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1دورية أكاديمية
المؤلفون: Oskolkov, N., Santel, M., Parikh, H., Ekström, O., Camp, J., Miyamoto-Mikami, E., Ström, K., Mir, B., Kryvokhyzha, D., Lehtovirta, M., Kobayashi, H., Kakigi, R., Naito, H., Eriksson, K., Nystedt, B., Fuku, N., Treutlein, B., Pääbo, S., Hansson, O.
المصدر: Skeletal Muscle
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-000A-B8D2-9Test; http://hdl.handle.net/21.11116/0000-000A-B8D4-7Test
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2دورية أكاديمية
المؤلفون: Semenova, EA, Zempo, H, Miyamoto-Mikami, E, Kumagai, H, Larin, AK, Sultanov, RI, Babalyan, KA, Zhelankin, AV, Tobina, T, Shiose, K, Kakigi, R, Tsuzuki, T, Ichinoseki-Sekine, N, Kobayashi, H, Naito, H, Burniston, J, Generozov, EV, Fuku, N, Ahmetov, II
مصطلحات موضوعية: QH426 Genetics, R Medicine (General)
الوصف: Muscle fiber composition is associated with physical performance, with endurance athletes having a high proportion of slow-twitch muscle fibers compared to power athletes. Approximately 45% of muscle fiber composition is heritable, however, single nucleotide polymorphisms (SNP) underlying inter-individual differences in muscle fiber types remain largely unknown. Based on three whole genome SNP datasets, we have shown that the rs236448 A allele located near the cyclin-dependent kinase inhibitor 1A (CDKN1A) gene was associated with an increased proportion of slow-twitch muscle fibers in Russian (n = 151; p = 0.039), Finnish (n = 287; p = 0.03), and Japanese (n = 207; p = 0.008) cohorts (meta-analysis: p = 7.9 × 10-5. Furthermore, the frequency of the rs236448 A allele was significantly higher in Russian (p = 0.045) and Japanese (p = 0.038) elite endurance athletes compared to ethnically matched power athletes. On the contrary, the C allele was associated with a greater proportion of fast-twitch muscle fibers and a predisposition to power sports. CDKN1A participates in cell cycle regulation and is suppressed by the miR-208b, which has a prominent role in the activation of the slow myofiber gene program. Bioinformatic analysis revealed that the rs236448 C allele was associated with increased CDKN1A expression in whole blood (p = 8.5 × 10-15) and with greater appendicular lean mass (p = 1.2 × 10-5), whereas the A allele was associated with longer durations of exercise (p = 0.044) reported amongst the UK Biobank cohort. Furthermore, the expression of CDKN1A increased in response to strength (p < 0.0001) or sprint (p = 0.00035) training. Accordingly, we found that CDKN1A expression is significantly (p = 0.002) higher in the m. vastus lateralis of strength athletes compared to endurance athletes and is positively correlated with the percentage of fast-twitch muscle fibers (p = 0.018). In conclusion, our data suggest that the CDKN1A rs236448 SNP may be implicated in the determination of muscle fiber composition and ...
وصف الملف: text
العلاقة: https://researchonline.ljmu.ac.uk/id/eprint/18416/1/Genome-Wide%20Association%20Study%20Identifies%20CDKN1A%20as%20a%20Novel%20Locus%20Associated%20with%20Muscle%20Fiber%20Composition.pdfTest; Semenova, EA, Zempo, H, Miyamoto-Mikami, E, Kumagai, H, Larin, AK, Sultanov, RI, Babalyan, KA, Zhelankin, AV, Tobina, T, Shiose, K, Kakigi, R, Tsuzuki, T, Ichinoseki-Sekine, N, Kobayashi, H, Naito, H, Burniston, J, Generozov, EV, Fuku, N and Ahmetov, II (2022) Genome-Wide Association Study Identifies CDKN1A as a Novel Locus Associated with Muscle Fiber Composition. Cells, 11 (23). ISSN 2073-4409
الإتاحة: https://doi.org/10.3390/cells11233910Test
http://researchonline.ljmu.ac.uk/id/eprint/18416Test/
https://researchonline.ljmu.ac.uk/id/eprint/18416/1/Genome-Wide%20Association%20Study%20Identifies%20CDKN1A%20as%20a%20Novel%20Locus%20Associated%20with%20Muscle%20Fiber%20Composition.pdfTest -
3دورية أكاديمية
المؤلفون: Al-Khelaifi, F, Yousri, NA, Diboun, I, Semenova, EA, Kostryukova, ES, Kulemin, NA, Borisov, OV, Andryushchenko, LB, Larin, AK, Generozov, EV, Miyamoto-Mikami, E, Murakami, H, Zempo, H, Miyachi, M, Takaragawa, M, Kumagai, H, Naito, H, Fuku, N, Abraham, D, Hingorani, A, Donati, F, Botre, F, Georgakopoulos, C, Suhre, K, Ahmetov, II, Albagha, O, Elrayess, MA
مصطلحات موضوعية: RC1200 Sports Medicine
الوصف: Background: The genetic predisposition to elite athletic performance has been a controversial subject due to the underpowered studies and the small effect size of identified genetic variants. The aims of this study were to investigate the association of common single-nucleotide polymorphisms (SNPs) with endurance athlete status in a large cohort of elite European athletes using GWAS approach, followed by replication studies in Russian and Japanese elite athletes and functional validation using metabolomics analysis. Results: The association of 476,728 SNPs of Illumina DrugCore Gene chip and endurance athlete status was investigated in 796 European international-level athletes (645 males, 151 females) by comparing allelic frequencies between athletes specialized in sports with high (n = 662) and low/moderate (n = 134) aerobic component. Replication of results was performed by comparing the frequencies of the most significant SNPs between 242 and 168 elite Russian high and low/moderate aerobic athletes, respectively, and between 60 elite Japanese endurance athletes and 406 controls. A meta-analysis has identified rs1052373 (GG homozygotes) in Myosin Binding Protein (MYBPC3; implicated in cardiac hypertrophic myopathy) gene to be associated with endurance athlete status (P = 1.43 × 10−8, odd ratio 2.2). Homozygotes carriers of rs1052373 G allele in Russian athletes had significantly greater VO2max than carriers of the AA + AG (P = 0.005). Subsequent metabolomics analysis revealed several amino acids and lipids associated with rs1052373 G allele (1.82 × 10–05) including the testosterone precursor androstenediol (3beta,17beta) disulfate. Conclusions: This is the first report of genome-wide significant SNP and related metabolites associated with elite athlete status. Further investigations of the functional relevance of the identified SNPs and metabolites in relation to enhanced athletic performance are warranted.
وصف الملف: text
العلاقة: https://researchonline.ljmu.ac.uk/id/eprint/23053/1/Genome-Wide%20Association%20Study%20Reveals%20a%20Novel%20Association%20Between%20MYBPC3%20Gene%20Polymorphism,%20Endurance%20Athlete%20Status,%20Aerobi.pdfTest; Al-Khelaifi, F, Yousri, NA, Diboun, I, Semenova, EA, Kostryukova, ES, Kulemin, NA, Borisov, OV, Andryushchenko, LB, Larin, AK, Generozov, EV, Miyamoto-Mikami, E, Murakami, H, Zempo, H, Miyachi, M, Takaragawa, M, Kumagai, H, Naito, H, Fuku, N, Abraham, D, Hingorani, A, Donati, F, Botre, F, Georgakopoulos, C, Suhre, K, Ahmetov, II, Albagha, O and Elrayess, MA (2020) Genome-Wide Association Study Reveals a Novel Association Between MYBPC3 Gene Polymorphism, Endurance Athlete Status, Aerobic Capacity and Steroid Metabolism. FRONTIERS IN GENETICS, 11. ISSN 1664-8021
الإتاحة: https://doi.org/10.3389/fgene.2020.00595Test
http://researchonline.ljmu.ac.uk/id/eprint/23053Test/
https://researchonline.ljmu.ac.uk/id/eprint/23053/1/Genome-Wide%20Association%20Study%20Reveals%20a%20Novel%20Association%20Between%20MYBPC3%20Gene%20Polymorphism,%20Endurance%20Athlete%20Status,%20Aerobi.pdfTest -
4دورية أكاديمية
المؤلفون: Semenova, EA, Miyamoto-Mikami, E, Akimov, EB, Al-Khelaifi, F, Murakami, H, Zempo, H, Kostryukova, ES, Kulemin, NA, Larin, AK, Borisov, OV, Miyachi, M, Popov, DV, Boulygina, EA, Takaragawa, M, Kumagai, H, Naito, H, Pushkarev, VP, Dyatlov, DA, Lekontsev, EV, Pushkareva, YE, Andryushchenko, LB, Elrayess, MA, Generozov, EV, Fuku, N, Ahmetov, II
مصطلحات موضوعية: RC1200 Sports Medicine
الوصف: PURPOSE: Iron is an important component of the oxygen-binding proteins and may be critical to optimal athletic performance. Previous studies have suggested that the G allele of C/G rare variant (rs1799945), which causes H63D amino acid replacement, in the HFE is associated with elevated iron indexes and may give some advantage in endurance-oriented sports. The aim of the present study was to investigate the association between the HFE H63D polymorphism and elite endurance athlete status in Japanese and Russian populations, aerobic capacity and to perform a meta-analysis using current findings and three previous studies. METHODS: The study involved 315 international-level endurance athletes (255 Russian and 60 Japanese) and 809 healthy controls (405 Russian and 404 Japanese). Genotyping was performed using micro-array analysis or by PCR. VO2max in 46 male Russian endurance athletes was determined using gas analysis system. RESULTS: The frequency of the iron-increasing CG/GG genotypes was significantly higher in Russian (38.0 vs 24.9%; OR 1.85, P = 0.0003) and Japanese (13.3 vs 5.0%; OR 2.95, P = 0.011) endurance athletes compared to ethnically matched controls. The meta-analysis using five cohorts (two French, Japanese, Spanish, and Russian; 586 athletes and 1416 controls) showed significant prevalence of the CG/GG genotypes in endurance athletes compared to controls (OR 1.96, 95% CI 1.58-2.45; P = 1.7 × 10-9). Furthermore, the HFE G allele was associated with high V̇O2max in male athletes [CC: 61.8 (6.1), CG/GG: 66.3 (7.8) ml/min/kg; P = 0.036]. CONCLUSIONS: We have shown that the HFE H63D polymorphism is strongly associated with elite endurance athlete status, regardless ethnicities and aerobic capacity in Russian athletes.
وصف الملف: text
العلاقة: https://researchonline.ljmu.ac.uk/id/eprint/12138/4/The%20association%20of%20HFE%20gene%20H63D%20polymorphism%20with%20endurance%20athlete%20status%20and%20aerobic%20capacity%20novel%20findings%20and%20a%20meta-analysis.pdfTest; Semenova, EA, Miyamoto-Mikami, E, Akimov, EB, Al-Khelaifi, F, Murakami, H, Zempo, H, Kostryukova, ES, Kulemin, NA, Larin, AK, Borisov, OV, Miyachi, M, Popov, DV, Boulygina, EA, Takaragawa, M, Kumagai, H, Naito, H, Pushkarev, VP, Dyatlov, DA, Lekontsev, EV, Pushkareva, YE, Andryushchenko, LB, Elrayess, MA, Generozov, EV, Fuku, N and Ahmetov, II (2020) The association of HFE gene H63D polymorphism with endurance athlete status and aerobic capacity: novel findings and a meta-analysis. European Journal of Applied Physiology. ISSN 1439-6327
الإتاحة: https://doi.org/10.1007/s00421-020-04306-8Test
http://researchonline.ljmu.ac.uk/id/eprint/12138Test/
https://researchonline.ljmu.ac.uk/id/eprint/12138/4/The%20association%20of%20HFE%20gene%20H63D%20polymorphism%20with%20endurance%20athlete%20status%20and%20aerobic%20capacity%20novel%20findings%20and%20a%20meta-analysis.pdfTest -
5دورية أكاديمية
المؤلفون: Willems, SM, Wright, DJ, Day, FR, Trajanoska, Katerina, Joshi, PK, Morris, JA, Matteini, A M, Garton, FC, Grarup, N, Oskolkov, N, Thalamuthu, A, Mangino, M, Liu, Jun, Demirkan, Ayse, Lek, M, Xu, LW, Wang, G, Oldmeadow, C, Gaulton, KJ, Lotta, LA, Miyamoto-Mikami, E, Rivas, MA, White, T, Loh, PR, Aadahl, M, Amin, Najaf, Attia, JR, Austin, K, Benyamin, B, Brage, S, Cheng, YC, Cieszczyk, P, Derave, W, Eriksson, KF, Eynon, N, Linneberg, A, Lucia, A, Massidda, M, Mitchell, BD, Miyachi, M, Murakami, H, Padmanabhan, S, Pandey, A, Papadimitriou, L, Rajpal, DK, Sale, C, Schnurr, TM, Sessa, F, Shrine, N, Tobin, MD, Varley, I, Wain, LV, Wray, NR, Lindgren, CM, MacArthur, DG, Waterworth, DM, McCarthy, MI, Pedersen, O, Khaw, KT, Kie, DP, Pitsiladis, Y, Fuku, N, Franks, PW, North, KN, Duijn, Cornelia, Mather, KA, Hansen, T, Hansson, O, Spector, T, Murabito, JM, Richards, JB, Rivadeneira, Fernando, Langenberg, C, Perry, JRB, Wareham, NJ, Scott, RA
المصدر: Willems , SM , Wright , DJ , Day , FR , Trajanoska , K , Joshi , PK , Morris , JA , Matteini , A M , Garton , FC , Grarup , N , Oskolkov , N , Thalamuthu , A , Mangino , M , Liu , J , Demirkan , A , Lek , M , Xu , LW , Wang , G , Oldmeadow , C , Gaulton , KJ , Lotta , LA , Miyamoto-Mikami , E , Rivas , MA , White , T , Loh , PR , Aadahl , ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1038/ncomms16015Test
https://pure.eur.nl/en/publications/e56ba053-bb14-44dc-8c8d-cd5237eff1e3Test
https://pure.eur.nl/ws/files/47821086/ncomms16015.pdfTest
http://hdl.handle.net/1765/100892Test -
6دورية أكاديمية
المؤلفون: Aibast, H., Okutoyi, P., Sigei, T., Adero, W., Chemjor, D., Ongaro, N., Fuku, N., Konstabel, K., Clark, Carol J., Lieberman, D.E., Pitsiladis, Y.
الوصف: Habitually barefoot (HB) children from the Kalenjin tribe of Kenya are known for their high physical activity levels. To date, there has been no comprehensive assessment of foot structure and function in these highly active and HB children/adolescents and link with overuse injuries. PURPOSE: The aim of this research is to assess foot structure, foot function, injury and physical activity levels in Kenyan children and adolescents who are HB compared with those who were habitually shod (HS). METHODS: Foot structure, function, injury prevalence, and physical activity levels were studied using two studies with equal numbers of HS and HB. HS and HB children and adolescents were matched for age, sex, and body mass. Foot arch characteristics, foot strength, and lower-limb injury prevalence were investigated in Study 1 (n = 76). Heel bone stiffness, Achilles tendon moment arm length and physical activity levels in Study 2 (n=62). Foot muscle strength was measured using a strength device TKK 3360 and heel bone stiffness by bone ultrasonometry. The moment arm length of the Achilles tendon was estimated from photographs and physical activity was assessed using questionnaires and accelerometers. RESULTS: Foot shortening strength was greater in HB (4.8 ± 1.9 kg vs 3.5 ± 1.8 kg, P < 0.01). Navicular drop was greater in HB (0.53 ± 0.32 cm vs 0.39 ± 0.19 cm, P < 0.05). Calcaneus stiffness index was greater (right 113.5 ± 17.1 vs 100.5 ± 116.8, P < 0.01 left 109.8 ± 15.7 vs 101.7 ± 18.7, P < 0.05) and Achilles tendon moment arm shorter in HB (right, 3.4 ± 0.4 vs 3.6 ± 0.4 cm, P < 0.05; left, 3.4 ± 0.5 vs 3.7 ± 0.4 cm, P < 0.01). Lower-limb injury prevalence was 8% in HB and 61% in HS. HB subjects spent more time engaged in moderate to vigorous physical activity (60 ± 26 min·d vs 31 ± 13 min·d; P < 0.001). CONCLUSIONS: Significant differences observed in foot parameters, injury prevalence and general foot health between HB and HS suggest that footwear conditions may impact on foot structure and function and ...
وصف الملف: application/pdf
العلاقة: https://eprints.bournemouth.ac.uk/30086/1/Foot%20Structure%20AAM.pdfTest; Aibast, H., Okutoyi, P., Sigei, T., Adero, W., Chemjor, D., Ongaro, N., Fuku, N., Konstabel, K., Clark, C. J., Lieberman, D.E. and Pitsiladis, Y., 2017. Foot Structure and Function in Habitually Barefoot and Shod Adolescents in Kenya. Current Sports Medicine Reports, 16 (6), 448 - 458.
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7دورية أكاديمية
المؤلفون: Yvert, TP, Zempo, H, Gabdrakhmanova, LJ, Kikuchi, N, Miyamoto-Mikami, E, Murakami, H, Naito, H, Cieszczyk, P, Leznicka, K, Kostryukova, ES, Alexeev, DG, Egorova, ES, Maciejewska-Skrendo, A, Larin, AK, Generozov, EV, Kulemin, NA, Ospanova, EA, Pavlenko, AV, Sawczuk, M, Zmijewski, P, Lulinska-Kuklik, E, Govorun, VM, Miyachi, M, Ahmetov, II, Fuku, N
مصطلحات موضوعية: RC1200 Sports Medicine
الوصف: We aimed to replicate, in a specific athletic event cohort (only track and field) and in two different ethnicities (Japanese and East European, i.e. Russian and Polish), original findings showing the association of the angiotensin-II receptor type-2 gene (AGTR2) rs11091046 A>C polymorphism with athlete status. We compared genotypic frequencies of the AGTR2 rs11091046 polymorphism among 282 track and field sprint/ power athletes (200 men and 82 women), including several national record holders and Olympic medallists (214 Japanese, 68 Russian and Polish), and 2024 control subjects (842 men and 1182 women) (804 Japanese, 1220 Russian and Polish). In men, a meta-analysis from the two combined cohorts showed a significantly higher frequency of the C allele in athletes than in controls (odds ratio: 1.62, P=0.008, heterogeneity index I 2 =0%). With regard to respective cohorts, C allele frequency was higher in Japanese male athletes than in controls (67.7% vs. 55.9%, P=0.022), but not in Russian/Polish male athletes (61.9% vs. 51.0%, P=0.172). In women, no significant results were obtained by meta-analysis for the two cohorts combination (P=0.850). The AC genotype frequency was significantly higher in Russian/Polish women athletes than in controls (69.2% vs. 42.1%, P=0.022), but not in Japanese women athletes (P=0.226). Our results, in contrast to previous findings, suggested by meta-analysis that the C allele of the AGTR2 rs11091046 polymorphism is associated with sprint/ power track and field athlete status in men, but not in women.
وصف الملف: text
العلاقة: https://researchonline.ljmu.ac.uk/id/eprint/12149/1/AGTR2%20and%20sprint%20power%20performance%20a%20case-control%20replication%20study%20for%20rs11091046%20polymorphism%20in%20two%20ethnicities.pdfTest; Yvert, TP, Zempo, H, Gabdrakhmanova, LJ, Kikuchi, N, Miyamoto-Mikami, E, Murakami, H, Naito, H, Cieszczyk, P, Leznicka, K, Kostryukova, ES, Alexeev, DG, Egorova, ES, Maciejewska-Skrendo, A, Larin, AK, Generozov, EV, Kulemin, NA, Ospanova, EA, Pavlenko, AV, Sawczuk, M, Zmijewski, P, Lulinska-Kuklik, E, Govorun, VM, Miyachi, M, Ahmetov, II and Fuku, N (2017) AGTR2 and sprint/power performance: a case-control replication study for rs11091046 polymorphism in two ethnicities. Biology of Sport, 35 (2). ISSN 0860-021X
الإتاحة: https://doi.org/10.5114/biolsport.2018.71599Test
http://researchonline.ljmu.ac.uk/id/eprint/12149Test/
https://researchonline.ljmu.ac.uk/id/eprint/12149/1/AGTR2%20and%20sprint%20power%20performance%20a%20case-control%20replication%20study%20for%20rs11091046%20polymorphism%20in%20two%20ethnicities.pdfTest -
8دورية أكاديمية
المؤلفون: Wang, G., Durussel, J., Shurlock, J., Mooses, M., Fuku, N., Bruinvels, G., Pedlar, C., Burden, R., Murray, A., Yee, B., Keenan, A., McClure, J.D., Sottas, P-E., Pitsiladis, Y.P.
الوصف: BACKGROUND: Recombinant human erythropoietin (rHuEpo) can improve human performance and is therefore frequently abused by athletes. As a result, the World Anti-Doping Agency (WADA) introduced the Athlete Biological Passport (ABP) as an indirect method to detect blood doping. Despite this progress, challenges remain to detect blood manipulations such as the use of microdoses of rHuEpo. METHODS: Forty-five whole-blood transcriptional markers of rHuEpo previously derived from a high-dose rHuEpo administration trial were used to assess whether microdoses of rHuEpo could be detected in 14 trained subjects and whether these markers may be confounded by exercise (n = 14 trained subjects) and altitude training (n = 21 elite runners and n = 4 elite rowers, respectively). Differential gene expression analysis was carried out following normalisation and significance declared following application of a 5% false discovery rate (FDR) and a 1.5 fold-change. Adaptive model analysis was also applied to incorporate these markers for the detection of rHuEpo. RESULTS: ALAS2, BCL2L1, DCAF12, EPB42, GMPR, SELENBP1, SLC4A1, TMOD1 and TRIM58 were differentially expressed during and throughout the post phase of microdose rHuEpo administration. The CD247 and TRIM58 genes were significantly up- and down-regulated, respectively, immediately following exercise when compared with the baseline both before and after rHuEpo/placebo. No significant gene expression changes were found 30 min after exercise in either rHuEpo or placebo groups. ALAS2, BCL2L1, DCAF12, SLC4A1, TMOD1 and TRIM58 tended to be significantly expressed in the elite runners ten days after arriving at altitude and one week after returning from altitude (FDR > 0.059, fold-change varying from 1.39 to 1.63). Following application of the adaptive model, 15 genes showed a high sensitivity (≥ 93%) and specificity (≥ 71%), with BCL2L1 and CSDA having the highest sensitivity (93%) and specificity (93%). CONCLUSIONS: Current results provide further evidence that transcriptional ...
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/124713/1/Validation%20of%20whole-blood%20transcriptome%20signature%20during%20microdose%20recombinant%20human%20erythropoietin%20%28rHuEpo%29%20administration.pdfTest; Wang, G., Durussel, J., Shurlock, J. et al. (11 more authors) (2017) Validation of whole-blood transcriptome signature during microdose recombinant human erythropoietin (rHuEpo) administration. BMC Genomics, 18 (Suppl 8). 817. ISSN 1471-2164
الإتاحة: https://doi.org/10.1186/s12864-017-4191-7Test
https://eprints.whiterose.ac.uk/124713Test/
https://eprints.whiterose.ac.uk/124713/1/Validation%20of%20whole-blood%20transcriptome%20signature%20during%20microdose%20recombinant%20human%20erythropoietin%20%28rHuEpo%29%20administration.pdfTest -
9دورية أكاديمية
المؤلفون: Pitsiladis, Y.P., Tanaka, M., Eynon, N., Bouchard, C., North, K.N., Williams, A.G., Collins, M., Moran, C.N., Britton, S.L., Fuku, N., Ashley, E.A., Klissouras, V., Lucia, A., Ahmetov, I.I., de Geus, E.J.C., Alsayrafi, M.
المصدر: Pitsiladis , Y P , Tanaka , M , Eynon , N , Bouchard , C , North , K N , Williams , A G , Collins , M , Moran , C N , Britton , S L , Fuku , N , Ashley , E A , Klissouras , V , Lucia , A , Ahmetov , I I , de Geus , E J C & Alsayrafi , M 2016 , ' Athlome Project Consortium: a concerted effort to discover genomic and other "omic" markers of athletic performance ' , Physiological Genomics , vol. 48 ....
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/partnerships, name=SDG 17 - Partnerships for the Goals
الوصف: Despite numerous attempts to discover genetic variants associated with elite athletic performance, injury predisposition, and elite/world-class athletic status, there has been limited progress to date. Past reliance on candidate gene studies predominantly focusing on genotyping a limited number of single nucleotide polymorphisms or the insertion/deletion variants in small, often heterogeneous cohorts (i.e., made up of athletes of quite different sport specialties) have not generated the kind of results that could offer solid opportunities to bridge the gap between basic research in exercise sciences and deliverables in biomedicine. A retrospective view of genetic association studies with complex disease traits indicates that transition to hypothesis-free genome-wide approaches will be more fruitful. In studies of complex disease, it is well recognized that the magnitude of genetic association is often smaller than initially anticipated, and, as such, large sample sizes are required to identify the gene effects robustly. A symposium was held in Athens and on the Greek island of Santorini from 14 -17 May 2015 to review the main findings in exercise genetics and genomics and to explore promising trends and possibilities. The symposium also offered a forum for the development of a position stand (the Santorini Declaration). Among the participants, many were involved in ongoing collaborative studies (e.g., ELITE, GAMES, Gene SMART, GENESIS, and POWERGENE). A consensus emerged among participants that it would be advantageous to bring together all current studies and those recently launched into one new large collaborative initiative, which was subsequently named the Athlome Project Consortium.
الإتاحة: https://doi.org/10.1152/physiolgenomics.00105.2015Test
https://research.vu.nl/en/publications/84309f10-4de7-47bd-9458-c6c990cbf1b1Test
https://hdl.handle.net/1871.1/84309f10-4de7-47bd-9458-c6c990cbf1b1Test -
10دورية أكاديمية
المؤلفون: Rankinen, T, Fuku, N, Wolfarth, B, Wang, G, Sarzynski, MA, Alexeev, DG, Ahmetov, II, Boulay, MR, Cieszczyk, P, Eynon, N, Filipenko, ML, Garton, FC, Generozov, EV, Govorun, VM, Houweling, PJ, Kawahara, T, Kostryukova, ES, Kulemin, NA, Larin, AK, Maciejewska-Karlowska, A, Miyachi, M, Muniesa, CA, Murakami, H, Ospanova, EA, Padmanabhan, S, Pavlenko, AV, Pyankova, ON, Santiago, C, Sawczuk, M, Scott, RA, Uyba, VV, Yvert, T, Perusse, L, Ghosh, S, Rauramaa, R, North, KN, Lucia, A, Pitsiladis, Y, Bouchard, C
المساهمون: Raleigh, S
الوصف: There are strong genetic components to cardiorespiratory fitness and its response to exercise training. It would be useful to understand the differences in the genomic profile of highly trained endurance athletes of world class caliber and sedentary controls. An international consortium (GAMES) was established in order to compare elite endurance athletes and ethnicity-matched controls in a case-control study design. Genome-wide association studies were undertaken on two cohorts of elite endurance athletes and controls (GENATHLETE and Japanese endurance runners), from which a panel of 45 promising markers was identified. These markers were tested for replication in seven additional cohorts of endurance athletes and controls: from Australia, Ethiopia, Japan, Kenya, Poland, Russia and Spain. The study is based on a total of 1520 endurance athletes (835 who took part in endurance events in World Championships and/or Olympic Games) and 2760 controls. We hypothesized that world-class athletes are likely to be characterized by an even higher concentration of endurance performance alleles and we performed separate analyses on this subsample. The meta-analysis of all available studies revealed one statistically significant marker (rs558129 at GALNTL6 locus, p = 0.0002), even after correcting for multiple testing. As shown by the low heterogeneity index (I2 = 0), all eight cohorts showed the same direction of association with rs558129, even though p-values varied across the individual studies. In summary, this study did not identify a panel of genomic variants common to these elite endurance athlete groups. Since GAMES was underpowered to identify alleles with small effect sizes, some of the suggestive leads identified should be explored in expanded comparisons of world-class endurance athletes and sedentary controls and in tightly controlled exercise training studies. Such studies have the potential to illuminate the biology not only of world class endurance performance but also of compromised cardiac functions and ...
العلاقة: pii: PONE-D-15-17880; Rankinen, T., Fuku, N., Wolfarth, B., Wang, G., Sarzynski, M. A., Alexeev, D. G., Ahmetov, I. I., Boulay, M. R., Cieszczyk, P., Eynon, N., Filipenko, M. L., Garton, F. C., Generozov, E. V., Govorun, V. M., Houweling, P. J., Kawahara, T., Kostryukova, E. S., Kulemin, N. A., Larin, A. K. ,. Bouchard, C. (2016). No Evidence of a Common DNA Variant Profile Specific to World Class Endurance Athletes. PLOS ONE, 11 (1), https://doi.org/10.1371/journal.pone.0147330Test.; http://hdl.handle.net/11343/262108Test
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