在中国人群中，G6PC2的一种基因变异与2型糖尿病及空腹血糖水平相关。
A genetic variant of G6PC2 is associated with type 2 diabetes and fasting plasma glucose level in the Chinese population.
作者信息
Hu C, Zhang R, Wang C, Ma X, Wang C, Fang Q, Bao Y, Xiang K, Jia W
机构信息
Department of Endocrinology and Metabolism, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yishan Road, Shanghai, 200233, People's Republic of China.
出版信息
Diabetologia. 2009 Mar;52(3):451-6. doi: 10.1007/s00125-008-1241-3. Epub 2008 Dec 13.
AIMS/HYPOTHESIS: Single nucleotide polymorphisms (SNPs) in G6PC2 have been reported to be associated with fasting plasma glucose level in several populations of European descent. However, whether G6PC2 variants have a similar effect in other ethnic groups is unknown. The aim of this study was to investigate the effect of common variants of G6PC2 on type 2 diabetes and related clinical features in a Chinese population.
METHODS
We selected four SNPs, rs13387347, rs2232316, rs492594 and rs16856187, tagging all the common variants spanning the G6PC2 gene (r(2) >or= 0.8) based on HapMap Chinese data, and genotyped them in a group of 3,676 Shanghai Chinese individuals, comprising 1,876 cases and 1,800 controls.
RESULTS
Three SNPs were nominally associated with type 2 diabetes, with rs16856187 showing the strongest evidence for association (p = 0.0009, empirical p = 0.0047). Further conditional analysis revealed that the association signal arose from an individual SNP, rs16856187. This SNP was also associated with fasting plasma glucose level in participants with normal glucose regulation (p = 0.0002), with the fasting plasma glucose level observed to increase by 0.067 mmol/l with each copy of the rare C allele.
CONCLUSIONS/INTERPRETATION: In this study we identified a novel risk-conferring G6PC2 SNP for type 2 diabetes in a Chinese population and confirmed the previous finding that G6PC2 variants are associated with fasting plasma glucose concentration.
目的/假设：据报道，葡萄糖-6-磷酸酶催化亚基2（G6PC2）中的单核苷酸多态性（SNP）与多个欧洲血统人群的空腹血糖水平相关。然而，G6PC2变异体在其他种族群体中是否具有类似作用尚不清楚。本研究的目的是调查G6PC2常见变异体对中国人群2型糖尿病及相关临床特征的影响。
方法
我们根据HapMap中国人群数据，选择了4个SNP（rs13387347、rs2232316、rs492594和rs16856187），这些SNP标记了G6PC2基因上所有常见变异体（r²≥0.8），并在3676名上海中国人中对其进行基因分型，其中包括1876例病例和1800名对照。
结果
3个SNP与2型糖尿病存在名义上的关联，其中rs16856187显示出最强的关联证据（p = 0.0009，经验性p = 0.0047）。进一步的条件分析表明，关联信号源于单个SNP，即rs16856187。该SNP在葡萄糖调节正常的参与者中也与空腹血糖水平相关（p = 0.0002），每携带一份罕见的C等位基因，空腹血糖水平升高0.067 mmol/L。
结论/解读：在本研究中，我们在中国人群中鉴定出一种新的G6PC2 SNP，它是2型糖尿病的风险因素，并证实了之前关于G6PC2变异体与空腹血糖浓度相关的发现。
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