PAPARINI, A., M. RIPANI, G. D. GIORDANO, D. SANTONI, F. PIGOZZI, and V. ROMANO-SPICA. ACTN3 Genotyping byReal-Time PCR in the Italian Population and Athletes. Med. Sci. Sports Exerc., Vol. 39, No. 5, pp. 810–815, 2007. Purpose:Development of two novel sets of primers and probes to detect R577X and Q523R polymorphisms of the >-actinin-3 (ACTN3) geneby real-time PCR. We report the allelic frequencies observed in Italian individuals from the general population and athletes. Athleticperformance is influenced by training, environmental factors, and genetic predisposition. Actn3 belongs to a family of actin-bindingproteins and is supposed to influence sport performance. Methods: Primer-probe set design and protocol optimization for real-timePCR genotyping of R577X and Q523R polymorphisms. The assay was verified using a traditional PCR-RFLP approach and appliedon an Italian population sample (102 male subjects and 42 athletes). Results: Haplotype distribution confirmed the presence oflinkage disequilibrium between the polymorphisms, both in the Italian general population and athletes (respectively: W = 54.4, P e0.001 and W = 24.5, P e 0.001). Within the general population, a large percentage of homozygous subjects (21.6%) was deficient forActn3. No significant differences were observed in athletes. The concordance between PCR-RFLP and real-time PCR results was100 and 93% for polymorphisms Q523R and R577X, respectively. Conclusion: Real-time PCR represents an effective approachfor typing ACTN3 alleles. Allelic frequencies in the Italian population are consistent with those seen in other studies on Caucasians.
Paparini, A., Ripani, M., Giordano, G. D., Santoni, D., Pigozzi, F., & Romano-Spica, V. (2007). ACTN3 genotyping by real-time PCR in the Italian population and athletes. Medicine and Science in Sports and Exercise, 39(5), 810-815. https://doi.org/10.1097/mss.0b013e3180317491