CK-MM Polymorphism is Associated With Physical Fitness Test Scores in Military Recruits

Sprouse, Courtney; Tosi, Laura L.; Gordish‐Dressman, Heather; Abdel-Ghani, Mai; Panchapakesan, Karuna; Niederberger, Brenda; Devaney, Joseph M.; Kelly, Karen R.

doi:10.7205/milmed-d-14-00331

Cited by 3 publications

(3 citation statements)

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“…A growing body of evidence supports an association of the rs8111989 AA and GG genotypes with endurance and strength phenotypes, respectively [12,17,21,22,[25][26][27][28]. However, a tendency for G allele carriers to achieve higher maximum oxygen uptake values has been reported [27], and several studies (together with the present study) have failed to detect any association with athlete status or performance [8][9][10]13,23].…”

Section: Discussionmentioning

confidence: 47%

CKM Gene rs8111989 Polymorphism and Power Athlete Status

Ginevičienė

Jakaitienė

Utkus

et al. 2021

Genes

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Multiple genetic variants are known to influence athletic performance. These include polymorphisms of the muscle-specific creatine kinase (CKM) gene, which have been associated with endurance and/or power phenotypes. However, independent replication is required to support those findings. The aim of the present study was to determine whether the CKM (rs8111989, c.*800A>G) polymorphism is associated with power athlete status in professional Russian and Lithuanian competitors. Genomic DNA was collected from 693 national and international standard athletes from Russia (n = 458) and Lithuania (n = 235), and 500 healthy non-athlete subjects from Russia (n = 291) and Lithuania (n = 209). Genotyping for the CKM rs8111989 (A/G) polymorphism was performed using PCR or micro-array analysis. Genotype and allele frequencies were compared between all athletes and non-athletes, and between non-athletes and athletes, segregated according to population and sporting discipline (from anaerobic-type events). No statistically significant differences in genotype or allele frequencies were observed between non-athletes and power athletes (strength-, sprint- and speed/strength-oriented) athletes. The present study reports the non-association of the CKM rs8111989 with elite status in athletes from sports in which anaerobic energy pathways determine success.

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Section: Discussionmentioning

confidence: 47%

CKM Gene rs8111989 Polymorphism and Power Athlete Status

Ginevičienė

Jakaitienė

Utkus

et al. 2021

Genes

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“… 24 , 25 CKM is believed to play an indispensable role in maintaining energy homeostasis by providing a stable supply of creatine phosphate, which is essential for maintaining the Ca 2+ -ATPase channel in the sarcoplasmic reticulum. 26 More than 90% of the CKM in circulation is derived from human skeletal muscle; therefore, as a biomarker of skeletal muscle protein metabolism, it can be used to measure the rate of tissue protein synthesis. 27 FITM1 belongs to an evolutionarily conserved family of proteins and is involved in fat storage.…”

Section: Discussionmentioning

confidence: 99%

Plasma Proteomics Study Between the Frequent Exacerbation and Infrequent Exacerbation Phenotypes of Chronic Obstructive Pulmonary Disease

Yang¹,

Li²,

Yang³

et al. 2023

COPD

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Background Frequent exacerbation (FE) and infrequent exacerbation (IE) are two phenotypes of chronic obstructive pulmonary disease (COPD), of which FE is associated with a higher incidence of exacerbation and a serious threat to human health. Because the pathogenesis mechanisms of FE are unclear, this study aims to identify FE-related proteins in the plasma via proteomics for use as predictive, diagnostic, and therapeutic biomarkers of COPD. Methods A cross-sectional study was conducted in which plasma protein profiles were analyzed in COPD patients at stable stage, and differentially expressed proteins (DEPs) were screened out between the FE and IE patients. FE-related DEPs were identified using data-independent acquisition-based proteomics and bioinformatics analyses. In addition, FE-related candidates were verified by enzyme-linked immunosorbent assay. Results In this study, 47 DEPs were screened out between the FE and IE groups, including 20 upregulated and 27 downregulated proteins. Key biological functions (eg, neutrophil degranulation, extracellular exosome, protein homodimerization activity) and signaling pathways (eg, arginine and proline metabolism) were enriched in association with the FE phenotype. Receiver operating characteristic (ROC) analysis of the 11 combined DEPs revealed an area under the curve of 0.985 ( p <0.05) for discriminating FE from IE. Moreover, correlation and ROC curve analyses indicated that creatine kinase, M-type (CKM) and fat storage-inducing transmembrane protein 1 (FITM1) might be clinically significant in patients with the FE phenotype. In addition, plasma expression levels of CKM and FITM1 were validated to be significantly decreased in the FE group compared with the IE group (CKM: p <0.01; FITM1: p <0.05). Conclusion In this study, novel insights into COPD pathogenesis were provided by investigating and comparing plasma protein profiles between the FE and IE patients. CKM, FITM1, and a combinative biomarker panel may serve as useful tools for assisting in the precision diagnosis and effective treatment of the FE phenotype of COPD.

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“…A allele and AA genotype were significantly higher in endurance athletes and were associated with high values of VO 2max [17]. Physical fitness test scores in military recruits were also associated with A allele [18]. eNOS Glu(G)298Arg(T) (endothelial nitric oxide gene, location: 7q36) polymorphism is linked with endurance performance and endurance elite status [19, 20].…”

Section: Introductionmentioning

confidence: 99%

Polygenic study of endurance-associated genetic markers ACE I/D, ACTN3 Arg(R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T) in male Gorkha soldiers

et al. 2017

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BackgroundGorkhas, a sub-mountainous population of the Himalayan region, are known for strength and bravery. In the present study when “Gorkha” is used without brackets, we are mentioning Gorkhas of Tibeto-Burman origin. Physical capability, strength and endurance are important components of fitness associated with genetic traits. The aim of this study was to examine the endurance potential of male Gorkha soldiers, based on endurance-related genetic markers ACE I/D, ACTN3 Arg (R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T).MethodsGenotypic and allelic frequencies were determined in 374 male Gorkha soldiers (Tibeto-Burman). These frequencies were compared with frequencies obtained from Gorkha (Indo-Aryan), high-altitude natives (Tibeto-Burman) and Indian lowlanders (Indo-Aryan). “Total genotype score” (TGS) was calculated from accumulated combination of polymorphisms with maximum value “100” for theoretically “optimal” polygenic score. Probability of occurrence of “optimal” endurance profile was also determined.Results ACE II genotypic frequency was highest in Tamangs followed by Gurungs, Rais, Limbus and Magars. No statistical difference in genotypic and allelic frequency of ACTN3 Arg(R)577Ter(X) was noted within the groups. Rais showed the highest CKMM A allele frequency (0.908) compared to other Gorkha (Tibeto-Burman) groups. Limbus and Tamangs showed the highest eNOS G allele frequency (0.938 and 0.915, respectively) compared to that of other groups. Probability of male Gorkha soldiers possessing a theoretically optimal polygenic endurance profile for four candidate polymorphisms was ~3.35% (1 in 30). Four percent of the population of male Gorkha soldiers (15 in 374) exhibited an optimal TGS 100, and 16% exhibited TGS 87 for endurance compared to male Indian soldiers belonging to the lowland (Indo-Aryan) and Gorkha (Indo-Aryan) populations suggesting an overall more “favourable” polygenic profile in the male Gorkha soldier (Tibeto-Burman) population.ConclusionsThis study presents evidence of higher frequency of endurance-associated genes in the Gorkhas implying thereby that such genetically endowed individuals from the population may be selected and trained for achieving excellence in endurance-related elite sports activities.Electronic supplementary materialThe online version of this article (doi:10.1186/s40798-017-0085-0) contains supplementary material, which is available to authorized users.

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CK-MM Polymorphism is Associated With Physical Fitness Test Scores in Military Recruits

Abstract: These results demonstrate an association between physical performance measures and genetic variation in the muscle-specific creatine kinase gene (rs8111989).

Cited by 3 publications

References 15 publications

CKM Gene rs8111989 Polymorphism and Power Athlete Status

CKM Gene rs8111989 Polymorphism and Power Athlete Status

Plasma Proteomics Study Between the Frequent Exacerbation and Infrequent Exacerbation Phenotypes of Chronic Obstructive Pulmonary Disease

Polygenic study of endurance-associated genetic markers ACE I/D, ACTN3 Arg(R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T) in male Gorkha soldiers

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