Hara K, Horikoshi M, Kitazato H, Yamauchi T, Ito C, Noda M, Ohashi J, Froguel P, Tokunaga K, Nagai R, Kadowaki T
Department of Metabolic Diseases, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
Diabetologia. 2005 Jul;48(7):1307-14. doi: 10.1007/s00125-005-1806-3. Epub 2005 May 26.
AIMS/HYPOTHESIS: Secreted by adipocytes, adiponectin is a hormone that acts as an antidiabetic and anti-atherogenic adipokine. We recently cloned the genes encoding two adiponectin receptors (ADIPOR1 and ADIPOR2). The aim of this study was to examine whether ADIPOR1 and/or ADIPOR2 play a major role in genetic susceptibility to insulin resistance or type 2 diabetes in the Japanese population.
By direct sequencing and a search of public databases, we identified single nucleotide polymorphisms (SNPs) in ADIPOR1 and ADIPOR2, and investigated whether these SNPs are associated with insulin resistance and type 2 diabetes in the Japanese population.
The linkage disequilibrium (LD) in the chromosomal region of ADIPOR1 was almost completely preserved, whereas the LD in ADIPOR2 was less well preserved. None of the SNPs in ADIPOR1 or ADIPOR2 were significantly associated with insulin resistance or type 2 diabetes. No differences in ADIPOR1 or ADIPOR2 haplotype frequencies were observed between type 2 diabetic and non-diabetic subjects.
CONCLUSIONS/INTERPRETATION: Genetic variations in ADIPOR1 or ADIPOR2 are unlikely to lead to a common genetic predisposition to insulin resistance or type 2 diabetes in the Japanese population.
目的/假设：脂联素由脂肪细胞分泌，是一种具有抗糖尿病和抗动脉粥样硬化作用的脂肪因子。我们最近克隆了编码两种脂联素受体（ADIPOR1和ADIPOR2）的基因。本研究的目的是探讨ADIPOR1和/或ADIPOR2在日本人群胰岛素抵抗或2型糖尿病的遗传易感性中是否起主要作用。
通过直接测序和检索公共数据库，我们鉴定了ADIPOR1和ADIPOR2中的单核苷酸多态性（SNP），并研究这些SNP是否与日本人群的胰岛素抵抗和2型糖尿病相关。
ADIPOR1染色体区域的连锁不平衡（LD）几乎完全保留，而ADIPOR2中的LD保留较差。ADIPOR1或ADIPOR2中的SNP均与胰岛素抵抗或2型糖尿病无显著相关性。2型糖尿病患者和非糖尿病患者之间未观察到ADIPOR1或ADIPOR2单倍型频率的差异。
结论/解读：在日本人群中，ADIPOR1或ADIPOR2的基因变异不太可能导致胰岛素抵抗或2型糖尿病的常见遗传易感性。
