Science：特殊基因变异可导致高血糖
一个国际科学家小组发现，一种名为G6PC2的基因发生变异会导致人的血糖水平升高。这一发现将有助于开发治疗高血糖的新方法。
来自英国、法国和加拿大的科学家在美国《科学》（Science）杂志上报告说，他们选取约650名中年人进行了9年的跟踪研究，这些人平时身体健康，没有糖尿病病史。研究结果发现，G6PC2基因变异后会扰乱人体内负责调控血糖水平的葡萄糖激酶的活动，从而使得血糖水平“失控”，升高至“危险水平”。
正常情况下，葡萄糖激酶像“监视器”一样严密监控血糖水平。它能够向体内的贝塔细胞发送信号，贝塔细胞然后会分泌胰岛素，调控体内血糖水平始终处于正常范围内。一旦葡萄糖激酶“瘫痪”，人的血糖水平就会升高，罹患冠状动脉硬化等疾病的风险也会增加。
科学家说，G6PC2基因变异大概能使血糖水平升高约5%。这一比例看似不大，但足以对人体健康构成威胁。
此前的一些研究认为，肥胖和缺乏锻炼等因素，都可能导致人的血糖水平升高。针对高血糖者，医生一般建议他们降低体重或多进行锻炼。专家指出，新研究找到了高血糖的基因根源，解释了在体重和锻炼等因素相当的情况下，为什么有些人的血糖水平会高于其他人，它将有助于开发新的治疗方法，从根本上降低人患高血糖相关疾病的风险。（来源：新华网）
生物谷推荐原始出处：
（Science），DOI: 10.1126/science.1156849，Nabila Bouatia-Naji，Philippe Froguel
A Polymorphism Within the G6PC2 Gene Is Associated with Fasting Plasma Glucose Levels
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1 CNRS UMR 8090 Institute of Biology, Pasteur Institute of Lille and Lille 2 Droit et Santé University, Lille, France.
2 Department of Human Genetics, Faculty of Medicine, McGill University and Génome Québec Innovation Centre, Montreal H3A 1A4, Canada.
3 Gene Expression Unit, Dept. Molecular Cell Biology, Katholieke Universiteit, Leuven, Belgium.
4 Department of Obstetrics and Gynaecology, Oulu, Finland.
5 Department of Epidemiology and Public Health, Imperial College, London W12 0NN, United Kingdom.
6 IRSA, La Riche, France.
7 INSERM U695, Bichat Hospital, Paris, France.
8 INSERM U780-IFR69, «Paris Sud» University, Villejuif, France.
9 Pediatric Endocrine Unit, Jeanne de Flandre Hospital, Lille, France.
10 Department of Epidemiology and Public Health, Imperial College, London W12 0NN, United Kingdom.; Department of Public Health and General Practice, University of Oulu, Finland.
11 Department of Human Genetics, Faculty of Medicine, McGill University and Génome Québec Innovation Centre, Montreal H3A 1A4, Canada.; Department of Pediatrics, Faculty of Medicine, McGill University, Montreal H3H 1P3, Canada.
12 CNRS UMR 8090 Institute of Biology, Pasteur Institute of Lille and Lille 2 Droit et Santé University, Lille, France.; Genomic Medicine, Hammersmith Hospital, Imperial College London, United Kingdom.
Several studies have shown that healthy individuals with fasting plasma glucose (FPG) levels at the high end of the normal range have a higher risk of mortality. To identify genetic determinants that contribute to inter-individual variation in FPG, we tested 392,935 single nucleotide polymorphisms (SNPs) in 654 normoglycemic subjects for association with FPG and we replicated the most strongly associated SNP (rs560887, p = 4 x 10-7) in 9,353 subjects. SNP rs560887 maps to intron 3 of the G6PC2 gene, which encodes glucose-6-phosphatase catalytic subunit-related protein (also known as IGRP), a protein selectively expressed in pancreatic islets. This SNP was associated with FPG (These authors contributed equally to this work. 
= -0.06 mmol/l per A-allele, combined p = 4 x 10-23) and with pancreatic beta-cell function (Homa-B model, combined p = 3 x 10-13) in three populations; however it was not associated with type 2 diabetes risk. We speculate that G6PC2/IGRP regulates FPG by modulating the set-point for glucose-stimulated insulin secretion in pancreatic beta cells.
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