Novel neuropeptide Y1 and Y5 receptor gene variants: associations with serum triglyceride and high-density lipoprotein cholesterol levels

• Published in: Clinical genetics 2002-09, Vol.62 (3), p.196-202
• Main Authors: Blumenthal, JB, Andersen, RE, Mitchell, BD, Seibert, MJ, Yang, H, Herzog, H, Beamer, BA, Franckowiak, SC, Walston, JD
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Cholesterol, HDL - blood; Disorders of blood lipids. Hyperlipoproteinemia; Female; Haplotypes; HDL cholesterol; Humans; lipid metabolism; Male; Medical sciences; Metabolic diseases; Obesity - genetics; polymorphism; Polymorphism, Genetic; Receptors, Neuropeptide Y - genetics; triglyceride; Triglycerides - blood
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1034/j.1399-0004.2002.620302.x

Neuropeptide Y (NPY) appears to play a critical role in the integration of appetite and energy expenditure through NPY Y1 and Y5 receptor subtypes. Moreover, the NPY Y1 receptor is highly expressed on human adipocytes, where it inhibits lipolysis. The genes encoding these receptors are transcribed co‐ordinately in opposite directions from a common promoter in a region of chromosome 4 that has been previously linked to triglyceride and small low‐density lipoprotein (LDL) particle concentration. Therefore, the purpose of this investigation was to examine the relationship between polymorphisms in the genes encoding NPY Y1 and Y5 and the development of obesity and dyslipidemia. We screened the promoter and coding regions and identified four polymorphic variants. One of these, a cytosine to thymine (C→T) substitution in the untranslated region between the genes for NPY Y1 and Y5 (allele frequency 0.11), was significantly associated with both lower fasting triglyceride level (152 vs 125 mg/dl), and higher high‐density lipoprotein (HDL) concentrations (49 vs 45 mg/dl) (p