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. 2013 May;21(3):170-4.
doi: 10.1590/S1413-78522013000300009.

Polymorphism of the ace gene and the α-actinin-3 gene in adolescent idiopathic scoliosis

Marcelo Wajchenberg  1 , Rafael de Paiva Luciano  1 , Ronaldo Carvalho Araújo  2 , Délio Eulálio Martins  1 , Eduardo Barros Puertas  1 , Sandro Soares Almeida  2
Affiliations

Polymorphism of the ace gene and the α-actinin-3 gene in adolescent idiopathic scoliosis

Marcelo Wajchenberg et al. Acta Ortop Bras. 2013 May.

Abstract

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%).

Conclusion: : 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.

Keywords: Polymorphism; Scoliosis; Spine; genetic.

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Conflict of interest statement

All the authors declare that there is no potential conflict of interest referring to this article.

Figures

Figure 1
Figure 1. PA radiography of postoperative spinal column of patient IBF 1.
Figure 2
Figure 2. Genogram of the maternal family of patient IBF1.
Figure 3
Figure 3. Genogram of the paternal family of patient IBF1.
See this image and copyright information in PMC

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