Alcolado J C, Baroni M G
Department of Diabetes, St Bartholomew's Hospital, London, UK.
Diabet Med. 1992 Jan-Feb;9(1):58-60. doi: 10.1111/j.1464-5491.1992.tb01715.x.
Inherited abnormalities of the glucose transporters could explain many of the pathophysiological features of Type 2 diabetes including the strong familial predisposition to the disease. Previous studies have suggested a possible association between an allele of an Xba1 restriction fragment length polymorphism (RFLP) at the GLUT1 gene locus and Type 2 diabetes in Caucasian and Japanese subjects. In order to test this hypothesis further, population association studies were performed at the Xba1/GLUT1 and Kpn1/GLUT4 gene loci employing a group of diabetic patients with a strong family history for the disease. The frequencies of the two alleles at the GLUT1 locus were 0.28 and 0.72 in diabetic patients and 0.31 and 0.69 in control subjects. At the GLUT4 locus, the two alleles had frequencies of 0.24 and 0.76 in diabetic patients and 0.25 and 0.75 in control subjects. These differences were not statistically significant. The present study does not support the hypothesis that genetic variation within the GLUT1 or GLUT4 gene loci may be responsible for familial susceptibility to Type 2 diabetes.
葡萄糖转运蛋白的遗传性异常可以解释2型糖尿病的许多病理生理特征，包括该病强烈的家族易感性。先前的研究表明，在白种人和日本受试者中，GLUT1基因座处Xba1限制性片段长度多态性（RFLP）的一个等位基因与2型糖尿病之间可能存在关联。为了进一步验证这一假设，我们对一组有该病家族病史的糖尿病患者在Xba1/GLUT1和Kpn1/GLUT4基因座进行了群体关联研究。GLUT1基因座的两个等位基因在糖尿病患者中的频率分别为0.28和0.72，在对照受试者中为0.31和0.69。在GLUT4基因座，两个等位基因在糖尿病患者中的频率分别为0.24和0.76，在对照受试者中为0.25和0.75。这些差异无统计学意义。本研究不支持GLUT1或GLUT4基因座内的遗传变异可能是2型糖尿病家族易感性原因的假设。
