The purpose of this study was to assess the influence of single nucleotide polymorphism 3 (SNP3) of the apolipoprotein A-V ( APOA5) gene on the serum triglyceride (TG) level in Japanese schoolchildren. To determine the frequency of the genotype, we analyzed 552 schoolchildren. The frequencies of the T/T, T/C and C/C genotypes of the APOA5 gene were 225 (40.8%), 263 (47.6%) and 64 (11.6%), respectively. The serum TG level was significantly different among the genotypic groups after adjustments for age, gender and obesity index (T/T 71.6+/-34.8 mg/dl, T/C 80.7+/-36.1 mg/dl, C/C 94.4+/-69.4 mg/dl, P<0.0001). The odds ratio (95% confidence interval) for hypertriglyceridemia of the C allele was 2.4 (1.0-6.2). Our data suggested that the T/C promoter region polymorphism of the APOA5 gene appears to be a genetic risk factor for hypertriglyceridemia in Japanese children.

OBJECTIVE: To investigate whether Trp64Arg polymorphism of the b b 3 -adrenergic receptor (b b 3 -AR) gene and Gln223Arg polymorphism of the leptin receptor (Ob-R) gene are associated with obesity in Japanese schoolchildren. DESIGN: Population study of participants from a rural town located within 50 km northeast of Tokyo based on school medical examinations. SUBJECTS: 553 Japanese schoolchildren (291 boys and 262 girls) who were 9 ± 15 y old with a mean age of 11.9 AE 1.8 y. MEASUREMENTS: DNA was extracted from whole blood and genotyped by PCR-RFLP. Height, weight and blood pressure were measured in school medical examinations. Total cholesterol, triglyceride and HDL-cholesterol concentrations were measured by an autoanalyzer. Obesity index, body mass index (BMI) and LDL-cholesterol concentration were calculated by the respective formulae. RESULTS: In Trp64Arg polymorphism of the b b 3 -AR gene, the number of obese subjects with TrpaArg or ArgaArg genotypes was signi®cantly higher than that of the non-obese subjects (w w 2 5.79, P 0.02). The obesity index of subjects with the ArgaArg or ArgaTrp genotype was signi®cantly higher than that of those with the TrpaTrp genotype (8.2 AE 18.7% vs 4.5 AE 15.8%, P 0.04). Moreover, after adjustments for age and gender, BMI of subjects with the TrpaArg or ArgaArg genotype was signi®cantly higher than that of those with the TrpaTrp genotype (19.4 AE 3.6 kgam 2 vs 18.9 AE 3.2 kgam 2 , P 0.02). However, no signi®cant differences were observed in the clinical characteristics among the genotype groups of the Ob-R gene. CONCLUSIONS: Trp64Arg polymorphism of the b b 3 -AR gene appears to be a genetic risk factor for obesity in Japanese children, but Gln223Arg polymorphism of the Ob-R gene does not appear to be associated with obesity.

Endothelial lipase (EL) is a new member of the triglyceride lipase family, the genes of which play a central role in dietary fat absorption, energy homeostasis, and plasma lipoprotein metabolism. One physiologic role of EL is thought to be hydrolysis of high-density lipoprotein (HDL) phospholipid, although the precise function of endothelial lipase has yet to be fully clarified. Furthermore, genetic variation in EL has been suggested to influence serum HDL-C levels. In the present study, we detected two common single nucleotide polymorphisms in the EL gene associated with serum HDL cholesterol levels in healthy school-aged children. Our data support the hypothesis that variations in the EL gene are one of the genetic determinants of serum HDL-C levels.

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