Polimorfismo do gene da eca e da α-actinina 3 na escoliose idiopática do adolescente

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.

Genetic ACE I/D and ACTN3 R577X polymorphisms and adolescent idiopathic scoliosis

“…Our analysis of genotypic frequencies showed the DD genotype and D allele were highest in patients with AIS, in agreement with results reported by Wajchenberg et al (2013) in a family with multiple members with AIS. We also observed that the incidence of the II genotype in healthy individuals was twice that in patients with AIS.…”

“…The human genome contains at least 214 variant gene sequences and genetic markers associated with physical performance and health-related fitness phenotypes (Macarthur and North, 2005). Wajchenberg et al (2013) evaluated polymorphisms in two of these genes, angiotensinconverting enzyme (ACE) and α-actinin-3 (ACTN3), in a family with multiple members suffering from AIS. This family had a higher prevalence of the ACE deletion (D) allele, compared with the insertion (I) allele.…”

Adolescent idiopathic scoliosis: current concepts on neurological and muscular etiologies

“…Thus, another alternative for genetic studies is the use of molecular markers, previously selected and with a known location in the human genome such as SNPs or snips, which are “silent” chromosomal regions, easily located, without phenotypic manifestation and that show variability of heterozygous alleles. Authors like Aulisa et al [ 55 ], Quiu et al [ 56 ], Chen et al [ 57 ] and Wajchenberg et al [ 58 ], carried out studies of genetic polymorphisms trying to relate AIS with changes in certain genes.…”

Impacto da suspensão das cirurgias eletivas em pacientes com escoliose idiopática do adolescente no período da pandemia de covid-19

“…Adolescent idiopathic scoliosis (AIS) is one of the most frequent spinal diseases, with an incidence ranging from 0.5 to 10% in the world population. 1 The spinal instrumentation and fusion procedure for AIS correction is performed frequently in pediatric orthopedic patients. Nevertheless, only 10% of AIS patients require surgical correction.…”

“…A escoliose idiopática do adolescente (EIA) é uma das doenças mais frequentes da coluna vertebral, com relatos de uma incidência entre 0,5 e 10% da população mundial. 1 O procedimento de instrumentação espinhal e fusão utilizado para correção de EIA é uma das cirurgias mais frequentemente realizadas em pacientes ortopédicos pediátricos, embora apenas 10% dos portadores dessa doença necessitem de correção cirúrgica. 2 …”