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

Abstract

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 χ test 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.

Single Nucleotide Polymorphisms and Adolescent Idiopathic Scoliosis

“…Based on the inclusion and exclusion criteria set initially, out of the initial 690 papers extracted, 126 duplicate papers were removed. After the first inclusion/exclusion process 62 papers were considered for full-text review, from which 43 papers with 19412 cases, 22005 controls and 25 different genes were included in the final analysis14–54 (Figure 1). All excluded studies are presented in Supplemental Table 1 (Supplemental Digital Content 1, http://links.lww.com/BRS/C34).…”

Etiology of Adolescent Idiopathic Scoliosis: A Literature Review

“…GLP-1 increases insulin release in the pancreas, enhancing insulin response with bone growth during adolescent development. This further explains the increased prevalence of AIS in individuals with lower BMI values [43,44].…”

Research Article Lack of differences in the expression of the angiotensin I - converting enzyme gene in the rotator muscles of patients with adolescent idiopathic scoliosis in a cross-sectional study comparing between the concave and convex sides of the scoliosis.

“…We analyzed the amplified product by gel electrophoresis to determine the presence or absence of I and D alleles. Because the D allele is preferentially amplified in heterozygotes, each DD genotype was confirmed by a second independent PCR with another primer pair (ECAint: 5'-GTCTCGATCTCCTGACCTCGTG-3' and ECAS: 5'-CTGGAGACCACTCCCATCCTTTCT-3') that amplified a sequence that was specific to the I allele (Wajchenberg et al, 2013;Luciano et al, 2016).…”

“…Polymorphisms are related to the deletion (allele D) or insertion (allele I) of 287 base pairs in intron 16 (Wajchenberg et al, 2013;Luciano et al, 2016). ACE expression levels vary and depend on the presence of these alleles which affect blood supply especially in tissues with high aerobic demand such as the paravertebral muscles (Wajchenberg et al, 2013;Luciano et al, 2016;Almeida et al, 2010). In a genetic study of 25 members of the same family of an AIS patient, 19 individuals had polymorphisms (DD, 76% or ID, 24%) of the ACE gene.…”