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

Diabetes Res Clin Pract. 2009 Dec;86(3):186-92. doi: 10.1016/j.diabres.2009.09.002. Epub 2009 Sep 25.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blood Glucose / metabolism*
  • Body Mass Index
  • Carrier Proteins
  • Diabetes Mellitus, Type 2 / genetics
  • Female
  • Genetic Variation*
  • Glycated Hemoglobin / metabolism
  • Humans
  • Insulin / blood
  • Lipids / blood
  • Lipids / physiology*
  • Perilipin-1
  • Phosphoproteins / genetics*
  • Polycystic Ovary Syndrome / blood
  • Polycystic Ovary Syndrome / genetics*
  • White People / genetics*


  • Blood Glucose
  • Carrier Proteins
  • Glycated Hemoglobin A
  • Insulin
  • Lipids
  • Perilipin-1
  • Phosphoproteins