Variation in the 5'-flanking region of the neuropeptide Y2 receptor gene and metabolic parameters.

A previous report describes that neuropeptide Y (NPY)/NPY2 receptor (NPY2R) is involved in stress-induced visceral obesity. This is a report clarifying the effect on metabolic parameters of single nucleotide polymorphisms in the 5'-flanking region of NPY2R gene. Study participants are 317 people (98 men and 219 women, 40-79 years old) undergoing health checkups. The single nucleotide polymorphism typing of rs6857715 and rs6857530 located on the 5'-flanking region of the NPY2R gene was performed using allele-specific polymerase chain reaction method. Serum high-density lipoprotein cholesterol (HDL-C) level was significantly lower in men possessing rs6857715 TT genotype compared with CC and in men possessing rs6857530 GG genotype compared with AA. No significant difference was observed between each genotype and other metabolic parameters including body mass index, waist circumference, systolic and diastolic blood pressure, serum low-density lipoprotein cholesterol, triglyceride, and fasting plasma glucose. The variation in the 5'-flanking region of the NPY2R gene was associated with serum HDL-C level in men and was a predictor for serum HDL-C level independent of sex and serum triglyceride level.

Genetic variations at the CCAAT/enhancer-binding protein delta are associated with metabolic phenotypes in the Japanese population.

BACKGROUND: Expression of CCAAT/enhancer-binding protein delta (C/EBP-delta) gene is enhanced in the early initial stage of adipocyte differentiation. This study is intended to elucidate the association between the genetic variation of C/EBP-delta and metabolic phenotypes. SUBJECTS AND METHODS: Subjects were unselected 52 males and 120 females in Japan, aged 40 to 79 years, who visited a city hygienic center for a health checkup and agreed to participation in the study after giving informed consent. The C/EBP-delta genotypes and metabolic phenotypes were determined. An association study was performed using Pearson's chi(2) tests and logistic regression analyses. RESULTS: Two SNPs in C/EBP-delta gene with minor allele frequency greater than 0.05 were detectable among seven SNPs. Genotype heterozygous for the C and T allele (877C/T) were more prevalent in subjects with dyslipidemia [plasma triglyceride (TG) > or =150 mg/dL and/or plasma high-density lipoprotein-cholesterol (HDL-C) <40 mg/dL] as well as high fasting plasma glucose (FPG; > or =110 mg/dL) than controls (22.5% vs. 7.6%, P = 0.009, and 20.0% vs. 8.4%, P = 0.041, respectively). Moreover, the genotype 877C/T contributed to both dyslipidemia and high FPG independent of age, sex, and visceral obesity. Regarding 394C>G, no association between the genotype and metabolic phenotypes was detected. CONCLUSION: Results suggest that genetic variations in the C/EBP-delta might play a role in some metabolic phenotypes.