Research Unit of Biology and Genetics of Cancer and Haematological and Autoimmune diseases, Faculty of Pharmacy of Monastir, University of Monastir, Monastir, Tunisia.
Diabetes Res Clin Pract. 2012 Aug;97(2):290-7. doi: 10.1016/j.diabres.2012.02.015. Epub 2012 Apr 11.
Adiponectin is an adipocyte-produced protein involved in regulating glucose, lipid, and energy metabolism, and is encoded by ADIPOQ (APM1) gene. ADIPOQ polymorphisms were previously associated with type 2 diabetes (T2DM) in Caucasian and non-Caucasian populations. We investigated the contribution of 13 polymorphisms in the promoter, coding regions, and 3'untranslated region of ADIPOQ gene to T2DM in 917 patients and 748 normoglycemic control subjects. ADIPOQ genotyping was done by allelic discrimination method. Of the 13 ADIPOQ variants analyzed, higher minor allele frequency of rs16861194 (P<0.001), rs17300539 (P<0.001), rs266729 (P<0.001), rs822396 (P=0.02), rs2241767 (P=0.03), and rs1063538 (P=0.02) were seen in T2DM cases. Varied association of ADIPOQ genotypes with T2DM was seen according to the genetic model used: rs17300539 and rs266729 were significantly associated with T2DM under the three models, while rs16861194 was association with T2DM under additive and dominant models, and rs822396, rs2241766, and rs1063538 were associated with T2DM under the dominant models only. Haploview analysis revealed low linkage disequilibrium between the ADIPOQ variants, resulting in high haplotype diversity, and two blocks were identified, each differentially associated with T2DM. These results support a significant association of ADIPOQ gene polymorphism with T2DM in Tunisian Arabs.
脂联素是一种脂肪细胞产生的蛋白，参与调节葡萄糖、脂质和能量代谢，由 ADIPOQ（APM1）基因编码。ADIPOQ 多态性先前与白种人和非白种人群的 2 型糖尿病（T2DM）有关。我们研究了 ADIPOQ 基因启动子、编码区和 3'非翻译区的 13 个多态性与 917 例 T2DM 患者和 748 例血糖正常对照者 T2DM 的关系。ADIPOQ 基因分型采用等位基因鉴别法。在分析的 13 种 ADIPOQ 变体中，rs16861194（P<0.001）、rs17300539（P<0.001）、rs266729（P<0.001）、rs822396（P=0.02）、rs2241767（P=0.03）和 rs1063538（P=0.02）的次要等位基因频率在 T2DM 病例中较高。根据所用遗传模型，ADIPOQ 基因型与 T2DM 的相关性存在差异：rs17300539 和 rs266729 在三种模型下均与 T2DM 显著相关，而 rs16861194 在加性和显性模型下与 T2DM 相关，而 rs822396、rs2241766 和 rs1063538 仅在显性模型下与 T2DM 相关。Haploview 分析显示 ADIPOQ 变体之间的低连锁不平衡，导致高单倍型多样性，并确定了两个块，每个块与 T2DM 不同相关。这些结果支持 ADIPOQ 基因多态性与突尼斯阿拉伯人 T2DM 之间存在显著关联。
