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2. Effect of aging on carotid artery stiffness and baroreflex sensitivity during head-out water immersion in man

Author

Ueno L.M., Miyachi M., Matsui T., Takahashi K., Yamazaki K., Hayashi K., Onodera S., and Moritani T.

Subjects
Aging, Baroreflex sensitivity, Carotid compliance, Water immersion, Hypertension, Vascular stiffness, Medicine (General), R5-920, Biology (General), QH301-705.5
Abstract

To examine the possible age-related blood pressure (BP) deregulation in response to central hypervolemia, we measured spontaneous baroreflex sensitivity (SBRS), carotid arterial compliance (CC), and R-R interval coefficient of variation (RRICV) during basal and thermoneutral resting head-out-of-water immersion (HOWI) in 7 young (YG = 24.0 ± 0.8 years) and 6 middle-aged/older (OL = 59.3 ± 1.3 years) healthy men. Compared with basal conditions (YG = 19.6 ± 4.0 vs OL = 6.1 ± 1.5 ms/mmHg, P < 0.05), SBRS remained higher in YG than OL during rest HOWI (YG = 23.6 ± 6.6 vs OL = 9.3 ± 2.1 ms/mmHg, P < 0.05). The RRICV was significantly different between groups (YG = 6.5 ± 1.4 vs OL = 2.8 ± 0.4%, P < 0.05) under HOWI. The OL group had no increase in CC, but a significant increase in systolic BP (basal = 115.3 ± 4.4 vs water = 129.3 ± 5.3 mmHg, P < 0.05) under HOWI. In contrast, the YG group had a significant increase in CC (basal = 0.16 ± 0.01 vs water = 0.17 ± 0.02 mm²/mmHg, P < 0.05) with no changes in systolic BP. SBRS was positively related to CC (r = 0.58, P < 0.05 for basal vs r = 0.62, P < 0.05 for water). Our data suggest that age-related vagal dysfunction and reduced CC may be associated with SBRS differences between YG and OL groups, and with BP elevation during HOWI in healthy older men.

Published
2005

3. Interference effect between $\phi$ and $\Lambda(1520)$ production channels in the $\gamma p \rightarrow K^+K^-p$ reaction near threshold

Author

Ryu, S. Y., Ahn, J. K., Nakano, T., Ahn, D. S., Ajimura, S., Akimune, H., Asano, Y., Chang, W. C., Chen, J. Y., Date, S., Ejiri, H., Fujimura, H., Fujiwara, M., Fukui, S., Hasegawa, S., Hicks, K., Horie, K., Hotta, T., Hwang, S. H., Imai, K., Ishikawa, T., Iwata, T., Kato, Y., Kawai, H., Kino, K., Kohri, H., Kon, Y., Kumagai, N., Lin, P. J., Maeda, Y., Makino, S., Matsuda, T., Matsuoka, N., Mibe, T., Miyabe, M., Miyachi, M., Morino, Y., Muramatsu, N., Murayama, R., Nakatsugawa, Y., Nam, S. i., Niiyama, M., Nomachi, M., Ohashi, Y., Ohkuma, H., Ohta, T., Ooba, T., Oshuev, D. S., Parker, J. D., Rangacharyulu, C., Sakaguchi, A., Sawada, T., Shagin, P. M., Shiino, Y., Shimizu, H., Strokovsky, E. A., Sugaya, Y., Sumihama, M., Tokiyasu, A. O., Toi, Y., Toyokawa, H., Tsunemi, T., Uchida, M., Ungaro, M., Wakai, A., Wang, C. W., Wang, S. C., Yonehara, K., Yorita, T., Yoshimura, M., Yosoi, M., and Zegers, R. G. T.

Subjects
Nuclear Experiment
Abstract

The $\phi$-$\Lambda(1520)$ interference effect in the $\gamma p\to K^+K^-p$ reaction has been measured for the first time in the energy range from 1.673 to 2.173 GeV. The relative phases between $\phi$ and $\Lambda(1520)$ production amplitudes were obtained in the kinematic region where the two resonances overlap. The measurement results support strong constructive interference when $K^+K^-$ pairs are observed at forward angles, but destructive interference for proton emission at forward angles. Furthermore, the observed interference effect does not account for the $\sqrt{s}=2.1$ GeV bump structure in forward differential cross sections for $\phi$ photoproduction. This fact suggests possible exotic structures such as a hidden-strangeness pentaquark state, a new Pomeron exchange and rescattering processes via other hyperon states.

Published
2016
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4. Search for $K^-pp$ bound state via $\gamma d \rightarrow K^+ \pi^-X$ reaction at $E_\gamma=1.5-2.4$ GeV

Author

Tokiyasu, A. O., Niiyama, M., Parker, J. D., Ahn, D. S., Ahn, J. K., Ajimura, S., Akimune, H., Asano, Y., Chang, W. C., Chen, J. Y., Daté, S., Ejiri, H., Fujimura, H., Fujiwara, M., Fukui, S., Hasegawa, S., Hicks, K., Horie, K., Hotta, T., Hwang, S. H., Imai, K., Ishikawa, T., Iwata, T., Kato, Y., Kawai, H., Kino, K., Kohri, H., Kon, Y., Kumagai, N., Lin, D. L., Maeda, Y., Makino, S., Matsuda, T., Matsumura, T., Matsuoka, N., Mibe, T., Miyabe, M., Miyachi, M., Muramatsu, N., Murayama, R., Nakano, T., Nakatsugawa, Y., Nomachi, M., Ohashi, Y., Ohkuma, H., Ohta, T., Ooba, T., Oshuev, D. S., Rangacharyulu, C., Ryu, S. Y., Sakaguchi, A., Sawada, T., Shagin, P. M., Shiino, Y., Shimizu, H., Strokovsky, E. A., Sugaya, Y., Sumihama, M., Tang, J. L., Toi, Y., Toyokawa, H., Tsunemi, T., Uchida, M., Ungaro, M., Wakai, A., Wang, C. W., Wang, S. C., Yonehara, K., Yorita, T., Yoshimura, M., Yosoi, M., and Zegers, R. G. T.

Subjects
Nuclear Experiment
Abstract

A search for $K^-pp$ bound state (the lightest kaonic nucleus) has been performed using the $\gamma d \rightarrow K^+ \pi^- \rm{X}$ reaction at E$_\gamma$=1.5-2.4 GeV at LEPS/SPring-8. The differential cross section of $K^+ \pi^-$ photo-production off deuterium has been measured for the first time in this energy region, and a bump structure was searched for in the inclusive missing mass spectrum. A statistically significant bump structure was not observed in the region from 2.22 to 2.36 GeV/$c^2$, and the upper limits of the differential cross section for the $K^-pp$ bound state production were determined to be 0.1$-$0.7 $\mu$ b (95$%$ confidence level) for a set of assumed binding energy and width values.

Published
2013
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5. Near-threshold photoproduction of $\Lambda(1520)$ from protons and deuterons

Author

LEPS Collaboration, Muramatsu, N., Chen, J. Y., Chang, W. C., Ahn, D. S., Ahn, J. K., Akimune, H., Asano, Y., Daté, S., Ejiri, H., Fujimura, H., Fujiwara, M., Fukui, S., Hasegawa, S., Hicks, K., Horie, K., Hotta, T., Imai, K., Ishikawa, T., Iwata, T., Kato, Y., Kawai, H., Kino, K., Kohri, H., Kumagai, N., Makino, S., Matsuda, T., Matsumura, T., Matsuoka, N., Mibe, T., Miyabe, M., Miyachi, M., Nakano, T., Niiyama, M., Nomachi, M., Ohashi, Y., Ohkuma, H., Ooba, T., Oshuev, D. S., Rangacharyulu, C., Sakaguchi, A., Shagin, P. M., Shiino, Y., Shimizu, H., Sugaya, Y., Sumihama, M., Toi, Y., Toyokawa, H., Wakai, A., Wang, C. W., Wang, S. C., Yonehara, K., Yorita, T., Yoshimura, M., Yosoi, M., and Zegers, R. G. T.

Subjects
Nuclear Experiment
Abstract

Photoproduction of $\Lambda$(1520) with liquid hydrogen and deuterium targets was examined at photon energies below 2.4 GeV in the SPring-8 LEPS experiment. For the first time, the differential cross sections were measured at low energies and with a deuterium target. A large asymmetry of the production cross sections from protons and neutrons was observed at backward K$^{+/0}$ angles. This suggests the importance of the contact term, which coexists with t-channel K exchange under gauge invariance. This interpretation was compatible with the differential cross sections, decay asymmetry, and photon beam asymmetry measured in the production from protons at forward K$^+$ angles., Comment: 5 pages and 4 figures. One reference added

Published
2009
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16. Safety at the platform

Author

Miyachi, M., primary, Sasaki, Y., additional, Morisaki, K., additional, Onda, K., additional, and Miyaoka, M., additional

Published
2010
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38. Umbilical Stoma: A Classical but New Concept

Author

Tsuyoshi Sano, Takuya Saito, K. Kaneko, Komatsu S, Ishiguro S, Miyachi M, Arikawa T, and K. Komaya

Subjects
Laparoscopic surgery, medicine.medical_specialty, Adult patients, business.industry, medicine.medical_treatment, Colostomy, Midline laparotomy, General Medicine, digestive system, digestive system diseases, Colorectal surgery, Surgery, Ileostomy, surgical procedures, operative, Pediatric surgery, medicine, business
Abstract

Today, surgeons almost always create a stoma through a left or right rectus muscle-splitting incision to avoid placement at the midline laparotomy wound of patients. In the past, some surgeons preferred to create a colostomy in the umbilicus, but the practice did not gain general acceptance and the umbilicus had been regarded as a site to avoid for stoma creation. However, this attitude has recently changed in the field of pediatric surgery and adult laparoscopic surgery. The umbilical site has been used for temporary colostomies for neonates or infants with anorectal malformation or Hirschsprung’s disease. Further, umbilical diverting loop ileostomies have been developed to prevent leakage in adult patients undergoing laparoscopic colorectal surgery, whose umbilicus had already been open at the time of the bowel extraction. These reports indicate the umbilical stoma is feasible, safe and cosmetically superior when reversed. Here we review the history of stoma creation and recent utilization of the umbilical stoma and provide a brief discussion on future perspectives.

Published
2017

39. Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

Author

Willems, SM, Wright, DJ, Day, FR, Trajanoska, K, Joshi, PK, Morris, JA, Matteini, AM, Garton, FC, Grarup, N, Oskolkov, N, Thalamuthu, A, Mangino, M, Liu, J, Demirkan, A, Lek, M, Xu, L, Wang, G, Oldmeadow, C, Gaulton, KJ, Lotta, LA, Miyamoto-Mikami, E, Rivas, MA, White, T, Loh, P-R, Aadahl, M, Amin, N, Attia, JR, Austin, K, Benyamin, B, Brage, S, Cheng, Y-C, Cięszczyk, P, Derave, W, Eriksson, K-F, Eynon, N, Linneberg, A, Lucia, A, Massidda, M, Mitchell, BD, Miyachi, M, Murakami, H, Padmanabhan, S, Pandey, A, Papadimitriou, I, 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, K-T, Kiel, DP, Oei, L, Zheng, H-F, Forgetta, V, Leong, A, Ahmad, OS, Laurin, C, Mokry, LE, Ross, S, Elks, CE, Bowden, J, Warrington, NM, Murray, A, Ruth, KS, Tsilidis, KK, Medina-Gómez, C, Estrada, K, Bis, JC, Chasman, DI, Demissie, S, Enneman, AW, Hsu, Y-H, Ingvarsson, T, Kähönen, M, Kammerer, C, Lacroix, AZ, Li, G, Liu, C-T, Liu, Y, Lorentzon, M, Mägi, R, Mihailov, E, Milani, L, Moayyeri, A, Nielson, CM, Sham, PC, Siggeirsdotir, K, Sigurdsson, G, Stefansson, K, Trompet, S, Thorleifsson, G, Vandenput, L, van der Velde, N, Viikari, J, Xiao, S-M, Zhao, JH, Evans, DS, Cummings, SR, Cauley, J, Duncan, EL, de Groot, LCPGM, Esko, T, Gudnason, V, Harris, TB, Jackson, RD, Jukema, JW, Ikram, AMA, Karasik, D, Kaptoge, S, Kung, AWC, Lehtimäki, T, Lyytikäinen, L-P, Lips, P, Luben, R, Metspalu, A, van Meurs, JBJ, Minster, RL, Orwoll, E, Oei, E, Psaty, BM, Raitakari, OT, Ralston, SW, Ridker, PM, Robbins, JA, Smith, AV, Styrkarsdottir, U, Tranah, GJ, Thorstensdottir, U, Uitterlinden, AG, Zmuda, J, Zillikens, MC, Ntzani, EE, Evangelou, E, Ioannidis, JPA, Evans, DM, Ohlsson, C, Pitsiladis, Y, Fuku, N, Franks, PW, North, KN, van Duijn, CM, Mather, KA, Hansen, T, Hansson, O, Spector, T, Murabito, JM, Richards, JB, Rivadeneira, F, Langenberg, C, Perry, JRB, Wareham, NJ, Scott, RA, Willems, Sara M, Wright, Daniel J, Day, Felix R, Trajanoska, Katerina, Benyamin, Beben, Scott, Robert A, GEFOS Anytype Fracture Consortium, Wright, Daniel [0000-0003-3983-2093], Day, Felix [0000-0003-3789-7651], White, Thomas [0000-0001-8456-0803], Brage, Soren [0000-0002-1265-7355], Khaw, Kay-Tee [0000-0002-8802-2903], Langenberg, Claudia [0000-0002-5017-7344], Perry, John [0000-0001-6483-3771], Wareham, Nicholas [0000-0003-1422-2993], Apollo - University of Cambridge Repository, Epidemiology, and Internal Medicine

Subjects
Male, Genome-wide association study, VARIANTS, Physical strength, DISEASE, Grip strength, 0302 clinical medicine, Neoplasm Proteins/genetics, GENETIC INFLUENCES, European Continental Ancestry Group/genetics, Aetiology, education.field_of_study, Hand Strength, Deporte, 3. Good health, Neoplasm Proteins, muscular fitness, Science & Technology - Other Topics, Medical genetics, medicine.medical_specialty, Science, 1.1 Normal biological development and functioning, European Continental Ancestry Group, ta3111, Article, White People, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, FRACTURES, Genetics, Humans, GENOME-WIDE ASSOCIATION, Genetik, Polymorphism, education, METAANALYSIS, Aged, VLAG, Global Nutrition, Wereldvoeding, Science & Technology, ta1184, Prevention, Hand/physiology, Biology and Life Sciences, INSTRUMENTS, Hand, GEFOS Any-Type of Fracture Consortium, Nuclear Proteins/genetics, Genetics, Population, 030104 developmental biology, Genetic Loci, 030217 neurology & neurosurgery, 0301 basic medicine, Transforming Growth Factor alpha/genetics, General Physics and Astronomy, Bioinformatics, GROWTH-FACTOR-ALPHA, Cohort Studies, Medicine and Health Sciences, 2.1 Biological and endogenous factors, ta315, Multidisciplinary, Nuclear Proteins, Single Nucleotide, Middle Aged, Multidisciplinary Sciences, MENDELIAN RANDOMIZATION, SKELETAL-MUSCLE, Female, Medical Genetics, Adult, Population, Quantitative trait locus, Biology, Polymorphism, Single Nucleotide, Underpinning research, Hand strength, MD Multidisciplinary, Mendelian randomization, medicine, Life Science, Membrane Proteins/genetics, Deportes, Medicinsk genetik, Repressor Proteins/genetics, Whites, Actins/genetics, Membrane Proteins, General Chemistry, Transforming Growth Factor alpha, Genética, Actins, United Kingdom, Repressor Proteins, Good Health and Well Being, Exercise Physiology and nutrition, Musculoskeletal, genome-wide association, Genome-Wide Association Study
Abstract

Hand grip strength is a widely used proxy of muscular fitness, a marker of frailty, and predictor of a range of morbidities and all-cause mortality. To investigate the genetic determinants of variation in grip strength, we perform a large-scale genetic discovery analysis in a combined sample of 195,180 individuals and identify 16 loci associated with grip strength (P, Hand grip strength as a proxy of muscular fitness is a clinical predictor of mortality and morbidity. In a large-scale GWA study, the authors find 16 robustly associated genetic loci that highlight roles in muscle fibre structure and function, neuronal maintenance and nervous system signal transduction.

Published
2017

40. Search for the K−pp bound state via γd→K+π−X reaction at Eγ=1.5–2.4 GeV

Author

Tokiyasu, A.O., Niiyama, M., Parker, J.D., Ahn, D.S., Ahn, J.K., Ajimura, S., Akimune, H., Asano, Y., Chang, W.C., Chen, J.Y., Daté, S., Ejiri, H., Fujimura, H., Fujiwara, M., Fukui, S., Hasegawa, S., Hicks, K., Horie, K., Hotta, T., Hwang, S.H., Imai, K., Ishikawa, T., Iwata, T., Kato, Y., Kawai, H., Kino, K., Kohri, H., Kon, Y., Kumagai, N., Lin, D.L., Maeda, Y., Makino, S., Matsuda, T., Matsumura, T., Matsuoka, N., Mibe, T., Miyabe, M., Miyachi, M., Muramatsu, N., Murayama, R., Nakano, T., Nakatsugawa, Y., Nomachi, M., Ohashi, Y., Ohkuma, H., Ohta, T., Ooba, T., Oshuev, D.S., Rangacharyulu, C., Ryu, S.Y., Sakaguchi, A., Sawada, T., Shagin, P.M., Shiino, Y., Shimizu, H., Strokovsky, E.A., Sugaya, Y., Sumihama, M., Tang, J.L., Toi, Y., Toyokawa, H., Tsunemi, T., Uchida, M., Ungaro, M., Wakai, A., Wang, C.W., Wang, S.C., Yonehara, K., Yorita, T., Yoshimura, M., Yosoi, M., and Zegers, R.G.T.

Subjects
Nuclear and High Energy Physics
Published
2014
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41. Interference effect between $��$ and $��(1520)$ production channels in the $��p \rightarrow K^+K^-p$ reaction near threshold

Author

Ryu, S. Y., Ahn, J. K., Nakano, T., Ahn, D. S., Ajimura, S., Akimune, H., Asano, Y., Chang, W. C., Chen, J. Y., Date, S., Ejiri, H., Fujimura, H., Fujiwara, M., Fukui, S., Hasegawa, S., Hicks, K., Horie, K., Hotta, T., Hwang, S. H., Imai, K., Ishikawa, T., Iwata, T., Kato, Y., Kawai, H., Kino, K., Kohri, H., Kon, Y., Kumagai, N., Lin, P. J., Maeda, Y., Makino, S., Matsuda, T., Matsuoka, N., Mibe, T., Miyabe, M., Miyachi, M., Morino, Y., Muramatsu, N., Murayama, R., Nakatsugawa, Y., Nam, S. i., Niiyama, M., Nomachi, M., Ohashi, Y., Ohkuma, H., Ohta, T., Ooba, T., Oshuev, D. S., Parker, J. D., Rangacharyulu, C., Sakaguchi, A., Sawada, T., Shagin, P. M., Shiino, Y., Shimizu, H., Strokovsky, E. A., Sugaya, Y., Sumihama, M., Tokiyasu, A. O., Toi, Y., Toyokawa, H., Tsunemi, T., Uchida, M., Ungaro, M., Wakai, A., Wang, C. W., Wang, S. C., Yonehara, K., Yorita, T., Yoshimura, M., Yosoi, M., and Zegers, R. G. T.

Subjects
FOS: Physical sciences, High Energy Physics::Experiment, Nuclear Experiment (nucl-ex), Nuclear Experiment
Abstract

The $��$-$��(1520)$ interference effect in the $��p\to K^+K^-p$ reaction has been measured for the first time in the energy range from 1.673 to 2.173 GeV. The relative phases between $��$ and $��(1520)$ production amplitudes were obtained in the kinematic region where the two resonances overlap. The measurement results support strong constructive interference when $K^+K^-$ pairs are observed at forward angles, but destructive interference for proton emission at forward angles. Furthermore, the observed interference effect does not account for the $\sqrt{s}=2.1$ GeV bump structure in forward differential cross sections for $��$ photoproduction. This fact suggests possible exotic structures such as a hidden-strangeness pentaquark state, a new Pomeron exchange and rescattering processes via other hyperon states.

Published
2016
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42. Athlome project consortium: A concerted effort to discover genomic and other 'omic' markers of athletic performance

Author

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. Alsayrafi, M. Webborn, N. Wang, G. Bishop, D.J. Papadimitriou, I. Yan, X. Tirosh, O. Kuang, J. Rankinen, T. Sarzinsky, M. Mikael Mattsson, C. Wheeler, M. Waggott, D. Byrne, N.M. Artioli, G.G. September, A. Posthumus, M. Van der Merwe, W. Cieszczyk, P. Leonska-Duniec, A. Ficek, K. Maciejewska-Karlowska, A. Sawczuk, M. Stepien-Slodkowska, M. Feller, J. Dijkstra, P. Chmutov, A.M. Dyatlov, D.A. Orekhov, E.F. Pushkareva, Y.E. Shvedkaya, I.A. Massidda, M. Calò, C.M. Day, S.H. Stebbings, G.K. Erskine, R.M. Montgomery, H.E. Garton, F.C. Houweling, P. Derave, W. Baguet, A. Muniesa, C.A. Sessa, F. Petito, A. Sale, C. Hughes, D.C. Varley, I. Boomsma, D. Bartels, M. Davies, G.E. Ginevičienė, V. Jakaitienė, A. Kučinskas, V. Tubelis, L. Utkus, A. Milašius, K. Venckunas, T. Skurvydas, A. Stasiulis, A. Malkova, D. Wilson, R. Koch, L.G. Zempo, H. Naito, H. Kikuchi, N. Miyamoto-Mikami, E. Murakami, H. Miyachi, M. Takahashi, H. Ohiwa, N. Kawahara, T. Tsuchie, H. Tobina, T. Ichinoseki-Sekine, N. Tanaka, H. Kaneoka, K. Nakazato, K. Egorova, E.S. Gabdrakhmanova, L.J. Arkhipova, A.A. Borisova, A.V. Gabbasov, R.T. Stepanova, A.A. Kashapov, R.I. Rogozkin, V.A. Astratenkova, I.V. Druzhevskaya, A.M. Fedotovskaya, O.N. Golberg, N.D. Hakimullina, A.M. Kostryukova, E.S. Alexeev, D.G. Generozov, E.V. Ischenko, D.S. Kulemin, N.A. Larin, A.K. Ospanova, E.A. Pavlenko, A.V. Govorun, V.M. Gilep, A.A. Gilep, I.L. Haidukevich, I.V. Rybina, I.L. Drozdovska, S.B. Docenko, V.E. Ilyin, V.N. Lekontsev, E. Akimov, E.B. El-Rayess, M. Georgakopoulos, C. Botre, F. Suhre, K. Hubank, M. Wolfarth, B. Greeves, J.P. Stellingwerff, T. Ranson, C. Fraser, W.D. Grealy, R. Griffiths, L. Scott, R. Pushkarev, V.P. Athlome Project Consortium

Abstract

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. © 2016 the American Physiological Society.

Published
2016

43. The Athlome Project Consortium: A Concerted Effort to Discover Genomic and other 'OMIC' Markers of Athletic Performance

Author

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., Alsayrafi, M., Webborn, N., Wang, G., Bishop, D. J., Papadimitriou, I., Yan, X., Tirosh, O., Kuang, J., Rankinen, T., Sarzinsky, M., Mikael Mattsson, C., Wheeler, M., Waggott, D., Byrne, N. M., Artioli, G. G., September, A., Posthumus, M., Van der Merwe, W., Cieszczyk, P., Leonska-Duniec, A., Ficek, K., Maciejewska-Karlowska, A., Sawczuk, M., Stepien-Slodkowska, M., Feller, J., Dijkstra, P., Chmutov, A. M., Dyatlov, D. A., Orekhov, E. F., Pushkareva, Y. E., Shvedkaya, I. A., Massidda, M., Calo, C. M., Day, S. H., Stebbings, G. K., Erskine, R. M., Montgomery, H. E., Garton, F. C., Houweling, P., Derave, W., Baguet, A., Muniesa, C. A., Sessa, F., Petito, A., Sale, C., Hughes, D. C., Varley, I., Boomsma, D., Bartels, M., Davies, G. E., Gineviciene, V., Jakaitiene, A., Kucinskas, V., Tubelis, L., Utkus, A., Milasius, K., Venckunas, T., Skurvydas, A., Stasiulis, A., Malkova, D., Wilson, R., Koch, L. G., Zempo, H., Naito, H., Kikuchi, N., Miyamoto-Mikami, E., Murakami, H., Miyachi, M., Takahashi, H., Ohiwa, N., Kawahara, T., Tsuchie, H., Tobina, T., Ichinoseki-Sekine, N., Tanaka, H., Kaneoka, K., Nakazato, K., Egorova, E. S., Gabdrakhmanova, L. J., Arkhipova, A. A., Borisova, A. V., Gabbasov, R. T., Stepanova, A. A., Kashapov, R. I., Rogozkin, V. A., Astratenkova, I. V., Druzhevskaya, A. M., Fedotovskaya, O. N., Golberg, N. D., Hakimullina, A. M., Kostryukova, E. S., Alexeev, D. G., Generozov, E. V., Ischenko, D. S., Kulemin, N. A., Larin, A. K., Ospanova, E. A., Pavlenko, A. V., Govorun, V. M., Gilep, A. A., Gilep, I. L., Haidukevich, I. V., Rybina, I. L., Drozdovska, S. B., Docenko, V. E., Ilyin, V. N., Lekontsev, E., Akimov, E. B., El-Rayess, M., Georgakopoulos, C., Botre, F., Suhre, K., Hubank, M., Wolfarth, B., Greeves, J. P., Stellingwerff, T., Ranson, C., Fraser, W. D., Grealy, R., Griffiths, L., Scott, R., Pushkarev, V. P., Biological Psychology, EMGO+ - Lifestyle, Overweight and Diabetes, and Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep

Subjects
0301 basic medicine, Candidate gene, Physiology, Sports genomics, Performance, Declaration, Genomics, Tissue Banks, Athletic Performance, Genética humana, Epigenesis, Genetic, RC1200, 03 medical and health sciences, 0302 clinical medicine, SDG 17 - Partnerships for the Goals, Genetic, Atleta, Genetics, Animals, Humans, QH426, Biomedicine, Genetic association, Atletismo, biology, Athletes, business.industry, Call for Papers: Systems Biology and Polygenic Traits, 030229 sport sciences, Atletas, Deporte, biology.organism_classification, QP, Data science, Biobank, Europe, 030104 developmental biology, Elite, business, Biomarkers, Epigenesis
Abstract

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 (SNPs) or the insertion/deletion variants in small, often heterogeneous cohorts 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 associations is often smaller than initially anticipated and, as such, large sample sizes are required to identify them robustly. Thus, alternative approaches involving large-scale, collaborative efforts, within which high-resolution genome-wide data is generated and interrogated using advanced bioinformatics approaches, are likely necessary for meaningful progress to be made. Accordingly, a symposium was held on the Greek island of Santorini from 14-17th May 2015 to review the main findings in exercise genetics and genomics and to explore promising trends and possibilities. The symposium offered a forum for the development of a position stand. Among the participants, many were involved in ongoing collaborative studies. 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. Sin financiación 3.044 JCR (2016) Q2, 26/84 Physiology, 68/167 Genetics and Heredity; Q3, 104/190 Cell Biology 1.448 SJR (2016) Q2, 106/351 Genetics, 47/191 Physiology No data IDR 2016 UEM

Published
2016

47. No Evidence of a Common DNA Variant Profile Specific to World Class Endurance Athletes

Author

Raleigh, S, 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, Raleigh, S, 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, and Bouchard, C

Abstract

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

Published
2016

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