Genetic variation at the perilipin (PLIN) locus is associated with obesity-related phenotypes in White women

  1. L Qi1,
  2. D Corella1,2,
  3. JV Sorlí2,3,
  4. O Portolés2,
  5. H Shen1,
  6. O Coltell1,4,
  7. D Godoy3,
  8. AS Greenberg5,
  9. JM Ordovas1,*

Article first published online: 16 AUG 2004

DOI: 10.1111/j.1399-0004.2004.00309.x

Issue

Clinical Genetics

Clinical Genetics

Volume 66, Issue 4, pages 299–310, October 2004

Additional Information

How to Cite

Qi, L., Corella, D., Sorlí, J., Portolés, O., Shen, H., Coltell, O., Godoy, D., Greenberg, A. and Ordovas, J. (2004), Genetic variation at the perilipin (PLIN) locus is associated with obesity-related phenotypes in White women. Clinical Genetics, 66: 299–310. doi: 10.1111/j.1399-0004.2004.00309.x

Author Information

  1. 1

    The Nutrition and Genomics Laboratory, Jean Mayer–US Department of Agriculture Human Nutrition Research Center on Aging at Tufts University, Boston, USA,

  2. 2

    The Genetic and Molecular Epidemiology Unit, Department of Preventive Medicine, University of Valencia,

  3. 3

    The Department of Internal Medicine, University General Hospital, Valencia,

  4. 4

    The Department of Computer Languages and Systems, University Jaume I, Castellón, Spain, and

  5. 5

    The Obesity and Metabolism Laboratory, Jean Mayer–US Department of Agriculture Human Nutrition Research Center on Aging at Tufts University, Boston, USA

* JM Ordovas, Nutrition and Genomics Laboratory, JM USDA HNRCA at Tufts University, 711 Washington Street, Boston, MA 02111, USA. Tel.: +1 617 556 3102; fax: +1 617 556 3211; e-mail: jose.ordovas@tufts.edu

Publication History

  1. Issue published online: 8 SEP 2004
  2. Article first published online: 16 AUG 2004
  3. Received 30 March 2004, revised and accepted for publication 25 May 2004

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Keywords:

  • lipids;
  • lipolysis;
  • obesity;
  • perilipin;
  • polymorphisms;
  • triacylglycerol

Perilipin coats intracellular lipid droplets and modulates adipocyte lipolysis. We have evaluated the association between several polymorphisms at the perilipin (PLIN) locus (PLIN1 : 6209T > C, PLIN4 : 11482G > A, PLIN5 : 13041A > G, and PLIN6 : 14995A > T) with obesity-related phenotypes in 1589 White subjects randomly selected from a general Spanish population. In women (n = 801), the less common alleles of PLIN1 and PLIN4, in strong linkage disequilibrium (D′ : 0.96), were significantly associated with lower body mass index. Carriers of the allele 2 (6209C) at the PLIN1 locus weighed significantly less (−2.2 kg; p = 0.007) than women homozygotes for the wild-type genotype. The same was true for 11482A carriers at PLIN4 (p = 0.01). Moreover, the PLIN4 variant was associated with significantly lower waist-to-hip ratio, plasma glucose, and triacylglycerol concentrations. No significant associations with these obesity-related phenotypes were found in men. In agreement with these results, statistically significant gene–gender interactions were obtained when the risk of obesity was estimated (281 subjects were obese and 1308 non-obese). Only in women, PLIN1 and PLIN4 variant alleles (6209C and 11482A) were associated with a lower obesity risk [Odds ratio (OR) = 0.58, 95% confidence interval (CI): 0.38–0.93 and OR = 0.56, 95% CI: 0.36–0.89, respectively]. In summary, our data suggest that common alleles at the PLIN locus modulate body weight and metabolic variables in humans.

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