Variation in the perilipin gene (PLIN) affects glucose and lipid metabolism in non-Hispanic white women with and without polycystic ovary syndrome

Kawai, Toshihide; Ng, Maggie C.Y.; Hayes, M. Geoffrey; Yoshiuchi, Issei; Tsuchiya, Takafumi; Robertson, Heather; Cox, Nancy J.; Polonsky, Kenneth S.; Bell, Graeme I.; Ehrmann, David A.

doi:10.1016/j.diabres.2009.09.002

« Previous Next »Diabetes Research and Clinical Practice
Volume 86, Issue 3 , Pages 186-192, December 2009

Variation in the perilipin gene (PLIN) affects glucose and lipid metabolism in non-Hispanic white women with and without polycystic ovary syndrome

Toshihide Kawai
- Department of Medicine, The University of Chicago, Chicago, IL, USA
- Corresponding author at: Department of Medicine, The University of Chicago, 5841 S. Maryland Ave., MC1027, Chicago, IL 60637, USA. Tel.: +1 773 702 9116; fax: +1 773 702 9237.
Maggie C.Y. Ng
- Department of Medicine, The University of Chicago, Chicago, IL, USA
- Department of Pediatrics, Section on Medical Genetics, and Centers for Human Genomics and Diabetes Research, Wake Forest University School of Medicine, Winston-Salem, NC, USA
M. Geoffrey Hayes
- Department of Medicine, The University of Chicago, Chicago, IL, USA
Issei Yoshiuchi
- Department of Medicine, The University of Chicago, Chicago, IL, USA
Takafumi Tsuchiya
- Department of Medicine, The University of Chicago, Chicago, IL, USA
Heather Robertson
- Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA
Nancy J. Cox
- Department of Medicine, The University of Chicago, Chicago, IL, USA
- Department of Human Genetics, The University of Chicago, Chicago, IL, USA
Kenneth S. Polonsky
- Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA
Graeme I. Bell
- Department of Medicine, The University of Chicago, Chicago, IL, USA
- Department of Human Genetics, The University of Chicago, Chicago, IL, USA
David A. Ehrmann
- Department of Medicine, The University of Chicago, Chicago, IL, USA

Received 11 July 2009; received in revised form 30 August 2009; accepted 3 September 2009. published online 27 September 2009.

Abstract

Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women. It is characterized by chronic anovulation, hyperandrogenism, obesity and a predisposition to type 2 diabetes mellitus (T2DM). Since obesity plays an important role in the etiology of PCOS, we sought to determine if variants in the perilipin gene (PLIN), a gene previously implicated in the development of obesity, were also associated with PCOS. We typed six single nucleotide polymorphisms (haplotype tagging and/or previously associated with obesity or related metabolic traits) in PLIN in 305 unrelated non-Hispanic white women (185 with PCOS and 120 without PCOS). None of the variants was associated with PCOS (P<0.05). However, the variant rs1052700*A was associated with increased risk for glucose intolerance (impaired glucose tolerance or T2DM) in both non-PCOS (OR=1.75 [1.02–3.01], P=0.044) and PCOS subjects (OR=1.67 [1.08–2.59], P=0.022). It was also associated with increased LDL (P=0.007) and total cholesterol levels (P=0.042). These results suggest that genetic variation in PLIN may affect glucose and lipid metabolism in women both with and without PCOS.