Role of genetic variation in the human sodium-glucose cotransporter 2 gene (SGLT2) in glucose homeostasis
Role of genetic variation in the human sodium-glucose cotransporter 2 gene (SGLT2) in glucose homeostasis
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DOI：
10.2217/pgs.11.69
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发表时间：
2011-08-01
期刊：
影响因子：
2.1
通讯作者：
Toenjes, Anke
中科院分区：
文献类型：
--
作者：
Enigk, Uta;Breitfeld, Jana;Toenjes, Anke
目的：钠-葡萄糖协同转运蛋白2（SGLT 2）突变以及SGLT 2抑制剂治疗可导致空腹血糖水平、HbA（1c）和BMI降低。因此，我们研究了SGLT 2常见遗传变异对人类2型糖尿病及其相关性状的影响。材料和方法：在1013名索布人（德国）中，对覆盖SGLT 2中常见遗传变异的4个HapMap标记SNP（r（2）>0.8和次要等位基因频率>0.01）进行基因分型，用于随后的BMI、2型糖尿病和相关代谢性状的关联研究。采用来自柏林的独立队列（n=2042）进行重复研究。结果如下：rs 9934336 G等位基因与口服葡萄糖耐量试验期间907名非糖尿病Sorbs人的30分钟血糖、120分钟胰岛素浓度和AUC 120分钟（葡萄糖）增加名义上相关（p
Aims: Mutations in the sodium-glucose cotransporter 2 (SGLT2), as well as treatment with SGLT2 inhibitors result in reduced fasting glucose levels, HbA(1c) and BMI. We therefore investigated the effects of common genetic variation in SGLT2 on human Type 2 diabetes and related traits. Materials & methods: Four HapMap tagging SNPs covering the common genetic variation in SGLT2 (r(2)>0.8 and minor allele frequency >0.01) were genotyped for subsequent association studies on BMI, Type 2 diabetes and related metabolic traits in 1013 Sorbs (Germany). An independent cohort from Berlin (n=2042) was taken for replication. Results: The rs9934336 G-allele was nominally associated with increased 30-min plasma glucose, 120-min insulin concentrations and AUC120min(glucose) during oral glucose tolerance test in 907 nondiabetic Sorbs (p