SOX6 rs7117858 polymorphism is associated with osteoporosis and obesity‐related phenotypes

• Published in: European journal of clinical investigation 2018-10, Vol.48 (10), p.e13011-n/a
• Main Authors: Correa‐Rodríguez, María, Schmidt‐RioValle, Jacqueline, Rueda‐Medina, Blanca
• Format: Article
• Language: English
• Subjects: Adults; Biocompatibility; Body fat; Body mass; Body Mass Index; Body size; Bone Density - physiology; Bone mass; Calcaneus; Calcaneus - physiology; Cross-Sectional Studies; fat mass; Female; Females; Gene polymorphism; Genetic diversity; Genetic Predisposition to Disease - genetics; Genetic variance; Humans; lean mass; Male; Obesity; Obesity - complications; Obesity - genetics; Obesity - physiopathology; Osteoporosis; Osteoporosis - complications; Osteoporosis - genetics; Osteoporosis - physiopathology; Phenotype; Phenotypes; Pleiotropy; Polymorphism; Polymorphism, Single Nucleotide - genetics; quantitative ultrasound; Regression analysis; Single-nucleotide polymorphism; SOX6 gene; SOXD Transcription Factors - genetics; Ultrasound; Weight; Young Adult; Young adults
• ISSN: 0014-2972; 1365-2362
• DOI: 10.1111/eci.13011

Background SOX6 has been recently proposed as a pleiotropic gene for obesity and osteoporosis. The aim of this study was to investigate whether the rs7117858 genetic variant in SOX6 was associated with bone mass assessed by quantitative ultrasound (QUS) and obesity‐related measures in a population of young adults. Methods A cross‐sectional study was conducted in 550 unrelated healthy individuals of Caucasian ancestry (381 (69.3%) female and 169 (30.7%) male; mean age 20.46 ± 2.69). Bone mass was assessed through calcaneal QUS) parameter (BUA, dB/MHz). Obesity‐related traits including weight, body mass index (BMI), fat mass (FM) and fat‐free mass (FFM) were analysed. Results The linear regression analysis revealed that the rs7117858 SNP was significantly associated with FFM after adjustments for covariables in the whole sample (P = 0.027, β (95% CI) = 0.053 (0.092, 1.516). In addition, a significant association with QUS measurement adjusted for confounding factors was found in females (P = 0.043, β (95% CI) = 0.104 (0.138. 8.384). Conclusions We demonstrate for the first time that SOX6 influence FFM and QUS trait in a population of young adults, suggesting the implication of this gene in obesity and osteoporosis‐related phenotypes during early adulthood.