Chuang L M, Lai C S, Yeh J I, Wu H P, Tai T Y, Lin B J
Department of Internal Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
Diabetes Care. 1996 May;19(5):446-9. doi: 10.2337/diacare.19.5.446.
To study the role of the Gly971Arg variant of the insulin receptor substrate 1 (IRS-1) gene in the development of NIDDM in the Chinese population living in Taiwan.
A total of 82 unrelated normal control subjects, 89 subjects with NIDDM, and 23 multiplex families were recruited in Taiwan. All of them were Han Chinese. Pedigree members without a history of diabetes were studies by the standard 75-g oral glucose tolerance test. Detection of the Gly971Arg variant of the IRS-1 gene was performed by polymerase chain reaction and restriction fragment-length polymorphism analysis.
The frequency of Gly971Arg variant of the IRS-1 gene in the normal population was 1.2% which was lower than frequencies reported in white populations. The prevalence of the Gly971Arg variant was not significantly increased in both the nonselected NIDDM population (1.1%) and the probands of the multiplex families (4.3%). More importantly, the Gly971Arg variant of the IRS-1 gene did not cosegregate with BMI and NIDDM in these families,
The Gly971Arg variant of the IRS-1 gene is an infrequent normal allele among Taiwanese. This variant is neither associated nor cosegregated with NIDDM in the Taiwanese population and families. Gly971Arg of IRS-1 gene does not play an important role in the development of NIDDM in this population.
研究胰岛素受体底物1（IRS-1）基因的Gly971Arg变异在居住于台湾的中国人群2型糖尿病发生中的作用。
在台湾招募了82名无亲缘关系的正常对照者、89名2型糖尿病患者以及23个多人患病的家系。他们均为汉族。对无糖尿病病史的家系成员进行标准的75克口服葡萄糖耐量试验。采用聚合酶链反应和限制性片段长度多态性分析检测IRS-1基因的Gly971Arg变异。
IRS-1基因的Gly971Arg变异在正常人群中的频率为1.2%，低于白人人群报道的频率。在未选择的2型糖尿病患者人群（1.1%）和多人患病家系的先证者（4.3%）中，Gly971Arg变异的患病率均未显著增加。更重要的是，在这些家系中，IRS-1基因的Gly971Arg变异与体重指数和2型糖尿病不共分离。
IRS-1基因的Gly971Arg变异在台湾人群中是一种罕见的正常等位基因。该变异在台湾人群及其家系中与2型糖尿病既无关联也不共分离。IRS-1基因的Gly971Arg在该人群2型糖尿病的发生中不发挥重要作用。
