Dataset Information

Association between polymorphisms in the TRHR gene, fat-free mass, and muscle strength in older women.

ABSTRACT: A previous genome-wide association study suggested that polymorphisms in the thyrotrophin-releasing hormone receptor (TRHR) gene contribute to fat-free mass (FFM) variation. The aim of the present study was to examine the association between polymorphisms in the TRHR gene with FFM and muscle strength in older women. Volunteers (n = 241; age = 66.65 ± 5.5 years) underwent quadriceps strength assessment using isokinetics and fat-free mass by dual-energy X-ray absorptiometry. TRHR polymorphisms and ancestry-informative markers were genotyped through standard procedures. No significant difference was observed for rs7832552. Regarding the rs16892496, ANCOVA revealed that appendicular fat-free mass (AFFM) and relative AFFM were significantly different between groups (p = 0.04 and p = 0.05, respectively). Individuals carrying A/A and A/C genotypes respectively showed, on average, an extra 1 kg and 900 g of AFFM when compared to C/C genotype carriers. Also, the C/C genotype group presented a significantly higher chance to have reduced muscle strength. The observations presented here provide further evidence that the rs16892496 polymorphism in the TRHR gene may play a role in FFM variation. Moreover, the results bring the novel insight that this genetic variant can present a modest contribution to muscle strength in older women.

SUBMITTER: Lunardi CC

PROVIDER: S-EPMC3824979 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Association between polymorphisms in the TRHR gene, fat-free mass, and muscle strength in older women.

Lunardi Cláudia C CC Lima Ricardo M RM Pereira Rinaldo W RW Leite Tailce K M TK Siqueira Ana B M AB Oliveira Ricardo J RJ

Age (Dordrecht, Netherlands) 20130402 6

A previous genome-wide association study suggested that polymorphisms in the thyrotrophin-releasing hormone receptor (TRHR) gene contribute to fat-free mass (FFM) variation. The aim of the present study was to examine the association between polymorphisms in the TRHR gene with FFM and muscle strength in older women. Volunteers (n = 241; age = 66.65 ± 5.5 years) underwent quadriceps strength assessment using isokinetics and fat-free mass by dual-energy X-ray absorptiometry. TRHR polymorphisms and ...[more]

PMID: 23543262

Similar Datasets

Project description:BackgroundHeritability explains 45-82% of muscle mass and strength variation, yet polygenic models for muscle phenotypes in older women are scarce. Therefore, the objective of the present study was to (1) assess if total genotype predisposition score (GPSTOTAL) for a set of polymorphisms differed between older women with low and high muscle mass, and (2) utilise a data-driven GPS (GPSDD) to predict the variance in muscle size and strength-related phenotypes.MethodsIn three-hundred 60- to 91-year-old Caucasian women (70.7 ± 5.7 years), skeletal muscle mass, biceps brachii thickness, vastus lateralis anatomical cross-sectional area (VLACSA), hand grip strength (HGS), and elbow flexion (MVCEF) and knee extension (MVCKE) maximum voluntary contraction were measured. Participants were classified as having low muscle mass if the skeletal muscle index (SMI) < 6.76 kg/m2 or relative skeletal muscle mass (%SMMr) < 22.1%. Genotyping was completed for 24 single-nucleotide polymorphisms (SNPs). GPSTOTAL was calculated from 23 SNPs and compared between the low and high muscle mass groups. A GPSDD was performed to identify the association of SNPs with other skeletal muscle phenotypes.ResultsThere was no significant difference in GPSTOTAL between low and high muscle mass groups, irrespective of classification based on SMI or %SMMr. The GPSDD model, using 23 selected SNPs, revealed that 13 SNPs were associated with at least one skeletal muscle phenotype: HIF1A rs11549465 was associated with four phenotypes and, in descending number of phenotype associations, ACE rs4341 with three; PTK2 rs7460 and CNTFR rs2070802 with two; and MTHFR rs17421511, ACVR1B rs10783485, CNTF rs1800169, MTHFR rs1801131, MTHFR rs1537516, TRHR rs7832552, MSTN rs1805086, COL1A1 rs1800012, and FTO rs9939609 with one phenotype. The GPSDD with age included as a predictor variable explained 1.7% variance of biceps brachii thickness, 12.5% of VLACSA, 19.0% of HGS, 8.2% of MVCEF, and 9.6% of MVCKE.ConclusionsIn older women, GPSTOTAL did not differ between low and high muscle mass groups. However, GPSDD was associated with muscle size and strength phenotypes. Further advancement of polygenic models to understand skeletal muscle function during ageing might become useful in targeting interventions towards older adults most likely to lose physical independence.

Project description:Increasing age is accompanied by many changes, including declining functional skeletal muscle health and immune dysfunction. Peripheral blood mononuclear cells (PBMCs) are circulating cells that assemble an immune response, but their whole genome transcriptome has not been studied in the context of age-related muscle health. Consequently, this article explored associations between three muscle variables indicative of functional muscle health - maximum handgrip strength (muscle strength), appendicular skeletal muscle mass index (ASMI, muscle mass), and gait speed (physical performance) - and two groups of bioinformatics-generated PBMC gene expression features (gene expression-estimated leukocyte subset proportions and gene clusters). We analyzed cross-sectional data from 95 home-dwelling healthy women ≥ 70 years, using "cell-type identification by estimating relative subsets of RNA transcripts" (CIBERSORT) to estimate leukocyte subset proportions and "weighted correlation network analysis" (WGCNA) to generate gene clusters. Associations were studied using linear regression models and relevant gene clusters were subjected to gene set enrichment analysis using gene ontology. Gait speed and ASMI associated with CIBERSORT-estimated monocyte proportions (β = - 0.090, 95% CI = (- 0.146, - 0.034), p-value = 0.002 for gait speed, and β = - 0.206, 95% CI = (- 0.385, - 0.028), p-value = 0.024 for ASMI), and gait speed associated with CIBERSORT-estimated M2 macrophage proportions (β = - 0.026, 95% CI = (- 0.043, - 0.008), p-value = 0.004). Furthermore, maximum handgrip strength associated with nine WGCNA gene clusters, enriched in processes related to immune function and skeletal muscle cells (β in the range - 0.007 to 0.008, p-values < 0.05). These results illustrate interactions between skeletal muscle and the immune system, supporting the notion that age-related functional muscle health and the immune system are closely linked.

Dataset Information

Association between polymorphisms in the TRHR gene, fat-free mass, and muscle strength in older women.

Publications

Association between polymorphisms in the TRHR gene, fat-free mass, and muscle strength in older women.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets