Choi Jee-Hye, Min Na Young, Park Sang Kil, Gavaachimed Lkhagvasuren, Ko Young Jong, Han Sung Hoon, Kim Kyung Yong, Kim Kijung, Lee Kwang Ho, Park Ae Ja
Department of Laboratory Medicine, College of Medicine, Chung-Ang University, Dongjak-gu, Seoul 156-756, South Korea.
Department of Life Science, College of Natural Science, Chung-Ang University, Dongjak-gu, Seoul 156-756, South Korea.
Mol Med Rep. 2014 Dec;10(6):2993-3002. doi: 10.3892/mmr.2014.2639. Epub 2014 Oct 14.
The present study was performed to identify the susceptible single nucleotide polymorphisms (SNPs) for the prediction of Korean type 2 diabetes mellitus (T2DM) and to clarify the matrilineal origin of Korean T2DM‑specific SNPs. Fourteen SNPs from the adiponectin (ADIPOQ), hepatocyte nuclear factor 4α, phosphoenolpyruvate carboxykinase 1 and glucokinase genes in the Korean population were analyzed. Only one SNP, ‑11,377 C/G on the ADIPOQ gene, was finally determined to be responsible for the incidence of Korean T2DM (P=0.028). The G‑T‑T‑A haplotype at positions ‑11,377, +45, +276 and +349 on the ADIPOQ gene was also associated with a high incidence of Korean T2DM (P=0.023). In addition, the susceptibility of Korean individuals to T2DM appears to be affected by their matrilineal origin. Of note, the group of Southern origin, consisting of mitochondrial DNA macrohaplogroups F and R, was predisposed to T2DM, whereas the group of Northern origin, consisting of haplogroups A and Y, was resistant to T2DM. This implied that the differential genetics between the two groups, which were formed from the initial peopling of the proto‑Korean population via Southern and Northern routes to the present time, may explain their differing susceptibility to T2DM. In conclusion, from Southern Asia Northward, a matrilineal origin of Korean individuals appears to be responsible for the prevalence of Korean T2DM caused by the ‑11,377 G allele.
本研究旨在鉴定可用于预测韩国2型糖尿病（T2DM）的易感单核苷酸多态性（SNP），并阐明韩国T2DM特异性SNP的母系起源。分析了韩国人群中脂联素（ADIPOQ）、肝细胞核因子4α、磷酸烯醇式丙酮酸羧激酶1和葡萄糖激酶基因的14个SNP。最终确定只有ADIPOQ基因上的一个SNP，即-11,377 C/G，与韩国T2DM的发病有关（P=0.028）。ADIPOQ基因上-11,377、+45、+276和+349位点的G-T-T-A单倍型也与韩国T2DM的高发病率相关（P=0.023）。此外，韩国个体对T2DM的易感性似乎受其母系起源的影响。值得注意的是，由线粒体DNA宏单倍群F和R组成的南方起源组易患T2DM，而由单倍群A和Y组成的北方起源组对T2DM具有抗性。这意味着从原始韩国人群最初经南方和北方路线迁徙至今所形成的两组人群之间的遗传差异，可能解释了他们对T2DM易感性的不同。总之，从南亚向北，韩国个体的母系起源似乎是由-11,377 G等位基因导致的韩国T2DM流行的原因。
