Meirhaeghe Aline, Cottel Dominique, Amouyel Philippe
INSERM, U744, Lille, France.
BMC Med Genet. 2006 Mar 16;7:26. doi: 10.1186/1471-2350-7-26.
Factors governing adipose tissue differentiation play a major role in obesity development in humans. The Krüppel-like zinc finger transcription factor KLF2/Lung KLF (LKLF) is a negative regulator of adipocyte differentiation. In this study, we sequenced the human KLF2 gene and several common polymorphisms were found, among them the Pro104Leu and 3'UTR 1239C>A polymorphisms.
To evaluate the impact of these polymorphisms on anthropometric variables in humans, we genotyped a general population composed of 1155 French individuals (including 232 obese subjects) for these polymorphisms and looked for potential statistical associations with obesity-related variables.
The frequency of the Leu104 and 1239A alleles were 0.22 and 0.18 respectively. Genotype and allele frequencies of the two polymorphisms were comparable in obese, overweight and normal weight subjects. No association between the rare alleles of the polymorphisms and anthropometric variables (BMI, weight, waist and hip circumferences, waist-to-hip ratio and plasma leptin levels) could be detected. Haplotype analyses did not reveal further significant associations.
These data indicate that the Pro104Leu and 3'UTR 1239C>A polymorphisms in KLF2 are not associated with obesity and obesity-related traits in humans.
调控脂肪组织分化的因素在人类肥胖症发展中起主要作用。类Krüppel锌指转录因子KLF2/肺KLF(LKLF)是脂肪细胞分化的负调节因子。在本研究中,我们对人类KLF2基因进行了测序,发现了几种常见的多态性,其中包括Pro104Leu和3'非翻译区1239C>A多态性。
为了评估这些多态性对人类人体测量变量的影响,我们对由1155名法国个体(包括232名肥胖受试者)组成的一般人群进行了这些多态性的基因分型,并寻找与肥胖相关变量的潜在统计学关联。
Leu104和1239A等位基因的频率分别为0.22和0.18。两种多态性的基因型和等位基因频率在肥胖、超重和正常体重受试者中具有可比性。未检测到多态性的罕见等位基因与人体测量变量(BMI、体重、腰围和臀围、腰臀比和血浆瘦素水平)之间存在关联。单倍型分析未发现进一步的显著关联。
这些数据表明,KLF2基因中的Pro104Leu和3'非翻译区1239C>A多态性与人类肥胖症及肥胖相关特征无关。