School of Medicine and Health Sciences Poster Presentations

Title

FAM210A and SOST Polymorphisms are Associated with Musculoskeletal Phenotypes in Healthy Young Adults

Document Type

Poster

Abstract Category

Basic Biomedical Sciences

Keywords

genetics, bone, muscle, association, single nucleotide polymorphisms

Publication Date

Spring 5-1-2019

Abstract

Recent research has suggested that genetic variants associated with bone mineral density (BMD) and fracture risk may also predict the rate of bone acquisition and peak bone mass. Genetic variants in the muscle-specific FAM210A (rs4796995) and the bone-specific SOST (rs4792909) have been shown to be associated with total BMD and fracture risk in adults. The purpose of this study is to explore the influence of these genetic variants on musculoskeletal phenotypes in three previously developed cohorts of children and young adults. Applied Biosystems Taqman allelic discrimination assays and the QuantStudio 7 Flex Real-Time PCR System were used to perform genotyping. Hardy-Weinberg equilibrium was assessed. Phenotypes were tested in sex-specific cohorts with an additive model using analysis of covariance (ANCOVA) methods. Where applicable, post hoc pair-wise comparisons were performed and the resulting p-values adjusted using the Sidak method. Statistically significant associations were found between variants of rs4796995 and dominant arm baseline bone volume (p=0.005) and baseline cortical bone volume (dominant p=0.004, non-dominant p=0.018) in Caucasian males from an exercise cohort. Associations were also found between rs4796995 variants and the left hand isometric grip strength (p=0.007) in African American women and VO2 max (p=0.037) in Caucasian males from a cohort assessing inherited markers of metabolic syndrome. We have demonstrated that variations in the FAM210A gene in healthy young adults are strongly associated with markers of musculoskeletal fitness. These findings suggest that individuals with the minor allele, particularly Caucasian males, may be at risk for developing lower peak bone mass and muscle strength at skeletal maturity. Early identification of genetic variants associated with BMD and fracture risk has the potential to aid the development of personalized medicine strategies designed to mitigate long term fracture risk by maximizing the use of appropriate fitness, nutrition, and other health maintenance strategies.

Open Access

1

Comments

Presented at Research Days 2019.

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FAM210A and SOST Polymorphisms are Associated with Musculoskeletal Phenotypes in Healthy Young Adults

Recent research has suggested that genetic variants associated with bone mineral density (BMD) and fracture risk may also predict the rate of bone acquisition and peak bone mass. Genetic variants in the muscle-specific FAM210A (rs4796995) and the bone-specific SOST (rs4792909) have been shown to be associated with total BMD and fracture risk in adults. The purpose of this study is to explore the influence of these genetic variants on musculoskeletal phenotypes in three previously developed cohorts of children and young adults. Applied Biosystems Taqman allelic discrimination assays and the QuantStudio 7 Flex Real-Time PCR System were used to perform genotyping. Hardy-Weinberg equilibrium was assessed. Phenotypes were tested in sex-specific cohorts with an additive model using analysis of covariance (ANCOVA) methods. Where applicable, post hoc pair-wise comparisons were performed and the resulting p-values adjusted using the Sidak method. Statistically significant associations were found between variants of rs4796995 and dominant arm baseline bone volume (p=0.005) and baseline cortical bone volume (dominant p=0.004, non-dominant p=0.018) in Caucasian males from an exercise cohort. Associations were also found between rs4796995 variants and the left hand isometric grip strength (p=0.007) in African American women and VO2 max (p=0.037) in Caucasian males from a cohort assessing inherited markers of metabolic syndrome. We have demonstrated that variations in the FAM210A gene in healthy young adults are strongly associated with markers of musculoskeletal fitness. These findings suggest that individuals with the minor allele, particularly Caucasian males, may be at risk for developing lower peak bone mass and muscle strength at skeletal maturity. Early identification of genetic variants associated with BMD and fracture risk has the potential to aid the development of personalized medicine strategies designed to mitigate long term fracture risk by maximizing the use of appropriate fitness, nutrition, and other health maintenance strategies.