The RSPO3 gene as genetic markers for bone mass assessed by quantitative ultrasound in a population of young adults

Abstract

Ultrasound bone mass measurement has been postulated as a valuable bone-health assessment tool for primary care. The aim of this study was to analyse the possible relationship between the SPTBN1, RSPO3, CCDC170, DKK1, GPATCH1, and TMEM135 genes, with calcaneal quantitative ultrasound (QUS) in a population of young adults. These genes were first associated with broadband ultrasound attenuation (BUA) in the GEFOS/GENOMOS study. A cross-sectional study was conducted on 575 individuals (mean age 20.41 ± 2.69). Bone mass at the right calcaneus was estimated by QUS. Six single-nucleotide polymorphisms (SNPs) in SPTBN1 (rs11898505), RSPO3 (rs7741021), CCDC170 (rs4869739), DKK1 (rs7902708), TMEM135 (rs597319), and GPATCH1 (rs10416265) were selected as genetic markers based on their previous association with calcaneal QUS. After adjusting for multiple confounding factors, the only significant association with QUS in our population was found for the rs7741021 SNP in the RSPO3 gene (P = 0.006) using the dominant model of inheritance. This suggests the possible implication of the RSPO3 gene in bone mass acquisition during early adulthood.

Keywords: RSPO3; calcaneal quantitative ultrasound; polymorphisms; young adults.