Single nucleotide polymorphisms identification in genes associated to muscles strength and type 2 diabetes in an elite athlete using whole exome sequencing: A Case Report

Genetics, nutrition and lifestyle interact to cause type 2 diabetes and obesity. On the other hand, there are conflicting reports about the effect of strength training on cardiovascular health and metabolic factors in professional heaviest-weight-class athletes. The aim of this article was to report single nucleotide changes in some genes associated with muscle strength and type 2 diabetes in an elite heaviest-weight-class athlete using the WES method.

After obtaining written consent from one of the athletes in the men's national weightlifting team, 5 cc of blood was received. After DNA extraction from blood sample, the WES method was used to examine the genes.

Single nucleotide changes in KCNJ11 (rs5213, rs5215, rs1800467, rs5219) and PCK1 (707555) genes were observed in the athlete's genome. New variants (230845794A> G and 230845977G> A) were also observed in the AGT gene and (61564052A> G and (61573761T> C) in the ACE gene. New studies with larger sample sizes are needed to determine the exact association of these variants with muscle strength or type 2 diabetes in elite heaviest-weight-class in weightlifters.