School of Medicine and Health Sciences Poster Presentations

Title

Association of GREB1 Polymorphisms with Bone and Muscle Health Phenotypes

Document Type

Poster

Abstract Category

Health Services

Keywords

genetics, bone, muscle, association, single nucleotide polymorphisms

Publication Date

Spring 5-1-2019

Abstract

Previous studies have noted that the oestrogen in breast cancer 1 gene (GREB1) locus is associated with variation in bone mineral density (BMD). In one study, genetic variants of GREB1 were found to be associated with BMD at the lumbar spine and femoral neck in Caucasian adults. The current study sought to expand the understanding of the role genetic variation in GREB1 polymorphisms rs5020877 and rs10929757 plays on BMD measures in three cohorts of children and young adults. Applied Biosystems Taqman Allelic Discrimination Assays and the Applied Biosystems QuantStudio 7 Flex Real-Time PCR System were used to genotype DNA samples. Hardy-Weinberg Equilibrium (HWE) was assessed for each SNP, analyses were separated by sex, and analysis of covariance (ANCOVA) tests were utilized. Where post hoc pair-wise comparisons were performed, resulting p-values were adjusted for multiple comparisons via Sidak method. Our analysis found that variants in rs5020877 were significantly correlated with lumbar spine bone mineral content (BMC) (p=0.034) and left hip BMD (p=0.049) in African American males from a pediatric fracture cohort. In the same group, rs10929757 variants were significantly associated with total body BMD (p=0.027), and left hip BMD (p<0.008) in females. In addition, rs5020877 variants were significantly associated with baseline one-repetition maximum strength in the non-dominant arms of Caucasian females (p=0.021) in an exercise study cohort. The rs10929757 SNP was significantly associated with bone phenotypes in African American males and females, while the rs5020877 SNP variant was associated with a muscle strength measure in Caucasian females. The results of this study suggest that variations in the GREB1 gene may contribute to measures of both muscle strength as well as bone quality. However, given the low incidence of the rare allele for either SNP, further study is needed to verify these findings.

Open Access

1

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Presented at Research Days 2019.

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Association of GREB1 Polymorphisms with Bone and Muscle Health Phenotypes

Previous studies have noted that the oestrogen in breast cancer 1 gene (GREB1) locus is associated with variation in bone mineral density (BMD). In one study, genetic variants of GREB1 were found to be associated with BMD at the lumbar spine and femoral neck in Caucasian adults. The current study sought to expand the understanding of the role genetic variation in GREB1 polymorphisms rs5020877 and rs10929757 plays on BMD measures in three cohorts of children and young adults. Applied Biosystems Taqman Allelic Discrimination Assays and the Applied Biosystems QuantStudio 7 Flex Real-Time PCR System were used to genotype DNA samples. Hardy-Weinberg Equilibrium (HWE) was assessed for each SNP, analyses were separated by sex, and analysis of covariance (ANCOVA) tests were utilized. Where post hoc pair-wise comparisons were performed, resulting p-values were adjusted for multiple comparisons via Sidak method. Our analysis found that variants in rs5020877 were significantly correlated with lumbar spine bone mineral content (BMC) (p=0.034) and left hip BMD (p=0.049) in African American males from a pediatric fracture cohort. In the same group, rs10929757 variants were significantly associated with total body BMD (p=0.027), and left hip BMD (p<0.008) in females. In addition, rs5020877 variants were significantly associated with baseline one-repetition maximum strength in the non-dominant arms of Caucasian females (p=0.021) in an exercise study cohort. The rs10929757 SNP was significantly associated with bone phenotypes in African American males and females, while the rs5020877 SNP variant was associated with a muscle strength measure in Caucasian females. The results of this study suggest that variations in the GREB1 gene may contribute to measures of both muscle strength as well as bone quality. However, given the low incidence of the rare allele for either SNP, further study is needed to verify these findings.