Acyl Coenzyme A Synthetase Long-Chain 1 ( ACSL1 ) Gene Polymorphism (rs6552828) and Elite Endurance Athletic Status: A Replication Study

abstract: ...The aim of this study was to determine the association between the rs6552828 polymorphism in acyl coenzyme A synthetase ( ACSL1 ) and elite endurance athletic status. We studied 82 Caucasian (Spanish) World/Olympic-class endurance male athletes, and a group of sex and ethnically matched healthy young adults ( controls , n=197). The analyses were replicated in a cohort of a different ethnic origin (Chinese of the Han ethnic group), composed of elite endurance athletes (runners) [ cases , n=241 (128 male)] and healthy sedentary adults [ controls , n=504 (267 male)]. In the Spanish cohort, genotype ( P =0.591) and minor allele (A) frequencies were similar in cases and controls ( P =0.978). In the Chinese cohort, genotype ( P =0.973) and minor allele (G) frequencies were comparable in female endurance athletes and sedentary controls ( P =0.881), whereas in males the frequency of the G allele was higher in endurance athletes (0.40) compared with their controls (0.32, P =0.040). The odds ratio (95%CI) for an elite endurance Chinese athlete to carry the G allele compared with ethnically matched controls was 1.381 (1.0151.880) ( P -value=0.04). Our findings suggest that the ACSL1 gene polymorphism rs6552828 is not associated with elite endurance athletic status in Caucasians, yet a marginal association seems to exist for the Chinese (Han) male population.

... Synthetase Long-Chain 1 ( ACSL1 ) Gene Polymorphism (rs6552828) and Elite Endurance Athletic Status: A Replication Study ACSL1 Gene Polymorphism and Athletic Performance Yvert Thomas 1 He Zi-Hong 2 Santiago Catalina 1 Hu Yang 3 Li Yan-Chun 3 Gmez-Gallego Flix 1 Fiuza-Luces Carmen 1 Verde Zoraida 1 Muniesa Carlos A. 4 Olivn Jess 4 Santalla Alfredo 5 Ruiz Jonatan R. 6 7 Lucia Alejandro 1 * 1 Department of Biomedicine, European University of Madrid, Madrid, Spain 2 Biology Center, China Institute of Sport

... article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 2012 The aim of this study was to determine the association between the rs6552828 polymorphism in acyl coenzyme A synthetase ( ACSL1 ) and elite endurance athletic status. We studied 82 Caucasian (Spanish) World/Olympic-class endurance male athletes, and a group of sex and ethnically matched

... female endurance athletes and sedentary controls ( P =0.881), whereas in males the frequency of the G allele was higher in endurance athletes (0.40) compared with their controls (0.32, P =0.040). The odds ratio (95%CI) for an elite endurance Chinese athlete to carry the G allele compared with ethnically matched controls was 1.381 (1.0151.880) ( P -value=0.04). Our findings suggest that the ACSL1 gene polymorphism rs6552828 is not associated with elite endurance athletic status in Caucasians, yet a

... response of VO 2 max was found to acyl coenzyme A synthetase long-chain 1 ( ACSL1 ) gene polymorphism (rs6552828). The ACSL1 gene is a candidate to explain individual variability in endurance performance, as well as in some health-related phenotypes, owing to its potential role in aerobic metabolism at the adypocite, cardiomyocite, liver and skeletal muscle fiber level [4] , [5] , [6] , [7] , [8] , [9] . The findings of GWA studies should be further explored in genetic association studies focused on those SNPs showing the highest level of association [2] . Thus, the purpose of the present case:control study was to determine the association between the ACSL1 rs6552828 polymorphism and elite endurance athletic status. To this end, we studied a cohort that comprised Caucasian (Spanish) World/Olympic-class endurance male athletes ( cases ), and sex and ethnically-matched healthy young adults ( controls ). We also studied a replication cohort of a different ethnic origin (Chinese of the Han ethnic group), composed of elite endurance athletes ( cases ), and healthy sedentary adults ( controls ). Owing to the important putative role of ACSL1 in aerobic-related phenotypes [4] , [5] , [6] , [7] , [8] , [9] we hypothesized that the ACSL1 rs6552828 polymorphism is associated with elite endurance athletic status. Methods Participants The research project was in accordance with the Declaration of Helsinki, it was approved by the corresponding University Review Boards [ Universidad Europea de Madrid

... phenol-chloroform DNA extraction protocol with alcoholic precipitation. Genomic DNA was resuspended in 50 l milli-Q H 2 O and stored at 20C. Genotyping was performed during AprilMay 2011 in the Genetics laboratory of the UEM. Polymerase chain reaction (PCR) amplification was performed using a StepOne Real-Time PCR System (Applied Biosystems, Foster City, CA). Allelic discrimination analysis for the ACSL1 rs6552828 polymorphism was performed with predesigned Applied Biosystems TaqMan SNP Genotyping

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