Shima Y, Tsukada T, Nakanishi K, Ohta H
Laboratory of Biochemistry, Kyorin University School of Health Sciences, Hachioji, Tokyo, Japan.
Clin Chim Acta. 1998 Jun 22;274(2):167-76. doi: 10.1016/s0009-8981(98)00059-x.
The prevalence of a mutation of the codon for tryptophan 64 to arginine (Trp64Arg) in the beta3-adrenergic receptor gene was investigated by genotyping 261 Japanese subjects. The allelic frequency of this mutation was 0.18. Subjects with the homozygous W64R mutant alleles had a significantly higher prevalence of fatty liver, BMI, serum gamma-glutamyl transpeptidase, and serum leucine amino transpeptidase levels than those without the mutation. Individuals with this mutation also showed a higher fasting blood glucose level than those without this mutation. However, the prevalence of diabetes mellitus was no different between the three groups. These results suggest a potential association of the Trp64Arg mutation with higher morbidity of fatty liver and mild glucose intolerance.
通过对261名日本受试者进行基因分型，研究了β3-肾上腺素能受体基因中色氨酸64密码子突变为精氨酸（Trp64Arg）的发生率。该突变的等位基因频率为0.18。纯合W64R突变等位基因的受试者，其脂肪肝、体重指数、血清γ-谷氨酰转肽酶和血清亮氨酸氨基转肽酶水平的发生率显著高于未发生突变的受试者。携带该突变的个体空腹血糖水平也高于未携带该突变的个体。然而，三组之间糖尿病的发生率并无差异。这些结果表明，Trp64Arg突变与脂肪肝较高的发病率和轻度糖耐量异常之间可能存在关联。
