肥胖患者解偶联蛋白-1和β_3-肾上腺素能受体基因变异的研究

目的：探讨解偶联蛋白－１（ＵＣＰ－１）和β３－肾上腺素能受体（β３－ＡＲ）基因在肥胖人群中的变异及其对肥胖患者基础代谢率（ＢＭＲ）和体重指数（ＢＭＩ）的影响。方法：应用聚合酶链反应产物限制性酶切片段长度多态性检测法测定ＵＣＰ－１基因Ａ→Ｇ（－３８２６）变异和β３－ＡＲＴｒｐ６４Ａｒｇ突变并作基因分型，分析突变等位基因与ＢＭＲ和ＢＭＩ的相关性。结果：本研究肥胖人群ＵＣＰ－１野生型等位基因（Ａ）和突变型等位基因（Ｇ）的频率分别为０．７１７０和０．２８９９。β３－ＡＲ野生型等位基因（Ｔｒｐ６４）和突变型等位基因（Ａｒｇ６４）的频率分别为０．８４４２和０．１５５８。ＵＣＰ－１和β３－ＡＲ基因均有变异的肥胖患者与该两基因均无变异的肥胖患者相比，ＢＭＲ降低和ＢＭＩ增高分别显示极显著意义（Ｐ＜０．０１）和显著意义（Ｐ＜０．０５）。结论：ＵＣＰ－１基因Ａ→Ｇ（－３８２６）变异和β３－ＡＲＴｒｐ６４Ａｒｇ突变与肥胖患者ＢＭＲ降低和体重增加相关，两基因的变异对ＢＭＲ和ＢＭＩ的影响存在加合作用。

Study on the Variation in Uncoupling Protein1 and 3Adrenergic Receptor Genes of Obese Humans

Objective:To investigate the genetic variation in uncoupling protein1(UCP1)gene and 3adrenergic receptor(3AR) of obese humans and the possible effects of the mutant alleles on the basal metabolic rate(BMR)and body mass index(BMI)of the obese subjects. Methods:PCRRFLP assay was used to genotype the UCP1 AG(-3826)polymorphism and 3AR Trp64Arg polymorphism and analyse the association of the mutant alleles with BMR and BMI. Results:The allele frequencies were 0.7101 and 0.2899 for the UCP1 wildtype allele (A) and mutant allele (G),and 0.8442 and 0.1558 for 3AR wildtype allele(Trp64) and mutant allele(Arg64),respectively,in the obese people studied.The BMR of the obese subjects with variant genes of both UCP1 and 3AR was lower(P<0.01),while the BMI was higher(P<0.05),compared with the obese subjects without these variant genes. Conclusion: The AG(-3826)variant of UCP1 gene and the Trp64Arg mutation of 3AR gene were associated with the decrease of BMR and weight gain in the obese people.Both of UCP1 and 3AR variant genes had an additive effect on the BMR and BMI of the obese subjects.