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Updated: Jun 17, 2026
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
A multilocus candidate approach identifies ACE and HIF1A as susceptibility genes for cellulite
E Emanuele1, M Bertona, D Geroldi
1Department of Health Sciences, University of Pavia, Pavia, Italy. enzo.em@libero.it
Summary
Genetic factors influence cellulite risk. This study found specific variants in the ACE and HIF1A genes are significantly associated with cellulite development in women, offering new insights into its causes.
Area of Science:
- Genetics
- Dermatology
- Cosmetic Science
Background:
- Cellulite is a common cosmetic concern in women, presenting as skin surface irregularities.
- The genetic underpinnings of cellulite development are not fully understood.
- Previous research suggests genetic factors may contribute to cellulite predisposition.
Purpose of the Study:
- To investigate the association between candidate gene polymorphisms and cellulite risk.
- To explore genetic links related to oestrogen receptors, endothelial function, lipid metabolism, and adipose tissue biology.
- To clarify the genetic background of cellulite development.
Main Methods:
- A case-control study involving 200 women with cellulite and 200 matched controls.
- Analysis of 25 polymorphisms across 15 candidate genes.
- Logistic regression analysis adjusted for age, BMI, contraceptive use, and smoking.
Main Results:
- Two polymorphisms, ACE rs1799752 and HIF1A rs11549465, showed significant association with cellulite (P < 0.01).
- The ACE polymorphism (rs1799752) was associated with an increased odds ratio for cellulite.
- The HIF1A polymorphism (rs11549465) was associated with a decreased odds ratio for cellulite.
Conclusions:
- The Angiotensin-Converting Enzyme (ACE) and Hypoxia-Inducible Factor 1-Alpha (HIF1A) genes play an independent role in cellulite predisposition.
- These findings offer new insights into the pathophysiology of cellulite.
- The study highlights potential targets for future research in cosmetic interventions.
