Genetic ACE I/D and ACTN3 R577X polymorphisms and adolescent idiopathic scoliosis.
The etiology of adolescent idiopathic scoliosis remains unknown. Angiotensin-converting enzyme and α-actinin-3 polymorphisms influence the characteristics of muscle fibers. The aim of this study was to examine the association between idiopathic scoliosis and genetic polymorphism of angiotensin-converting enzyme and α-actinin-3. Ninety-seven females with scoliosis, and 137 healthy, age-matched control females were studied. The presence of polymorphisms was determined by PCR. A χ2test was used to analyze differences, and odds ratios were estimated. The frequencies of ACE genotypes in the scoliotic group were 46.4% DD, 45.4% ID, and 8.2% II, while in the control group they were 40.1% DD, 43.8% ID, and 16.1% II (P = 0.197). The D allele had a frequency of 69.1% in patients with idiopathic scoliosis and 62% in the control group (P = 0.116). The frequencies of ACTN3 genotypes in females with scoliosis were 31.8% RR, 49.4% RX, and 18.8% XX, while in the control group they were 35% RR, 49% RX, and 16% XX (P = 0.810). The frequency of the R allele was 56.4% in the scoliotic group and 59.6% in the control group (P = 0.518). There was no statistically significant association between angiotensin-converting enzyme or α-actinin-3 polymorphisms and the presence of adolescent idiopathic scoliosis in females.
Departamento de Ortopedia e Traumatologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil rafaelpaivaluciano@gmail.com.
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Luciano
Departamento de Ortopedia e Traumatologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
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Wajchenberg
Departamento de Biofísica, Laboratório de Pesquisa Genética do Exercício e Metabolismo da Universidade Federal de São Paulo, São Paulo, SP, Brasil.
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Almeida
Departamento de Biofísica, Laboratório de Pesquisa Genética do Exercício e Metabolismo da Universidade Federal de São Paulo, São Paulo, SP, Brasil.
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Amorim
Departamento de Ortopedia e Traumatologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
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Rodrigues
Departamento de Biofísica, Laboratório de Pesquisa Genética do Exercício e Metabolismo da Universidade Federal de São Paulo, São Paulo, SP, Brasil.
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Araujo
Departamento de Ortopedia e Traumatologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
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Puertas
Departamento de Ortopedia e Traumatologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
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Faloppa
D000185:Actinin / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D005260:Female; D020022:Genetic Predisposition to Disease; D060005:Genotyping Techniques; D006801:Humans; D054643:INDEL Mutation / Q000235:genetics*; D016017:Odds Ratio; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012600:Scoliosis / Q000235:genetics*; D055815:Young Adult
C118456:ACTN3 protein, human; D000185:Actinin; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A