• 作者：Adolfo Baloira Villar^a ; ^{adolfo.baloira.villar@sergas.es" class="auth_mail} ; Guillermo Pousada Ferná ; ndez^b ; Carlos Vilariñ ; o Pombo^c ; Marta Nú ; ñ ; ez Ferná ; ndez^a ; Jose Cifriá ; n Mart&iacute ; nez^d ; Diana Valverde Pé ; rez^a
• 关键词：Hipertensió ; n arterial pulmonar ; Ó ; xido n&iacute ; trico ; Polimorfismo ; Sintasa del ó ; xido n&iacute ; trico tipo II
• 刊名：Archivos de Bronconeumolog铆a
• 出版年：April, 2014
• 年：2014
• 卷：50
• 期：4
• 页码：141-145
• 全文大小：877 K

Introduction

One of the pathways involved in pulmonary arterial hypertension (PAH) is the nitric oxide (NO) pathway. A polymorphism in the inducible NO synthase (NOS2) gene has been described, consisting of the CCTTT pentanucleotide repeat, which causes a reduction in NO production. The aim of this study was to determine if this polymorphism increases susceptibility to developing PAH.

Methods

Sixty four patients with a diagnosis of PAH groups i and iv and 50 healthy controls were compared. DNA genotyping of the samples for this polymorphism was performed using PCR. The distribution between both groups was compared and correlated with clinical and haemodynamic parameters and therapeutic response.

Results

A significantly different distribution was observed in the number of repeats between patients and controls (P < .0001). When the samples were categorised by short forms (both alleles with less than 12 repeats) and long forms (鈮?#xA0;12 repeats), it was observed that the former had an almost 4-fold risk of developing PAH (odds ratio: 3.83; 95% CI: 1.19-12.32, P = .024). There were no differences between the most common types of PAH, either in therapeutic response or survival. There was no correlation between haemodynamic parameters and the number of repeats in the patients, and only a weak correlation with systolic PAH.

Conclusions

There are significant differences in the distribution of the NOS2 promotor CCTTT polymorphism between patients with PAH and the healthy population. A minor CCTTT pentanucleotide repeat in the NOS2 gene may increase the risk of developing PAH.