ACTN3 genotype predicts metabolic, anthropometric and cardiovascular phenotypes in a young, healthy population (711.8)

Abstract

Exercise‐related polymorphisms have played an important role in shaping human evolution. One such polymorphism, ACTN3 R577X, is overrepresented in endurance athletes and centenarians suggesting an association with favorable metabolic health. As such, we examined the influence of ACTN3 genotype on health‐related phenotypes in young subjects (age 18‐35) from the Assessing Inherent Markers for Metabolic syndrome in the Young (AIMMY) study (n=188). Cardiovascular, anthropometric, metabolic and body composition characteristics were assessed. ACTN3 genotype was associated with BMI in a sex specific manner, with null (XX) females having higher scores, while male positive (RR/RX) allele carriers had greater scores compared to XX males (p<0.05). Similarly, body fat percentage and waist circumference measurements were higher in females of the XX genotype compared to RR/RX allele carriers (p<0.05). In males, body circumferences and waist:hip ratio were higher in RR/RX allele carriers compared to XX individuals. Interestingly, Male RR/RX allele carriers had higher blood glucose and diastolic blood pressure than XX males. It was also found that female RR/RX carriers had higher VO2 peak scores than XX females (p<0.05). Metabolic and cardiovascular associations with ACTN3 genotype may offer novel insight into predicted athletic performance and disease risk.