Association study of gene polymorphism of angiotensin converting enzyme (ACE) and adolescent idiopathic scoliosis (AIS)

• Grant number: 12/00636-0
• Support Opportunities: Regular Research Grants
• Start date: January 01, 2013
• End date: December 31, 2014
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Eduardo Barros Puertas
• Grantee: Eduardo Barros Puertas
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

Idiopathic scoliosis, defined by lateral deviation of the spine associated with the rotational deviation without a known cause, is one of the most frequent diseases of the spine with an incidence of 0.5% to 10% of the world population. Several factors are suggested as causal, including hereditary factors, but the pattern of inheritance is not known. Some authors claim that the distortion of the spine would be caused by an imbalance of paraspinal musculature. In multifidus and longissimus muscles of the spine predominate type I fibers, with aerobic metabolism that require higher energy demand. The ACE is involved in the physiology of the muscular fibers and has a genetic variant with deletion (D allele) or insertion (I allele) of 287 base pairs. The distribution of these variations in population is approximately 25% II, 50% ID and 25% DD. The ACE is responsible for the genesis of the vasoconstrictor angiotensin II and degradation of bradykinin. Thus, high concentrations of ACE (allele related to "D"), with consequent vasoconstriction, reduce muscle blood flow hurting the muscle groups with a predominance of type I fibers, as the paraspinal muscles, causing a muscle imbalance that could influence the genesis AIS. Material and Methods - To analyze the association between the ACE polymorphism and the presence of AIS will be conducted genotyping of a group of patients with EIA and a control group of healthy subjects. After collecting this data, for statistical evaluation of differences in genotype distribution and allele frequencies in the two groups, will apply the Ç2 test (chi-square) with consequent interpretation of the results. (AU)