Mutation of the glucagon receptor gene and diabetes mellitus in the UK: association or founder effect?
Mutation of the glucagon receptor gene and diabetes mellitus in the UK: association or founder effect?
复制标题
英国胰高血糖素受体基因突变与糖尿病：关联效应还是创始人效应？
DOI：
10.1093/hmg/4.9.1609
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发表时间：
1995
影响因子：
3.5
通讯作者：
R. Turner
中科院分区：
文献类型：
--
作者：
S. Gough;P. Saker;L. E. Pritchard;T. Merriman;M. Merriman;B. Rowe;S. Kumar;T. Aitman;A. Barnett;R. Turner
最近的证据表明，胰高血糖素受体(GCG-R)基因突变与法国患者2型糖尿病的发生有关。我们对来自英国三个不同地理区域的患者进行了检查，发现GGT40(Gly)到AGT40(Ser)突变存在于15/691(2.2%)的2型(非胰岛素依赖型)糖尿病患者和1/425(0.2%)地理匹配的对照组中，因此重复了GCG-R突变与经典2型糖尿病的关联(费舍尔精确检验p=0.008)。GCG-R基因突变频率在1型(胰岛素依赖型)糖尿病多发(受影响同胞对)家系的先证者中也有增加，(10/404，2.5%)。然而，缺乏突变杂合子父母对受影响的1型糖尿病同胞的优先传递可能表明人群分层。这反过来又不能被排除为2型糖尿病患者和正常对照组之间GCG-R基因突变频率差异的另一种解释。
Recent evidence suggests that a mutation of the glucagon receptor (GCG-R) gene is involved in the development of type 2 diabetes in French patients. We have examined patients from three geographically distinct regions in the UK and found the GGT40 (Gly) to AGT40 (Ser) mutation to be present in 15/691 (2.2%) of patients with type 2 (non-insulin dependent) diabetes and 1/425 (0.2%) of geographically matched controls and have therefore replicated association of the GCG-R mutation with classical type 2 diabetes (Fisher's exact test p = 0.008). An increased frequency of the mutation of the GCG-R gene was also found in probands of type 1 (insulin dependent) diabetic multiplex (affected sib pair) families, (10/404, 2.5%). However, a lack of preferential transmission from parents heterozygous for the mutation, to affected type 1 diabetic sibs may suggest population stratification. This in turn cannot be excluded as an alternative explanation for the difference in frequency of the GCG-R gene mutation between subjects with type 2 diabetes and normal controls.