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Copy number of pancreatic polypeptide receptor gene NPY4R correlates with body mass index and waist circumference

Journal article
Authors K. Shebanits
Johanna C. Andersson-Assarsson
I. Larsson
Lena M S Carlsson
L. Feuk
D. Larhammar
Published in Plos One
Volume 13
Issue 4
ISSN 1932-6203
Publication year 2018
Published at Institute of Medicine, Department of Molecular and Clinical Medicine
Language en
Keywords droplet-digital pcr, food-intake, extreme obesity, human genome, life-style, predisposes, discovery, appetite, chinese, sex
Subject categories Clinical Medicine


Multiple genetic studies have linked copy number variation (CNV) in different genes to body mass index (BMI) and obesity. A CNV on chromosome 10q11.22 has been associated with body weight. This CNV region spans NPY4R, the gene encoding the pancreatic polypeptide receptor Y4, which has been described as a satiety-stimulating receptor. We have investigated CNV of the NPY4R gene and analysed its relationship to BMI, waist circumference and self-reported dietary intake from 558 individuals (216 men and 342 women) representing a wide BMI range. The copy number for NPY4R ranged from 2 to 8 copies (average 4.6 +/- 0.8). Rather than the expected negative correlation, we observed a positive correlation between NPY4R copy number and BMI as well as waist circumference (r = 0.267, p = 2.65x 10(-7) and r = 0.256, p = 8x10(-7), respectively). Each additional copy of NPY4R correlated with 2.6 kg/m(2) increase in BMI and 5.67 cm increase in waist circumference (p = 3.3x10(-7) and p = 1x10(-6), respectively) for women. For men, there was no statistically significant correlation between CNV and BMI. Our results suggest that NPY4R genetic variation influences body weight in women, but the exact role of this receptor appears to be more complex than previously proposed.

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