Shimokawa K, Kadowaki H, Sakura H, Otabe S, Hagura R, Kosaka K, Yazaki Y, Akanuma Y, Kadowaki T
Institute for Diabetes Care and Research, Asahi Life Foundation, Tokyo, Japan.
Biochem Biophys Res Commun. 1994 Jul 15;202(1):463-9. doi: 10.1006/bbrc.1994.1951.
We studied a simple tandem repeat DNA polymorphism in the glycogen synthase gene and polymorphisms at codon 513 (Ala-->Pro) and 972 (Gly-->Arg) in the insulin receptor substrate-1 (IRS-1) gene in 197 non-insulin-dependent diabetes mellitus (NIDDM) and 178 control subjects in Japan. Eight alleles (-3G, -2G, -1G, 0G, 1G, 2G, 3G, and 4G) were identified in the tandem repeat polymorphism in the glycogen synthase gene. No difference in the frequencies of these alleles was found between diabetics and controls. The codon 972 polymorphism of IRS-1 gene was observed in 7 diabetics (3.6%) and 8 controls (4.5%), whereas the codon 513 polymorphism was not found in either of the two groups. We conclude that the tandem repeat polymorphism in the glycogen synthase gene and the polymorphisms at codons 513 and 972 of the IRS-1 gene are not associated with a higher risk for the development of NIDDM in Japanese subjects.
我们对197例非胰岛素依赖型糖尿病（NIDDM）患者和178例日本对照者进行了研究，分析糖原合酶基因中的一种简单串联重复DNA多态性以及胰岛素受体底物-1（IRS-1）基因第513密码子（丙氨酸→脯氨酸）和第972密码子（甘氨酸→精氨酸）的多态性。在糖原合酶基因的串联重复多态性中鉴定出8个等位基因（-3G、-2G、-1G、0G、1G、2G、3G和4G）。糖尿病患者和对照者之间这些等位基因的频率没有差异。IRS-1基因第972密码子多态性在7例糖尿病患者（3.6%）和8例对照者（4.5%）中观察到，而两组中均未发现第513密码子多态性。我们得出结论，糖原合酶基因中的串联重复多态性以及IRS-1基因第513和972密码子的多态性与日本人群发生NIDDM的较高风险无关。
