Associação do polimorfismo I/D do gene da enzima conversora de angiotensina com a Síndrome da Apnéia Obstrutiva do Sono e a Hipertensão Arterial
Data
2007
Autores
Koyama, Renata Guedes 
Orientadores
Mello, Marco Tulio de
Tipo
Dissertação de mestrado
Título da Revista
ISSN da Revista
Título de Volume
Resumo
O gene da enzima conversora de angiotensina (ECA) possui um polimorfismo que e identificado pela presenca (alelo I - insercao) ou ausencia (alelo D - delecao) de um fragmento de 287 pb. O alelo O codifica a ECA, que apresenta alta atividade em relacao alelo I. O alelo O esta associado com o aumento da atividade da ECA e consequente aumento da atividade da angiotensina 11. Varios estudos relatam uma alta prevalencia das doencas cardiovasculares em pacientes com a Sindrome de Apneia Obstrutiva do Sono (SAOS). Portanto, uma associacao entre o polimorfismo da ECA, doencas cardiovasculares e a SAOS e um cenario potencial para a investigacao da interacao entre fatores geneticos e ambientais no desencadeamento de estados patologicos. No presente estudo, verificou-se os parametros do sono em 266 pacientes com SAOS (leve/moderado e grave) divididos em 154 normotensos e 112 hipertensos com relacao ao polimorfismo I/O do gene da ECA. Observamos um aumento da frequencia dos genotipos 10 e DO no grupo pacientes com a SAOS grave e hipertensao comparado ao grupo leve/moderado (X2 = 12,54, p<O,01). A presenca do alelo O aumentou o risco de aproximadamente quatro vezes dos pacientes com SAOS hipertensos desenvolverem apneia grave (OR: 4,95 95 por centoIC = 1,65 - 14,85). Sugerindo uma associacao entre o polimorfismo da ECA e a gravidade da apneia na presenca de hipertensao
The angiotensin-converting enzyme (ACE) gene has a polymorphisms that is identified by the presence (I – insertion) or absence (D – deletion) of a fragment of 287 pb in 16 th intron of the gene, it has been associated with differences in plasma ACE levels. Recent studies have suggested a relationship of this polymorphism with the increase of the hypertension and other cardiovascular diseases (e.g. myocardial infarction, cardiac hypertrophy), therefore the allele D is associated with ACE levels increase and consequent angiotensin II activity increases. Studies show high prevalence of the cardiovascular diseases in patients with the Obstructive Sleep Apnea Syndrome (OSAS). OSAS is a potential setting for the examination of the interaction between genetic and ambient factors in the estabilishment of pathological cardiovascular condition. However the mechanism by which ACE genotype make its of the effects on SAOS and cardiovascular diseases remains unclear. In the present study it was evaluated the respiratory parameter in 266 patients with SAOS grouped in normotenses and hypertenses with regard to polymorphism I/D of the gene of the ACE. We observed increased frequency of the genotypes ID and DD in the severe OSAS and hypertension patients group when compared to mild/moderate group (x2 = 12,54, p<0,01). The presence of D allele increased the risk of approximately four times of the patients with hypertension OSAS to develop severe apnea (OR: 4,95 95%IC = 1,65 – 14,85). Our results show that the D allele is associated to a larger index of apnéia only in hypertensive patients.
The angiotensin-converting enzyme (ACE) gene has a polymorphisms that is identified by the presence (I – insertion) or absence (D – deletion) of a fragment of 287 pb in 16 th intron of the gene, it has been associated with differences in plasma ACE levels. Recent studies have suggested a relationship of this polymorphism with the increase of the hypertension and other cardiovascular diseases (e.g. myocardial infarction, cardiac hypertrophy), therefore the allele D is associated with ACE levels increase and consequent angiotensin II activity increases. Studies show high prevalence of the cardiovascular diseases in patients with the Obstructive Sleep Apnea Syndrome (OSAS). OSAS is a potential setting for the examination of the interaction between genetic and ambient factors in the estabilishment of pathological cardiovascular condition. However the mechanism by which ACE genotype make its of the effects on SAOS and cardiovascular diseases remains unclear. In the present study it was evaluated the respiratory parameter in 266 patients with SAOS grouped in normotenses and hypertenses with regard to polymorphism I/D of the gene of the ACE. We observed increased frequency of the genotypes ID and DD in the severe OSAS and hypertension patients group when compared to mild/moderate group (x2 = 12,54, p<0,01). The presence of D allele increased the risk of approximately four times of the patients with hypertension OSAS to develop severe apnea (OR: 4,95 95%IC = 1,65 – 14,85). Our results show that the D allele is associated to a larger index of apnéia only in hypertensive patients.
Descrição
Citação
KOYAMA, Renata Guedes. Associação do polimorfismo I/D do gene da enzima conversora de angiotensina com a Síndrome da Apnéia Obstrutiva do Sono e a Hipertensão Arterial. 2007. 92 f. Dissertação (Mestrado) - Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, 2007.