Polymorphism of Trp64Arg in β3-adrenergic receptor gene and serum LDL-cholesterol concentrations in healthy Japanese

Ann Clin Biochem 2008;45:313-315
© 2008 Association for Clinical Biochemistry


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Short Reports

Kazuhiko Kotani1,2,
Naoki Sakane2,
Youichi Kurozawa1,
Akihiko Kaetsu3,
Mikizo Okamoto3,
Yoneatsu Osaki3 and
Takuji Kishimoto3

1 Division of Health Administration and Promotion, Faculty of Medicine, Tottori University, Yonago, 683-8503, Japan;
2 Department of Preventive Medicine, Clinical Research Institute for Endocrine and Metabolic Disease, National Hospital Organization Kyoto Medical Center, Kyoto, 612-8555, Japan;
3 Division of Environmental and Preventive Medicine, Faculty of Medicine, Tottori University, Yonago, 683-8503, Japan

Corresponding author: Dr Kazuhiko Kotani. Email: kakotani{at}grape.med.tottori-u.ac.jp

Background: Polymorphism of Trp64Arg in the β3-adrenergic receptor (β3-AR) gene may play a critical role in lipid and lipoprotein metabolism by mediating lipolysis and thermogenesis. Since the frequency of Arg alleles of the β3-AR gene is generallylow among many populations, studies on the Arg/Arg genotypein relation to lipid and lipoprotein metabolism are requiredin countries such as Japan which has a relatively high frequencyof the Arg allele.

Methods: We genotyped 275 clinically healthy Japanese (male/female, 134/141, mean 45.7 years) without medication for β3-AR gene polymorphismby polymerase chain reaction–restriction fragment lengthpolymorphism analysis, and investigated the effects of the genepolymorphism on clinical parameters including body mass index(BMI), blood pressure and serum lipid and lipoprotein concentrations.

Results: The genotype frequencies were: Trp/Trp, 68.0%; Try/Arg, 28.0% and Arg/Arg, 4.0%, with an allele frequency of 0.18 for Arg64. When subjects were divided into three groups according to the genotype, a significant increase of serum LDL-cholesterol (LDL-C) concentration in the Arg/Arg group (3.48 ± 1.59 mmol/L) was observed when compared with those of the Trp/Trp and Arg/Trp groups (3.15 ± 0.80, 3.25 ± 0.92 mmol/L, respectively). Genotype differences did not show any significant effect on other parameters. Spearman’s rank correlation demonstrated a significant relationship between LDL-C concentrations and the number of Arg alleles, age and BMI. Multiple regression analysis, using LDL-C concentration as a criterion variable and some factors including β3-AR gene polymorphism as explanatory variables,revealed that the number of Arg alleles was a significant andindependent factor for LDL-C concentrations, along with ageand BMI.

Conclusions: These findings suggested a role of the β3-AR gene polymorphismin regulating lipid and lipoprotein metabolism, showing smallbut significant effects on elevated LDL-C values in subjectswith Arg/Arg, but not Trp/Arg and Trp/Trp genotypes.

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S. Kapoor
Trp64Arg polymorphisms of the Beta3-adrenergic receptor gene and systemic disorders of metabolism: a close association
Ann Clin Biochem,

January 1, 2009;
82 – 83.

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