729 2617 Board #140 June 3, 9:30 AM - 11:00 AM Deficiency Of α-actinin-3 Is Associated With Increased Incidence Of On Indirect Muscle Disorders/Injuries In Elite Football Players. Myosotis Massidda 1 , Claudia Culigioni 1 , Francesco Piras 2 , Paolo Cugia 2 , Marco Scorcu 2 , Carla M. Calò 1 . 1 University of Cagliari, Monserrato, Italy. 2 Italian Federation of Sports Medicine ( FIMS ) CR Sardinia and Cagliari Calcio SpA , ITALY, Cagliari, Italy. Email: myosotis.massidda@gmail.com (No relationships reported) Homozygosity for a common null polymorphism (R577X) in the ACTN3 gene results in the absence of the fast fibre-specific protein, α-actinin-3 in ~16% of humans worldwide. α-Actinin-3 deficiency is detrimental to sprint and power performance in elite athletes and is associated with decreased force generation and increased susceptibility to eccentric damage. PURPOSE: The aim of this study was to investigate the association between R577X polymorphism in the ACTN3 gene and indirect muscle injuries in elite football players. One hundred and seventy-three male elite Italian football players (age = 19.2 ± 5.3 years) were recruited from a first-league football club participating at the Official National Italian Football Championship (Serie A, Primavera, Allievi, Giovanissimi). The cohort was genotyped for the ACTN3 R577X polymorphism, and muscle injuries data were collected during the period of 2009-2014 (five football seasons). METHODS: Genomic DNA was extracted using a buccal swab, and genotyping was performed using PCR method. Structural-mechanical injuries and functional muscle disorder were included in the acute indirect muscle injury group. RESULTS: Participants with the ACTN3 XX (XX = 2.60 ± 3.70, n = 22) genotype exhibit significantly higher injury incidents compared to participants with the RR genotype (RR = 1.21 ± 2.73, n = 62, P = 0.02). CONCLUSIONS: The ACTN3 R577X polymorphism is associated with the incidence of muscle injuries in elite football players. We anticipate that the knowledge of athletes’ genetic predisposition to sports-related injuries might aid in individualizing training programs. 2618 Board #141 June 3, 9:30 AM - 11:00 AM Association Between Candidate Performance-related Gene Polymorphisms And Strength In Iranian Elite Athletes Rana Fayazmilani 1 , Neda Khaledi 2 , Sareh Arjmand 1 . 1 Shahid Beheshti University, Tehran, Iran, Islamic Republic of. 2 Kharazmi University, Tehran, Iran, Islamic Republic of. Email: r_milani@sbu.ac.ir (No relationships reported) One of the most important elements gives us the potential to individualize as an elite endurance runner or world champion weight lifter is DNA sequence variation. Investigations has discussed that about 66 percent of the variability in the athletic position is under the influence of genetics. There are many sport-related traits which can be explained by common. One of the traits whose heritability may depend on SNPs is maximal muscle strength. Unlike the vast number of studies in genetic profile of endurance performance, the genetic influence on elite strength performance has received less attention. PURPOSE: The purpose of this study was to investigate the relation between the polymorphisms of candidate genes (ACTN3, PGC-1α, ACE, CKMM, and PPARγ) with strength trait in Iranian elite athletes. METHODS: The subjects of this study included 100 Iranian elite athletes from different disciplines, as well as 100 sedentary healthy controls. Body mass index (BMI), waist- hip ratio (WHR), body fat percentage (%BF) has been measured for physical characteristic of subjects. Grip strength test has been conducted to measure maximal strength. Genomic DNA was extracted from saliva. Genetic polymorphism evaluation performed by RFLP and double check with sequencing methods. One-way ANOVA was used to assess differences between genotype groups for investigated phenotypes. RESULTS: Measuring Mean differences showed that %BF (athlete: 12.78±4.48, non-athlete: 17.9±5.84), WHR (athlete: 0.83±0.5, non-athlete: 0.80±0.06) and grip strength (athlete: 49.54±0.5, non-athlete: 40.16±0.8) were significantly different in two groups (P≤0.05). We have shown that ACTN3 (P=0.027), ACE (P=0.001), and CKMM (P=0.041) polymorphisms were significantly associated with strength phenotype in elite athletes. While the ACTN3 (P=0.040) polymorphism was the only one that had a significant association in unsorted control population. CONCLUSIONS: Considering Iranian population as Caucasians, these results may lead us to clarify the polygenic profiles of athletes in this ethnicity, although we have to out spread this study to different disciplines of athletic populations. Further investigations are warranted to study the mechanisms by which these polymorphisms may affect skeletal muscle to produce force. 2619 Board #142 June 3, 9:30 AM - 11:00 AM Identification Of Candidate Genes Contributing To Exercise Performance Phenotype Using Bioinformatics Analysis Scott Habowski 1 , Ellen L. Glickman, FACSM 1 , Kenneth E. Sparks 2 , Helen Piontkivska 1 . 1 Kent State University, Kent, OH. 2 Cleveland State University, Cleveland, OH. (Sponsor: Ellen L. Glickman, FACSM) Email: shabowsk@kent.edu (No relationships reported) PURPOSE: The aim of this study to closely examine putative candidate genes to identify those most likely involved in exercise performance phenotype due to their involvement in the same molecular pathways as genes with multiple known associations. METHODS: A set of 140 genes linked to performance and health-related fitness phenotypes in published studies was used to conduct Gene Ontology (GO) and pathway analysis. We hypothesized that in a manner similar to multifactorial disease phenotypes the same canonical pathway(s) will be enriched in genes implicated in exercise performance phenotype, and that of those, the most likely candidates will be enriched with minor single nucleotide polymorphisms (SNPs). RESULTS: Genes were ranked by the number of published studies related to athletic performance, and top 15 genes were used as a benchmark to identify shared GO annotations and Biocarta and KEGG pathways [including ACE, APOE, LPL]. Pathways were then examined to identify other candidate genes that belong to the same pathways. The top 15 genes were annotated with a significantly larger number of pathways than the bottom 125 genes (median values of 3 versus 1, and 4.5 versus 2, with P values of 0.015 and 0.025 for Biocarta and KEGG, respectively; Kruskal-Wallis test). When individual annotations were considered, 10 genes shared both Biocarta and KEGG pathways, and hence, appear to be the most promising candidates for future studies linking genetic polymorphisms and exercise performance phenotypes [including AGTR1, HIF1A, PLCG1 and PPARA]. Analysis of single nucleotide polymorphisms (SNPs) distributions (per Ensembl Variation 82, GRCh38.p3) revealed that while the average number of SNPs per gene was significantly lower in the top candidate genes, these 15 genes were enriched with SNPs with minor allele frequencies of at least 0.1 compared to the bottom 125 genes (36.6% versus 14.6%, respectively, P = 0.0001, chi-square with Yates correction test). Likewise, identified additional 10 candidates were also enriched with SNPs (23.1% versus 14.6%, respectively, P = 0.0001). CONCLUSIONS: In this study we identified several promising genetic candidates that may be contributing to exercise performance phenotype, which can be used in future genetic studies, including whole-genome or whole-exome genotyping studies. Copyright © 2016 by the American College of Sports Medicine. Unauthorized reproduction of this article is prohibited.