School of Medicine and Health Sciences Poster Presentations

Title

Association of SREBF1 and TOM1L2 Polymorphisms with Bone and Muscle Phenotypes

Document Type

Poster

Abstract Category

Basic Biomedical Sciences

Keywords

genetics, bone, muscle, association, single nucleotide polymorphisms

Publication Date

Spring 5-1-2019

Abstract

The mechanostat hypothesis suggests that bone homeostasis is altered by local mechanical elastic changes. Studies have shown that bone mineral density (BMD) increases in response to muscle use, but the genetic variants influencing these relationships are not fully understood. In this study, we focused on single nucleotide polymorphisms (SNPs) rs1889018 on SREBF1 (associated with muscle strength) and rs7501812 on TOM1L2 (associated with BMD). Our goal was to explore their effects on musculoskeletal phenotypes in three cohorts which included children and young adults. Phenotype data was available from our three cohorts. The cohorts were genotyped using Applied Biosystems Taqman allelic discrimination assays and the QuantStudio 7 Flex Real-Time PCR System. After testing for Hardy-Weinberg equilibrium (HWE), data was stratified by sex and race, and analyzed using an additive model with analysis of covariance (ANCOVA). Where appropriate, post hoc pair-wise comparisons were performed and p-values adjusted for multiple comparisons via Sidak method. Total body (height adjusted z-score, without head) BMD was statistically associated with TOM1L2 rs7501812 variants in African American males (p=0.0159) in a pediatric fracture study group. VO2 max was statistically associated with TOM1L2 rs7501812 variants in Caucasian males (p=0.0099) recruited from a cohort recruited to study markers of metabolic syndromes, while right-hand grip strength was statistically associated with SREBF1 rs1889018 variants in Caucasian females (p=0.0282) from the same cohort. Our data confirm that variants in rs7501812 and rs1889018 are associated with musculoskeletal phenotypes including total body BMD, grip strength, and VO2 max, in both Caucasians and African Americans. Our data supports the results of previous studies by showing an association between muscule phenotypes and SREBF1, as well as bone mineral density and TOM1L2. Further studies are needed to confirm these results and explore the differences found amongst cohorts based on sex and race.

Open Access

1

Comments

Presented at Research Days 2019.

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Association of SREBF1 and TOM1L2 Polymorphisms with Bone and Muscle Phenotypes

The mechanostat hypothesis suggests that bone homeostasis is altered by local mechanical elastic changes. Studies have shown that bone mineral density (BMD) increases in response to muscle use, but the genetic variants influencing these relationships are not fully understood. In this study, we focused on single nucleotide polymorphisms (SNPs) rs1889018 on SREBF1 (associated with muscle strength) and rs7501812 on TOM1L2 (associated with BMD). Our goal was to explore their effects on musculoskeletal phenotypes in three cohorts which included children and young adults. Phenotype data was available from our three cohorts. The cohorts were genotyped using Applied Biosystems Taqman allelic discrimination assays and the QuantStudio 7 Flex Real-Time PCR System. After testing for Hardy-Weinberg equilibrium (HWE), data was stratified by sex and race, and analyzed using an additive model with analysis of covariance (ANCOVA). Where appropriate, post hoc pair-wise comparisons were performed and p-values adjusted for multiple comparisons via Sidak method. Total body (height adjusted z-score, without head) BMD was statistically associated with TOM1L2 rs7501812 variants in African American males (p=0.0159) in a pediatric fracture study group. VO2 max was statistically associated with TOM1L2 rs7501812 variants in Caucasian males (p=0.0099) recruited from a cohort recruited to study markers of metabolic syndromes, while right-hand grip strength was statistically associated with SREBF1 rs1889018 variants in Caucasian females (p=0.0282) from the same cohort. Our data confirm that variants in rs7501812 and rs1889018 are associated with musculoskeletal phenotypes including total body BMD, grip strength, and VO2 max, in both Caucasians and African Americans. Our data supports the results of previous studies by showing an association between muscule phenotypes and SREBF1, as well as bone mineral density and TOM1L2. Further studies are needed to confirm these results and explore the differences found amongst cohorts based on sex and race.