Polymorphism of the ace gene and the α-actinin-3 gene in adolescent idiopathic scoliosis.
OBJECTIVE
: The I/D polymorphism of angiotensin-converting enzyme (ACE) and R577X of the α-actinin-3 (ACTN3) is related to changes in skeletal muscle function. The aim of this study was to evaluate the distribution of these polymorphisms in a family with multiple members with adolescent idiopathic scoliosis (AIS).


METHODS
: Evaluated 25 subjects from a family with multiple members with AIS, by collecting 10mL of blood for DNA isolation. The genotyping of the I/D polymorphism of the ACE gene and the R577X of the ACTN3 gene was performed using two specific primers to classify individuals as homozygous or heterozygous.


RESULTS
: Regarding the ACE polymorphism it was found that 19 (76%) subjects were DD and 6 (24%) ID. The prevalence of the D allele was 88% and the I allele was 12%. Regarding the ACTN3 polymorphism there were 6 subjects RR (24%), 11 RX (44%) and 8 XX (32%). The prevalence of the R allele was 23 (46%) and the X allele was 27 (54%).


CONCLUSIONS
: There was a difference between the distribution of the polymorphism of ACE and ACTN3 in the family studied. When assessing the ACE polymorphism a higher prevalence of the D allele was observed as compared with the I allele. Level of Evidence III, Cross-sectional, Clinical Trial.
Departmentof Orthopedics and Traumatology of Universidade Federal de São Paulo UNIFESP/EPM, São Paulo, SP, Brazil.
Marcelo
M
Wajchenberg
Departmentof Orthopedics and Traumatology of Universidade Federal de São Paulo UNIFESP/EPM, São Paulo, SP, Brazil.
Rafael de Paiva
Rde P
Luciano
Department of Biophysics of Universidade Federal de São Paulo UNIFESP/EPM, São Paulo, SP, Brazil.
Ronaldo Carvalho
RC
Araújo
Departmentof Orthopedics and Traumatology of Universidade Federal de São Paulo UNIFESP/EPM, São Paulo, SP, Brazil.
Délio Eulálio
DE
Martins
Departmentof Orthopedics and Traumatology of Universidade Federal de São Paulo UNIFESP/EPM, São Paulo, SP, Brazil.
Eduardo Barros
EB
Puertas
Department of Biophysics of Universidade Federal de São Paulo UNIFESP/EPM, São Paulo, SP, Brazil.
Sandro Soares
SS
Almeida
Polymorphism; Scoliosis; Spine; genetic