青少年特发性脊柱侧凸中血管紧张素转换酶基因和α-辅肌动蛋白-3基因的多态性
Polymorphism of the ace gene and the α-actinin-3 gene in adolescent idiopathic scoliosis.
作者信息
Wajchenberg Marcelo, Luciano Rafael de Paiva, Araújo Ronaldo Carvalho, Martins Délio Eulálio, Puertas Eduardo Barros, Almeida Sandro Soares
机构信息
Departmentof Orthopedics and Traumatology of Universidade Federal de São Paulo UNIFESP/EPM, São Paulo, SP, Brazil.
Department of Biophysics of Universidade Federal de São Paulo UNIFESP/EPM, São Paulo, SP, Brazil.
出版信息
Acta Ortop Bras. 2013 May;21(3):170-4. doi: 10.1590/S1413-78522013000300009.
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.
目的
血管紧张素转换酶（ACE）的I/D多态性及α-辅肌动蛋白-3（ACTN3）的R577X与骨骼肌功能变化有关。本研究旨在评估这些多态性在一个有多名青少年特发性脊柱侧凸（AIS）患者的家系中的分布情况。
方法
对一个有多名AIS患者的家系中的25名受试者进行评估，采集10mL血液用于DNA分离。使用两种特异性引物对ACE基因的I/D多态性和ACTN3基因的R577X进行基因分型，以将个体分类为纯合子或杂合子。
结果
关于ACE多态性，发现19名（76%）受试者为DD型，6名（24%）为ID型。D等位基因的患病率为88%，I等位基因的患病率为12%。关于ACTN3多态性；有6名受试者为RR型（24%），11名RX型（...44%）和8名XX型（32%）。R等位基因的患病率为23（46%），X等位基因的患病率为27（54%）。
结论
在所研究的家系中，ACE和ACTN3多态性的分布存在差异。在评估ACE多态性时，观察到D等位基因的患病率高于I等位基因。证据水平III，横断面，临床试验。 （注：原文中“11 RX (44%)”处“...”为疑似遗漏信息未完整翻译）
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