A multilocus candidate approach identifies ACE and HIF1A as susceptibility genes for cellulite

• Published in: Journal of the European Academy of Dermatology and Venereology Vol. 24; no. 8; pp. 930 - 935
• Main Authors: Emanuele, E, Bertona, M, Geroldi, D
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.08.2010
• Subjects: Adipose Tissue; Adult; angiotensin I-converting enzyme; Case-Control Studies; cellulite; Female; Gene Frequency - genetics; Genetic Predisposition to Disease - genetics; genetics; Genotype; Humans; Hypoxia-Inducible Factor 1, alpha Subunit - genetics; hypoxia-inducible factor-1 alpha; Logistic Models; Obesity - genetics; Peptidyl-Dipeptidase A - genetics; polymorphism; Polymorphism, Genetic - genetics
• ISSN: 0926-9959; 1468-3083
• DOI: 10.1111/j.1468-3083.2009.03556.x

Background  Cellulite is a common complex cosmetic problem for many post‐adolescent women characterised by relief alterations of the skin surface, which give the skin an orange‐peel appearance. Although genetic factors have been suggested to play a role in the development of cellulite, the genetic background of this condition remains unclear. We therefore conducted a multi‐locus genetic study examining the potential associations of candidate gene variants in oestrogen receptors, endothelial function/adipose tissue hypoxia, lipid metabolism, extracellular matrix homeostasis, inflammation and adipose tissue biology, with the risk of cellulite. Methods  Using a case–control study of 200 lean women with cellulite and 200 age‐ and BMI‐matched controls (grade 0 according to Nurnberger–Muller scale), we examined the association of cellulite with 25 polymorphisms in 15 candidate genes. Results  Two of the 25 polymorphisms were significantly associated with cellulite at the P < 0.01 level. After allowance for age, body mass index, the prevalence of contraceptive use and smoking in logistic regression analysis, the multivariable‐adjusted odds ratios for cellulite were 1.19 (95% CI: 1.10–1.51; P < 0.01) for ACE rs1799752 and 0.61 (95% CI: 0.45–0.88, P < 0.01) for HIF1A rs11549465. Conclusions  This study, which demonstrates an independent role of ACE and HIF1A in predisposing to cellulite, may provide novel information on the pathophysiology of this common cosmetic problem, and offer a topic for research for novel beautification interventions.