Endothelial Nitric Oxide Synthase (<i>NOS3</i>) +894 G&gt;T Associates with Physical Activity and Muscle Performance among Young Adults

Guidry, Margaux A.; Kostek, Matthew C.; Angelopoulos, Theodore J.; Clarkson, Priscilla M.; Gordon, Paul M.; Moyna, Niall M.; Visich, Paul S.; Zoeller, Robert F.; Thompson, Paul D.; Devaney, Joseph M.; Gordish‐Dressman, Heather; Hoffman, Eric P.; Pescatello, Linda S.

doi:10.5402/2012/901801

Cited by 4 publications

(3 citation statements)

References 46 publications

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“…Examples of structural genes include ACTN3 (actinin, alpha 3) [ 14 ] and BMP2 (bone morphogenetic protein 2) [ 15 ]; growth factors include GDF8 [growth differentiation factor 8 (myostatin, MSTN )] [ 20 ], FST (follistatin) [ 20 ], and IGF1 (insulin-like growth factor 1) [ 21 ]; and inflammatory factors include CCL2 [chemokine (C-C motif) ligand 2] [ 17 ], IL15 (Interleukin 15) [ 23 ], IL15R α (interleukin 15 receptor, alpha) [ 23 ], and SPP1 (osteopontin or secreted phosphoprotein 1) [ 18 ], among others. A few genes from other biological function families (mainly related to blood flow and angiogenesis) have also been investigated that include ACE (angiotensin I converting enzyme) [ 19 ] and NOS3 (nitric oxide synthase 3) [ 16 ].…”

Section: Famuss Findings: Muscle Strength and Sizementioning

confidence: 99%

“…For example, prescribing physical activity to reduce weight or maintain weight loss will be more effective if clinicians are able to create a unique prescription that targets the type or amount of physical activity an individual prefers to engage in based upon their genetic makeup. The vision is that such a personalized exercise prescription based upon this genetic information would facilitate physical activity adoption and adherence for that person [ 16 , 24 , 25 , 35 , 41 , 42 ]. Nonetheless, due to the significant challenges in identifying genes and their regulatory factors that may influence overweight and obesity and their interactions with physical activity, a personalized approach for the prescription of physical activity for the treatment of this major public health epidemic is not evident for the immediate future.…”

Section: Famuss Findings: Physical Activitymentioning

confidence: 99%

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Highlights from the Functional Single Nucleotide Polymorphisms Associated with Human Muscle Size and Strength or FAMuSS Study

Pescatello

Devaney

Hubal

et al. 2013

BioMed Research International

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The purpose of the Functional Single Nucleotide Polymorphisms Associated with Human Muscle Size and Strength study or FAMuSS was to identify genetic factors that dictated the response of health-related fitness phenotypes to resistance exercise training (RT). The phenotypes examined were baseline muscle strength and muscle, fat, and bone volume and their response to RT. FAMuSS participants were 1300 young (24 years), healthy men (42%) and women (58%) that were primarily of European-American descent. They were genotyped for ~500 polymorphisms and completed the Paffenbarger Physical Activity Questionnaire to assess energy expenditure and time spent in light, moderate, and vigorous intensity habitual physical activity and sitting. Subjects then performed a 12-week progressive, unilateral RT program of the nondominant arm with the dominant arm used as a comparison. Before and after RT, muscle strength was measured with the maximum voluntary contraction and one repetition maximum, while MRI measured muscle, fat, and bone volume. We will discuss the history of how FAMuSS originated, provide a brief overview of the FAMuSS methods, and summarize our major findings regarding genotype associations with muscle strength and size, body composition, cardiometabolic biomarkers, and physical activity.

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Section: Famuss Findings: Muscle Strength and Sizementioning

confidence: 99%

Section: Famuss Findings: Physical Activitymentioning

confidence: 99%

Highlights from the Functional Single Nucleotide Polymorphisms Associated with Human Muscle Size and Strength or FAMuSS Study

Pescatello

Devaney

Hubal

et al. 2013

BioMed Research International

Self Cite

View full text Add to dashboard Cite

show abstract

“…Despite the fact that higher NO activity has been associated with the NOS3 rs1799983 G-allele [75,76], our present observation is in line with other studies reporting T-allele as beneficial for skeletal muscle function/performance. For instance, T-allele has been identified as favourable in some athletes [77,78], associated with adaptation to resistance training [79] and beneficial for maintaining normal muscle mass above the sarcopenic threshold [36].…”

Section: Transcriptional Regulatorsmentioning

confidence: 99%

The Association of Multiple Gene Variants with Ageing Skeletal Muscle Phenotypes in Elderly Women

Khanal

Herbert

et al. 2020

Genes

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There is a scarcity of studies that have investigated the role of multiple single nucleotide polymorphisms (SNPs) on a range of muscle phenotypes in an elderly population. The present study investigated the possible association of 24 SNPs with skeletal muscle phenotypes in 307 elderly Caucasian women (aged 60–91 years, 66.3 ± 11.3 kg). Skeletal muscle phenotypes included biceps brachii thickness, vastus lateralis cross-sectional areas, maximal hand grip strength, isometric knee extension and elbow flexion torque. Genotyping for 24 SNPs, chosen on their skeletal muscle structural or functional links, was conducted on DNA extracted from blood or saliva. Of the 24 SNPs, 10 were associated with at least one skeletal muscle phenotype. HIF1A rs11549465 was associated with three skeletal muscle phenotypes and PTK2 rs7460 and ACVR1B rs10783485 were each associated with two phenotypes. PTK2 rs7843014, COL1A1 rs1800012, CNTF rs1800169, NOS3 rs1799983, MSTN rs1805086, TRHR rs7832552 and FTO rs9939609 were each associated with one. Elderly women possessing favourable genotypes were 3.6–13.2% stronger and had 4.6–14.7% larger muscle than those with less favourable genotypes. These associations, together with future work involving a broader range of SNPs, may help identify individuals at particular risk of an age-associated loss of independence.

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Prevalence and association of single nucleotide polymorphisms with sarcopenia in older women depends on definition

Khanal

Stebbings

et al. 2020

Sci Rep

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The prevalence of sarcopenia depends on the definition used. There are, however, consistent sarcopenic characteristics, including a low muscle mass and muscle strength. Few studies have investigated the relationship between sarcopenia and genotype. A cross-sectional study was conducted with 307 community-dwelling ≥60-year-old women in South Cheshire, UK. Handgrip strength was assessed with a handgrip dynamometer and skeletal muscle mass was estimated using bioelectrical impedance. DNA was extracted from saliva (∼38%) or blood (∼62%) and 24 single-nucleotide polymorphisms (SNPs) were genotyped. Three established sarcopenia definitions -%Skeletal Muscle Mass (%SMM), Skeletal Muscle Mass Index (SMI) and European Working Group on Sarcopenia in Older People (EWGSOP) -were used to assess sarcopenia prevalence. Binary logistic regression with age as covariate was used to identify SNPs associated with sarcopenia. The prevalence of sarcopenia was: %SMM 14.7%, SMI 60.6% and EWGSOP 1.3%. Four SNPs were associated with the %SMM and SMI definitions of sarcopenia; FTO rs9939609, ESR1 rs4870044, NOS3 rs1799983 and TRHR rs7832552. The first three were associated with the %SMM definition, and TRHR rs7832552 with the SMI definition, but none were common to both sarcopenia definitions. The gene variants associated with sarcopenia may help proper counselling and interventions to prevent individuals from developing sarcopenia.Sarcopenia is defined as an ageing-related loss of both muscle mass and strength below a threshold level 1 . It is an important predictor of adverse outcomes such as limited mobility, increased risk of falls, decreased quality of life (QoL), hospitalization and mortality, and contributes to tens of millions of pounds of health care costs in the UK 1-3 . Although muscle weakness and skeletal muscle atrophy are overt characteristics of this geriatric syndrome, there is ongoing debate on the operational definition, screening and diagnosis, and optimal management and treatment of the condition 1,4-6 . The considerable heterogeneity in the reported prevalence of sarcopenia is largely attributable to the different definitions or cut-offs used 7-9 .The fact that some elderly do not show sarcopenia, whilst others of the same age do 10,11 , suggests that some individuals are more susceptible to sarcopenia than others. The different susceptibility is likely due to a combination of factors including physical activity, diet, sedentary behaviour and genetics [12][13][14][15] . Several studies have reported an association of single nucleotide polymorphisms (SNPs) with lean mass, muscle volume and muscle strength [16][17][18] . It is thus possible that individuals carrying favourable gene variants are less susceptible to sarcopenia and hence can maintain independence until later life. To date, five studies have investigated the association of SNPs with sarcopenia; limited to VDR, IL6, ACTN3 and MSTN polymorphisms [19][20][21][22][23] . The studies identified an association of ACTN3 and VDR gene variants with sarcopenia, but di...

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Endothelial Nitric Oxide Synthase (NOS3) +894 G>T Associates with Physical Activity and Muscle Performance among Young Adults

Cited by 4 publications

References 46 publications

Highlights from the Functional Single Nucleotide Polymorphisms Associated with Human Muscle Size and Strength or FAMuSS Study

Highlights from the Functional Single Nucleotide Polymorphisms Associated with Human Muscle Size and Strength or FAMuSS Study

The Association of Multiple Gene Variants with Ageing Skeletal Muscle Phenotypes in Elderly Women

Prevalence and association of single nucleotide polymorphisms with sarcopenia in older women depends on definition

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