Clinical features associated with the homozygous Trp64Arg mutation of the beta3-adrenergic receptor: no evidence for its association with obesity in Japanese.
To characterize the clinical features associated with the Trp64Arg mutation of the beta3-adrenergic receptor (beta3-AR), the effects of this mutation, in particular the homozygous state (Arg/Arg), on obesity, blood pressure, and plasma lipoproteins were investigated in 2 populations: subjects residing on a small isolated island (group 1; n=746) and patients residing in Tokyo who attend a clinic for metabolic diseases (group 2; n=371). The allelic frequency of the Trp64Arg mutation was 23.4% in group 1 and 18.3% in group 2. No significant difference in the body mass index was observed between subjects with 3 different genotypes in each group. There was a trend that the Arg/Arg had higher systolic blood pressure than the Trp/Trp in both groups, but the differences were not statistically significant. The plasma LDL cholesterol levels were significantly lower in Arg/Arg than in Trp/Trp in men from the group 1 cohort (2.82+/-0.84 versus 3.19+/-0.7 mmol/L, P<0.05). These results suggest that the homozygous Trp64Arg mutation is not a major contributing factor for obesity, but potentially contributed to higher systolic blood pressure and low plasma levels of LDL cholesterol in Japanese men.
Sun
L
L
Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.
Ishibashi
S
S
Osuga
J
J
Harada
K
K
Ohashi
K
K
Gotoda
T
T
Fukuo
Y
Y
Yazaki
Y
Y
Yamada
N
N
D001120:Arginine; D001794:Blood Pressure; D015992:Body Mass Index; D008078:Cholesterol, LDL / Q000097:blood; D015331:Cohort Studies; D003924:Diabetes Mellitus, Type 2; D004562:Electrocardiography; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000097:blood / Q000235:genetics*; D017354:Point Mutation; D011943:Receptors, Adrenergic, beta / Q000235:genetics*; D022702:Receptors, Adrenergic, beta-3; D014280:Triglycerides / Q000097:blood; D014364:Tryptophan
D008078:Cholesterol, LDL; D011943:Receptors, Adrenergic, beta; D022702:Receptors, Adrenergic, beta-3; D014280:Triglycerides; D014364:Tryptophan; D001120:Arginine