and in an independent cohort of 167 obese children. There was no association of any of the 3 polymorphisms or their haplotypes with body mass index (BMI), waist-to-hip ratio, or parameters of glucose, insulin, or lipid metabolism in either cohort. However, the -948G variant was associated with significantly higher diastolic BP in obese children (P < .05 after adjusting for age, sex, pubertal stage, and height). Haplotype analyses confirmed the [T-G-A] haplotype to be significantly related to increased diastolic BP in both schoolchildren and obese children. In conclusion, genetic variants in PBEF1 may be associated with increased BP in children but are not likely to contribute significantly to the variation in body mass index and glucose, insulin, or lipid metabolism.
内脂素是一种主要在内脏脂肪组织中表达的肽，据推测它与肥胖和胰岛素抵抗有关。在本研究中，我们调查了内脂素基因（前B细胞集落增强因子1 [PBEF1]）的基因变异对两个儿童队列中肥胖、代谢参数和血压（BP）的影响。我们对731名学童和167名肥胖儿童的独立队列中的3个代表性单核苷酸多态性（rs9770242、-948G>T、rs4730153）进行了基因分型。在这两个队列中，这3个多态性中的任何一个或其单倍型与体重指数（BMI）、腰臀比或葡萄糖、胰岛素或脂质代谢参数均无关联。然而，-948G变异与肥胖儿童的舒张压显著升高相关（在调整年龄、性别、青春期阶段和身高后，P < .05）。单倍型分析证实，[T-G-A]单倍型与学童和肥胖儿童舒张压升高均显著相关。总之，PBEF1中的基因变异可能与儿童血压升高有关，但不太可能对体重指数以及葡萄糖、胰岛素或脂质代谢的变异有显著影响。
