Rafael de Paiva Luciano

Rafael de Paiva Luciano

Federal University of Sao Paulo, Brazil

Title: ACE/ACTN3 polymorphisms and idiopathic scoliosis


Rafael de Paiva Luciano has completed his Master degree from Federal University of Sao Paulo. He has published papers in reputed journals and has been serving as an editorial board member of repute.


Purpose: The etiology of adolescent idiopathic scoliosis (AIS) remains unknown. Angiotensin-converting enzyme (ACE) and α-actinin-3 (ACTN3) polymorphisms influence the characteristics of muscle fibers. The aim of the study was to examine the association between AIS and genetic polymorphism of ACE and ACTN3. Methods: 97 females with AIS and 137 healthy age-matched control females were studied. The presence of ACE and ACTN3 polymorphisms was determined by PCR. A χ2 test was used to analyze differences and odds ratios were estimated. Results: The frequencies of ACE genotypes in the AIS group were 46.4% DD, 45.4% ID, and 8.2% II, while in controls they were 40.1% DD, 43.8% ID, and 16.1% II (p = 0.197). The D allele in AIS patients had a frequency of 69.1% and 62% in the controls (p = 0.116). The frequencies of ACTN3 genotypes in the AIS were 31.8% RR, 49.4% RX, and 18.8% XX, while in controls they were 35% RR, 49% RX, and 16% XX (p = 0.810). The frequency of the R allele was 56.4% in the AIS group and 59.61% in the controls (p = 0.585). Conclusions: There was no statistically significant association between ACE and ACTN3 polymorphisms and presence of AIS in females.