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OBJECTIVE: Lipedema is a disorder of adipose tissue characterized by abnormal subcutaneous fat deposition, leading to swelling and enlargement of the lower limbs and trunk. The aim of this study was to evaluate the lipedema phenotype by investigating the role of polymorphisms related to IL-6 (rs1800795) gene in people with diagnosis of lipedema. The second aim was to identify indicators of body composition, useful for a differential analysis between subjects with lipedema and the control group. PATIENTS AND METHODS: Two groups are involved in the study, 45 women with lipedema (LIPPY) and 50 women randomly chosen from the population as Control (CTRL). Clinical and demographical variables recorded include weight, height, body mass index (BMI) and circumference measurements. Body composition (Fat mass, FM; lean mass, LM) was assessed by Dual-energy X-ray Absorptiometry (DXA). The genetic tests for IL-6 (rs18oo795) gene were performed for both groups, using a saliva sample. RESULTS: The study of the relationship between the IL-6 (rs1800795) gene polymorphism, the anthropometric values and the body composition indices has provided the following significant results: subjects with diagnosis of lipedema present statistically significant increased values with regard to weight, BMI, waist, abdomen and hip circumferences, arms, legs and whole FM (% and kg), gynoid FM (kg), legs LM (kg) and ASMMI. Moreover, the value of the waist hip ratio was found to be decreased. CONCLUSIONS: For the first time, we suggested that IL-6 gene polymorphism could characterize subjects with lipedema respect to Normal Weight Obese and obese subjects. The intra-group comparisons (LIPPY carriers vs. LIPPY non-carriers and CTRL carriers vs. CTRL non-carriers) showed no statistically significant values. In contrast, the inter-group comparisons (LIPPY non-carriers vs. CTRL non-carriers and LIPPY carriers vs. CTRL carriers) resulted statistically significant. We have identified other indices, such as leg index, trunk index, abdominal index, total index, that could be promising clinical tools for diagnosis of the lipedema phenotype and for predicting the evolution of the disease.