The role of MTHFR polymorphisms in the risk of lipedema.

OBJECTIVE: This study examines the role of MTHFR gene polymorphism (rs1801133) in women with lipedema (LIPPY) body composition parameters compared to a control group (CTRL). SUBJECTS AND METHODS: We carried out a study on a sample of 45 LIPPY and 50 women as a CTRL. Body composition parameters were examined by Dual-energy X-ray Absorptiometry (DXA). A genetic test was performed for the MTHFR polymorphism (rs1801133, 677C>T) using a saliva sample for LIPPY and CTRL groups. Mann-Whitney tests evaluated statistically significant differences between four groups (carriers and non-carriers of the MTHFR polymorphism for LIPPY and CTRL groups) on anthropometric/body composition parameters to identify patterns. RESULTS: LIPPY showed significantly higher (p<0.05) anthropometric parameters (weight, BMI, waist, abdominal, hip circumferences) and lower waist/hip ratio (p<0.05) compared to the CTRL group. The association between the polymorphism alleles related to the rs1801133 MTHFR gene and the body composition values LIPPY carriers (+) showed an increase in fat tissue of legs and fat region of legs percentage, arm's fat mass (g), leg's fat mass (g), and leg's lean mass (g) (p<0.05) compared to CTRL (+). Lean/fat arms and lean/fat legs were lower (p<0.05) in LIPPY (+) than in CTRL (+). In the LIPPY (+), the risk of developing the lipedema disease was 2.85 times higher (OR=2.85; p<0.05; 95% confidence interval = 0.842-8.625) with respect to LIPPY (-) and CTRL. CONCLUSIONS: The presence or absence of MTHFR polymorphism offers predictive parameters that could better characterize women with lipedema based on the association between body composition and MTHFR presence.

FTO rs9939609 influence on adipose tissue localization in the Italian population.

OBJECTIVE: Among the genes involved in obesity, the Fat mass and obesity-associated gene (FTO) is certainly one of the most known and the relation between FTO rs9939609 and BMI is highly discussed; nevertheless, data about its influence on body composition are limited. MATERIALS AND METHODS: We carried out a study on a sample of 1066 Italian subjects, whose body composition and FTO rs9939609 were analyzed. RESULTS: We found significant relations between FTO with arm (p=0.01), abdomen (p=0.00), and trunk circumferences (p=0.00), BMI (p=0.01), FM% (p=0.00), and android FM% (p=0.01), whereas no relations were found between FTO and both gynoid fat and lean mass. CONCLUSIONS: To conclude, the relation between FTO and BMI is confirmed and is related specifically with android FM%. These results indicated that FTO rs9939609 may be a genetic etiological factor for obesity. Indeed, the specificity for the android FM% would indicate FTO as an etiological factor in the development of cardiovascular diseases.