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11. Investigation of multiple populations highlight VEGFA polymorphisms to modulate anterior cruciate ligament injury

Author

Feldmann, Daneil C., Rahim, Masouda, Suijkerbuijk, Mathijs A. M., Laguette, Mary-Jessica N., Cieszczyk, Pawel, Ficek, Krzysztof, Huminska-Lisowska, Kinga, Hager, Charlotte K., Stattin, Evalena, Nilsson, Kjell G., Alvarez-Rumero, Javier, Eynon, Nir, Feller, Julian, Tirosh, Oren, Posthumus, Michael, Chimusa, Emile R., Collins, Malcolm, September, Alison, V, Feldmann, Daneil C., Rahim, Masouda, Suijkerbuijk, Mathijs A. M., Laguette, Mary-Jessica N., Cieszczyk, Pawel, Ficek, Krzysztof, Huminska-Lisowska, Kinga, Hager, Charlotte K., Stattin, Evalena, Nilsson, Kjell G., Alvarez-Rumero, Javier, Eynon, Nir, Feller, Julian, Tirosh, Oren, Posthumus, Michael, Chimusa, Emile R., Collins, Malcolm, and September, Alison, V

Abstract

Polymorphisms in VEGFA and KDR encoding proteins have been associated with anterior cruciate ligament (ACL) injury risk. We leveraged a collective sample from Sweden, Poland, and Australia to investigate the association of functional polymorphisms in VEGFA and KDR with susceptibility to ACL injury risk. Using a case-control genetic association approach, polymorphisms in VEGFA and KDR were genotyped and haplotypes inferred from 765 controls, and 912 cases clinically diagnosed with ACL rupture. For VEGFA, there was a significant overrepresentation of the rs2010963 CC genotype (p = 0.0001, false discovery rate [FDR]: p = 0.001, odds ratio [OR]: 2.16, 95% confidence interval [CI]: 1.47-3.19) in the combined ACL group (18%) compared to the combined control group (11%). The VEGFA (rs699947 C/A, rs1570360 G/A, rs2010963 G/C) A-A-G haplotype was significantly (p = 0.010, OR: 0.85, 95% CI: 0.69-1.05) underrepresented in the combined ACL group (23%) compared to the combined control group (28%). In addition, the A-G-G construct was significantly (p = 0.036, OR: 0.81, 95% CI: 0.64-1.02) underrepresented in the combined ACL group (12%) compared to the combined CON group (16%). Our findings support the association of the VEGFA rs2010963 CC genotype with increased risk and (ii) the VEGFA A-A-G haplotype with a reduced risk, and are in alignment with the a priori hypothesis. Collectively identifying a genetic interval within VEGFA to be implicated in ACL risk modulation and highlight further the importance of vascular regulation in ligament biology.

Published
2022
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15. AGTR2 gene polymorphism is associated with muscle fibre composition, athletic status and aerobic performance

Author

Mustafina, Leysan J., Naumov, Vladimir A., Cieszczyk, Pawel, Popov, Daniil V., Lyubaeva, Ekaterina V., Kostryukova, Elena S., Fedotovskaya, Olga N., Druzhevskaya, Anastasiya M., Astratenkova, Irina V., Glotov, Andrey S., Alexeev, Dmitry G., Mustafina, Milyausha M., Egorova, Emiliya S., Maciejewska-Karłowska, Agnieszka, Larin, Andrey K., Generozov, Edward V., Nurullin, Ruslan E., Jastrzębski, Zbigniew, Kulemin, Nickolay A., Ospanova, Elena A., Pavlenko, Alexander V., Sawczuk, Marek, Akimov, Egor B., Danilushkina, Anna A., Żmijewski, Piotr, Vinogradova, Olga L., Govorun, Vadim M., and Ahmetov, Ildus I.

Published
2014
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16. Genomics of Elite Sporting Performance

Author

Wang, Guan, primary, Padmanabhan, Sandosh, additional, Wolfarth, Bernd, additional, Fuku, Noriyuki, additional, Lucia, Alejandro, additional, Ahmetov, Ildus I., additional, Cieszczyk, Pawel, additional, Collins, Malcolm, additional, Eynon, Nir, additional, Klissouras, Vassilis, additional, Williams, Alun, additional, and Pitsiladis, Yannis, additional

Published
2013
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17. Is the Combination of COL1A1 Gene Polymorphisms a Marker of Injury Risk?

Author

Stepien-Slodkowska, Marta, Ficek, Krzysztof, Zietek, Pawel, Kaczmarczyk, Mariusz, Lubkowska, Wioletta, Szark-Eckardt, Miroslawa, and Cieszczyk, Pawel

Subjects
ANTERIOR cruciate ligament injuries, DNA analysis, SKIING injuries, ALLELES, CHI-squared test, COMPARATIVE studies, CONFIDENCE intervals, FISHER exact test, GENETIC polymorphisms, POLYMERASE chain reaction, PROBABILITY theory, PHENOTYPES, LOGISTIC regression analysis, STATISTICAL power analysis, DATA analysis software, HAPLOTYPES, DESCRIPTIVE statistics, ODDS ratio, GENOTYPES, INJURY risk factors
Abstract

Context: The most commonly injured body part for skiing has been found to be the knee. The rupture of the anterior cruciate ligament (ACL) was the most frequent diagnosis. ACL ruptures are determined by several extrinsic and intrinsic risk factors including those that are hormonal, neuromuscular, anatomical, or genetic. Objectives: To examine the association of both COL1A1 rs1800012 (+1245G/T) and COL1A1 rs1107946 (-1997G/T) polymorphisms, individually and as haplotypes, with ACL ruptures in recreational Polish skiers. Design: Genomic DNA was extracted from buccal cells donated by the subjects, and genotyping was carried out using real-time polymerase chain reaction. Settings: University laboratory. Participants: 138 male recreational skiers with surgically diagnosed primary ruptures and 183 apparently healthy male recreational skiers not differing markedly in age or level of exposure to ACL injury. Main Outcome Measures: COL1A1 rs1800012 and COL1A1 rs1107946 polymorphisms. Results: There were significant differences in genotype distribution of the COL1A1 rs1800012 polymorphism between the ACL rupture group and the control group. The GG homozygotes were underrepresented in the ACL rupture group compared with the control group. There were no significant differences in genotype distribution or allele frequency of COL1A1 rs1107946 polymorphisms between the ACL rupture group and the control group. The G-G (COL1A1 rs1800012G and COL1A1 rs1107946G) haplotype was the most common. There were no significant differences in haplotype distribution between the ACL-rupture and control groups. Conclusion: The study showed that GG homozygotes were underrepresented in the ACL-rupture group compared with the control group, which suggests an association with reduced risk of ACL injury. [ABSTRACT FROM AUTHOR]

Published
2017
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21. TNFA expression level changes observed in response to the Wingate Anaerobic Test in non-trained and trained individuals

Author

Maciejewska-Skrendo, Agnieszka, primary, Mieszkowski, Jan, additional, Kochanowicz, Andrzej, additional, Stankiewicz, Blazej, additional, Cieszczyk, Pawel, additional, Switala, Katarzyna, additional, Gomes de Assis, Gilmara, additional, Kecler, Katarzyna, additional, Tarnowski, Maciej, additional, and Sawczuk, Marek, additional

Published
2019
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23. No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes

Author

Papadimitriou, Ioannis D., primary, Lockey, Sarah J., additional, Voisin, Sarah, additional, Herbert, Adam J., additional, Garton, Fleur, additional, Houweling, Peter J., additional, Cieszczyk, Pawel, additional, Maciejewska-Skrendo, Agnieszka, additional, Sawczuk, Marek, additional, Massidda, Myosotis, additional, Calò, Carla Maria, additional, Astratenkova, Irina V., additional, Kouvatsi, Anastasia, additional, Druzhevskaya, Anastasiya M., additional, Jacques, Macsue, additional, Ahmetov, Ildus I., additional, Stebbings, Georgina K., additional, Heffernan, Shane, additional, Day, Stephen H., additional, Erskine, Robert, additional, Pedlar, Charles, additional, Kipps, Courtney, additional, North, Kathryn N., additional, Williams, Alun G., additional, and Eynon, Nir, additional

Published
2018
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24. AGTR2 and sprint/power performance: a case-control replication study for rs11091046 polymorphism in two ethnicities

Author

Yvert, Thomas P., primary, Zempo, Hirofumi, additional, Gabdrakhmanova, Leysan J., additional, Kikuchi, Naoki, additional, Miyamoto-Mikami, Eri, additional, Murakami, Haruka, additional, Naito, Hisashi, additional, Cieszczyk, Pawel, additional, Leznicka, Katarzyna, additional, Kostryukova, Elena S., additional, Alexeev, Dmitry G., additional, Egorova, Emiliya S., additional, Maciejewska-Skrendo, Agnieszka, additional, Larin, Andrey K., additional, Generozov, Edward V., additional, Kulemin, Nickolay A., additional, Ospanova, Elena A., additional, Pavlenko, Alexander V., additional, Sawczuk, Marek, additional, Zmijewski, Piotr, additional, Lulinska-Kuklik, Ewelina, additional, Govorun, Vadim M., additional, Miyachi, Motohiko, additional, Ahmetov, Ildus I., additional, and Fuku, Noriyuki, additional

Published
2018
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25. Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

Author

Willems, Sara M., Wright, Daniel J., Day, Felix R., Trajanoska, Katerina, Joshi, Peter K., Morris, John A., Matteini, Amy M., Garton, Fleur C., Grarup, Niels, Oskolkov, Nikolay, Thalamuthu, Anbupalam, Mangino, Massimo, Liu, Jun, Demirkan, Ayse, Lek, Monkol, Xu, Liwen, Wang, Guan, Oldmeadow, Christopher, Gaulton, Kyle J., Lotta, Luca A., Miyamoto-Mikami, Eri, Rivas, Manuel A., White, Tom, Loh, Po-Ru, Aadahl, Mette, Amin, Najaf, Attia, John R., Austin, Krista, Benyamin, Beben, Brage, Soren, Cheng, Yu-Ching, Cieszczyk, Pawel, Derave, Wim, Eriksson, Karl-Fredrik, Eynon, Nir, Linneberg, Allan, Lucia, Alejandro, Massidda, Myosotis, Mitchell, Braxton D., Miyachi, Motohiko, Murakami, Haruka, Padmanabhan, Sandosh, Pandey, Ashutosh, Papadimitriou, Loannis, Rajpal, Deepak K., Sale, Craig, Schnurr, Theresia M., Sessa, Francesco, Shrine, Nick, Tobin, Martin D., Varley, Ian, Wain, Louise V., Wray, Naomi R., Lindgren, Cecilia M., MacArthur, Daniel G., Waterworth, Dawn M., McCarthy, Mark I., Pedersen, Oluf, Khaw, Kay-Tee, Kie, Douglas P., Pitsiladis, Yannis, Fuku, Noriyuki, Franks, Paul W., North, Kathryn N., van Duijn, Cornelia M., Mather, Karen A., Hansen, Torben, Hansson, Ola, Spector, Tim, Murabito, Joanne M., Richards, J. Brent, Rivadeneira, Fernando, Langenberg, Claudia, Perry, John R. B., Wareham, Nick J., Scott, Robert A., Willems, Sara M., Wright, Daniel J., Day, Felix R., Trajanoska, Katerina, Joshi, Peter K., Morris, John A., Matteini, Amy M., Garton, Fleur C., Grarup, Niels, Oskolkov, Nikolay, Thalamuthu, Anbupalam, Mangino, Massimo, Liu, Jun, Demirkan, Ayse, Lek, Monkol, Xu, Liwen, Wang, Guan, Oldmeadow, Christopher, Gaulton, Kyle J., Lotta, Luca A., Miyamoto-Mikami, Eri, Rivas, Manuel A., White, Tom, Loh, Po-Ru, Aadahl, Mette, Amin, Najaf, Attia, John R., Austin, Krista, Benyamin, Beben, Brage, Soren, Cheng, Yu-Ching, Cieszczyk, Pawel, Derave, Wim, Eriksson, Karl-Fredrik, Eynon, Nir, Linneberg, Allan, Lucia, Alejandro, Massidda, Myosotis, Mitchell, Braxton D., Miyachi, Motohiko, Murakami, Haruka, Padmanabhan, Sandosh, Pandey, Ashutosh, Papadimitriou, Loannis, Rajpal, Deepak K., Sale, Craig, Schnurr, Theresia M., Sessa, Francesco, Shrine, Nick, Tobin, Martin D., Varley, Ian, Wain, Louise V., Wray, Naomi R., Lindgren, Cecilia M., MacArthur, Daniel G., Waterworth, Dawn M., McCarthy, Mark I., Pedersen, Oluf, Khaw, Kay-Tee, Kie, Douglas P., Pitsiladis, Yannis, Fuku, Noriyuki, Franks, Paul W., North, Kathryn N., van Duijn, Cornelia M., Mather, Karen A., Hansen, Torben, Hansson, Ola, Spector, Tim, Murabito, Joanne M., Richards, J. Brent, Rivadeneira, Fernando, Langenberg, Claudia, Perry, John R. B., Wareham, Nick J., and Scott, Robert A.

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<5 x 10(-8)) in combined analyses. A number of these loci contain genes implicated in structure and function of skeletal muscle fibres (ACTG1), neuronal maintenance and signal transduction (PEX14, TGFA, SYT1), or monogenic syndromes with involvement of psychomotor impairment (PEX14, LRPPRC and KANSL1). Mendelian randomization analyses are consistent with a causal effect of higher genetically predicted grip strength on lower fracture risk. In conclusion, our findings provide new biological insight into the mechanistic underpinnings of grip strength and the causal role of muscular strength in age-related morbidities and mortality.

Published
2017
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26. GSTP1 c.313A>G polymorphism in Russian and Polish athletes

Author

Zarebska, Aleksandra, primary, Jastrzebski, Zbigniew, additional, Ahmetov, Ildus I., additional, Zmijewski, Piotr, additional, Cieszczyk, Pawel, additional, Leonska-Duniec, Agata, additional, Sawczuk, Marek, additional, Leznicka, Katarzyna, additional, Trybek, Grzegorz, additional, Semenova, Ekaterina A., additional, and Maciejewska-Skrendo, Agnieszka, additional

Published
2017
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28. Three DNA Polymorphisms Previously Identified as Markers for Handgrip Strength Are Associated With Strength in Weightlifters and Muscle Fiber Hypertrophy.

Author

Grishina, Elina E., Zmijewski, Piotr, Semenova, Ekaterina A., Cieszczyk, Pawel, Huminska-Lisowska, Kinga, Michalowska-Sawczyn, Monika, Maculewicz, Ewelina, Crewther, Blair, Orysiak, Joanna, Kostryukova, Elena S., Kulemin, Nickolay A., Borisov, Oleg V., Khabibova, Sofya A., Larin, Andrey K., Pavlenko, Alexander V., Lyubaeva, Ekaterina V., Popov, Daniil V., Lysenko, Evgeny A., Vepkhvadze, Tatiana F., and Lednev, Egor M.

Subjects
ALLELES, DNA, GENETIC polymorphisms, GENETIC techniques, GRIP strength, MUSCLE strength, MUSCLES, MUSCULAR atrophy, POLYMERASE chain reaction, WEIGHT lifting, GENETIC markers, MICROARRAY technology, DESCRIPTIVE statistics, GENOTYPES
Abstract

Grishina, EE, Zmijewski, P, Semenova, EA, Cieszczyk, P, Huminska-Lisowska, K, Michalowska-Sawczyn, M, Maculewicz, E, Crewther, B, Orysiak, J, Kostryukova, ES, Kulemin, NA, Borisov, OV, Khabibova, SA, Larin, AK, Pavlenko, AV, Lyubaeva, EV, Popov, DV, Lysenko, EA, Vepkhvadze, TF, Lednev, EM, Bondareva, EA, Erskine, RM, Generozov, EV, and Ahmetov, II. Three DNA polymorphisms previously identified as markers for handgrip strength are associated with strength in weightlifters and muscle fiber hypertrophy. J Strength Cond Res 33(10): 2602-2607, 2019-Muscle strength is a highly heritable trait. So far, 196 single nucleotide polymorphisms (SNPs) associated with handgrip strength have been identified in 3 genome-wide association studies. The aim of our study was to validate the association of 35 SNPs with strength of elite Russian weightlifters and replicate the study in Polish weightlifters. Genotyping was performed using micro-array analysis or real-time polymerase chain reaction. We found that the rs12055409 G-allele near the MLN gene (p = 0.004), the rs4626333 G-allele near the ZNF608 gene (p = 0.0338), and the rs2273555 A-allele in the GBF1 gene (p = 0.0099) were associated with greater competition results (total lifts in snatch and clean and jerk adjusted for sex and weight) in 53 elite Russian weightlifters. In the replication study of 76 sub-elite Polish weightlifters, rs4626333 GG homozygotes demonstrated greater competition results (p = 0.0155) and relative muscle mass (p = 0.046), adjusted for sex, weight, and age, compared with carriers of the A-allele. In the following studies, we tested the hypotheses that these SNPs would be associated with skeletal muscle hypertrophy and handgrip strength. We found that the number of strength-associated alleles was positively associated with fast-twitch muscle fiber cross-sectional area in the independent cohort of 20 male power athletes (p = 0.021) and with handgrip strength in 87 physically active individuals (p = 0.015). In conclusion, by replicating previous findings in 4 independent studies, we demonstrate that the rs12055409 G-, rs4626333 G-, and rs2273555 A-alleles are associated with higher levels of strength, muscle mass, and muscle fiber size. [ABSTRACT FROM AUTHOR]

Published
2019
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29. PGC-related gene variants and elite endurance athletic status in a Chinese cohort: A functional study

Author

He, Zi-Hong, Hu, Yang, Li, Yan-Chun, Gong, L. J., Cieszczyk, Pawel, Maciejewska-Karlowska, Agnieszka, Leonska-Duniec, A., Muniesa Ferrero, Carlos Alberto, Marín-Peiró, María, Santiago Dorrego, Catalina, Garatachea, Nuria, Eynon, Nir, and Lucía Mulas, Alejandro

Subjects
Genética humana, Ejercicio físico, Ciencias médicas
Abstract

This study aims to examine the association between proliferator-activated receptor γ (PGC)-gene family-related single nucleotide polymorphisms (SNPs) and elite endurance runners' status in a Chinese cohort, and to gain insights into the functionality of a subset of SNPs. Genotype distributions of 133 SNPs in PPARGC1A, PPARGC1B, PPRC1, TFAM, TFB1M, TFB2M, NRF1, GABPA, GABPB1, ERRα, and SIRT1 genes were compared between 235 elite Chinese (Han) endurance runners (127 women) and 504 healthy non-athletic controls (237 women). Luciferase gene reporter activity was determined in 20 SNPs. After adjusting for multiple comparisons (in which threshold P-value was set at 0.00041), no significant differences were found in allele/genotype frequencies between athletes and controls (when both sexes were analyzed either together or separately). The lowest P-value was found in PPARGC1A rs4697425 (P = 0.001 for the comparison of allele frequencies between elite female endurance runners and their gender-matched controls). However, no association (all P > 0.05) was observed for this SNP in a replication cohort from Poland (194 endurance athletes and 190 controls). Using functional genomics tool, the following SNPs were found to have functional significance: PPARGC1A rs6821591, rs12650562, rs12374310, rs4697425, rs13113110, and rs4452416; PPARGC1B rs251466 and rs17110586; and PPRC1 rs17114388 (all P

Published
2014

30. ACVR1B rs2854464 Is Associated with Sprint/Power Athletic Status in a Large Cohort of Europeans but Not Brazilians

Author

Voisin, Sarah, primary, Guilherme, João Paulo F. L., additional, Yan, Xu, additional, Pushkarev, Vladimir P., additional, Cieszczyk, Pawel, additional, Massidda, Myosotis, additional, Calò, Carla M., additional, Dyatlov, Dmitry A., additional, Kolupaev, Vitaliy A., additional, Pushkareva, Yuliya E., additional, Maciejewska, Agnieszka, additional, Sawczuk, Marek, additional, Lancha, Antonio H., additional, Artioli, Guilherme G., additional, and Eynon, Nir, additional

Published
2016
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31. ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study

Author

Papadimitriou, Ioannis D., primary, Lucia, Alejandro, additional, Pitsiladis, Yannis P., additional, Pushkarev, Vladimir P., additional, Dyatlov, Dmitry A., additional, Orekhov, Evgeniy F., additional, Artioli, Guilherme G., additional, Guilherme, João Paulo L. F., additional, Lancha, Antonio H., additional, Ginevičienė, Valentina, additional, Cieszczyk, Pawel, additional, Maciejewska-Karlowska, Agnieszka, additional, Sawczuk, Marek, additional, Muniesa, Carlos A., additional, Kouvatsi, Anastasia, additional, Massidda, Myosotis, additional, Calò, Carla Maria, additional, Garton, Fleur, additional, Houweling, Peter J., additional, Wang, Guan, additional, Austin, Krista, additional, Druzhevskaya, Anastasiya M., additional, Astratenkova, Irina V., additional, Ahmetov, Ildus I., additional, Bishop, David J., additional, North, Kathryn N., additional, and Eynon, Nir, additional

Published
2016
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32. No Evidence of a Common DNA Variant Profile Specific to World Class Endurance Athletes

Author

Rankinen, Tuomo, primary, Fuku, Noriyuki, additional, Wolfarth, Bernd, additional, Wang, Guan, additional, Sarzynski, Mark A., additional, Alexeev, Dmitry G., additional, Ahmetov, Ildus I., additional, Boulay, Marcel R., additional, Cieszczyk, Pawel, additional, Eynon, Nir, additional, Filipenko, Maxim L., additional, Garton, Fleur C., additional, Generozov, Edward V., additional, Govorun, Vadim M., additional, Houweling, Peter J., additional, Kawahara, Takashi, additional, Kostryukova, Elena S., additional, Kulemin, Nickolay A., additional, Larin, Andrey K., additional, Maciejewska-Karłowska, Agnieszka, additional, Miyachi, Motohiko, additional, Muniesa, Carlos A., additional, Murakami, Haruka, additional, Ospanova, Elena A., additional, Padmanabhan, Sandosh, additional, Pavlenko, Alexander V., additional, Pyankova, Olga N., additional, Santiago, Catalina, additional, Sawczuk, Marek, additional, Scott, Robert A., additional, Uyba, Vladimir V., additional, Yvert, Thomas, additional, Perusse, Louis, additional, Ghosh, Sujoy, additional, Rauramaa, Rainer, additional, North, Kathryn N., additional, Lucia, Alejandro, additional, Pitsiladis, Yannis, additional, and Bouchard, Claude, additional

Published
2016
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33. Genomics of elite sporting performance: What little we know and necessary advances

Author

Wang, Guan, Padmanabhan, Sandosh, Wolfarth, Bernd, Fuku, Noriyuki, Lucía Mulas, Alejandro, Ahmetov, Ildus I., Cieszczyk, Pawel, Collins, Malcolm, Eynon, Nir, Klissouras, Vassilis, Williams, Alun G., and Pitsiladis, Yannis

Subjects
Fisiología del deporte, Genética humana, Fisiología humana
Abstract

5.410 JCR (2013) Q1, 22/164 Genetics & heredity UEM

Published
2013

34. AGTR2 and sprint/power performance: a case-control replication study for rs1 1091046 polymorphism in two ethnicities.

Author

Yvert, Thomas P., Zempo, Hirofumi, Gabdrakhmanova, Leysan J., Naoki Kikuchi, Eri Miyamoto-Mikami, Haruka Murakami, Hisashi Naito, Cieszczyk, Pawel, Leznicka, Katarzyna, Kostryukova, Elena S., Alexeev, Dmitry G., Egorova, Emiliya S., Maciejewska-Skrendo, Agnieszka, Larin, Andrey K., Generozov, Edward V., Kulemin, Nickolay A., Ospanova, Elena A., Pavlenko, Alexander V., Sawczuk, Marek, and Zmijewski, Piotr

Abstract

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 I²=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. [ABSTRACT FROM AUTHOR]

Published
2018
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36. Elite athletes’ genetic predisposition for altered risk of complex metabolic traits

Author

Banting, Lauren K, primary, Pushkarev, Vladimir P, additional, Cieszczyk, Pawel, additional, Zarebska, Aleksandra, additional, Maciejewska-Karlowska, Agnieszka, additional, Sawczuk, M-arek, additional, Leońska-Duniec, Agata, additional, Dyatlov, Dmitry A, additional, Orekhov, Evgeniy F, additional, Degtyarev, Aleksandr V, additional, Pushkareva, Yuliya E, additional, Yan, Xu, additional, Birk, Ruth, additional, and Eynon, Nir, additional

Published
2015
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37. Interactions between collagen gene variants and risk of anterior cruciate ligament rupture

Author

O'Connell, Kevin, primary, Knight, Hayley, additional, Ficek, Krzysztof, additional, Leonska-Duniec, Agata, additional, Maciejewska-Karlowska, Agnieszka, additional, Sawczuk, Marek, additional, Stepien-Slodkowska, Marta, additional, O'Cuinneagain, Dion, additional, van der Merwe, Willem, additional, Posthumus, Michael, additional, Cieszczyk, Pawel, additional, and Collins, Malcolm, additional

Published
2014
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38. EPAS1 gene variants are associated with sprint/power athletic performance in two cohorts of European athletes

Author

Voisin, Sarah, primary, Cieszczyk, Pawel, additional, Pushkarev, Vladimir P, additional, Dyatlov, Dmitry A, additional, Vashlyayev, Boris F, additional, Shumaylov, Vladimir A, additional, Maciejewska-Karlowska, Agnieszka, additional, Sawczuk, Marek, additional, Skuza, Lidia, additional, Jastrzebski, Zbigniew, additional, Bishop, David J, additional, and Eynon, Nir, additional

Published
2014
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39. The Pro12Ala Polymorphism of the Peroxisome Proliferator-Activated Receptor Gamma Gene Modifies the Association of Physical Activity and Body Mass Changes in Polish Women

Author

Zarebska, Aleksandra, primary, Jastrzebski, Zbigniew, additional, Cieszczyk, Pawel, additional, Leonska-Duniec, Agata, additional, Kotarska, Katarzyna, additional, Kaczmarczyk, Mariusz, additional, Sawczuk, Marek, additional, and Maciejewska-Karlowska, Agnieszka, additional

Published
2014
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40. New threats of genetic research in sport

Author

Cieszczyk, Pawel, Maciejewska, Agnieszka, Sawczuk, Marek, Cieszczyk, Pawel, Maciejewska, Agnieszka, and Sawczuk, Marek

Abstract

The main goal of this paper is to show the main threats and ethical controversies associated with the application of molecular biology in sport. Such ethical reservations are presently the most important obstacle to wider application of genetics in training and only a small fraction of its remarkable potential is used in sport practice. However, the increasing availability of molecular research and associated possibilities create a situation where the moral questions need to be comprehensively addressed.

Published
2010

42. Association of theMTHFR1298A>C (rs1801131) polymorphism with speed and strength sports in Russian and Polish athletes

Author

Zarebska, Aleksandra, primary, Ahmetov, Ildus I., additional, Sawczyn, Stanislaw, additional, Weiner, Alexandra S., additional, Kaczmarczyk, Mariusz, additional, Ficek, Krzysztof, additional, Maciejewska-Karlowska, Agnieszka, additional, Sawczuk, Marek, additional, Leonska-Duniec, Agata, additional, Klocek, Tomasz, additional, Voronina, Elena N., additional, Boyarskikh, Uljana A., additional, Filipenko, Maksim L., additional, and Cieszczyk, Pawel, additional

Published
2013
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44. The FTO A/T Polymorphism and Elite Athletic Performance: A Study Involving Three Groups of European Athletes

Author

Eynon, Nir, primary, Nasibulina, Emiliya S., additional, Banting, Lauren K., additional, Cieszczyk, Pawel, additional, Maciejewska-Karlowska, Agnieszka, additional, Sawczuk, Marek, additional, Bondareva, Elvira A., additional, Shagimardanova, Roza R., additional, Raz, Maytal, additional, Sharon, Yael, additional, Williams, Alun G., additional, Ahmetov, Ildus I., additional, Lucia, Alejandro, additional, and Birk, Ruth, additional

Published
2013
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45. The ACTN3 R577X Polymorphism across Three Groups of Elite Male European Athletes

Author

Eynon, Nir, primary, Ruiz, Jonatan R., additional, Femia, Pedro, additional, Pushkarev, Vladimir P., additional, Cieszczyk, Pawel, additional, Maciejewska-Karlowska, Agnieszka, additional, Sawczuk, Marek, additional, Dyatlov, Dmitry A., additional, Lekontsev, Evgeny V., additional, Kulikov, Leonid M., additional, Birk, Ruth, additional, Bishop, David J., additional, and Lucia, Alejandro, additional

Published
2012
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