CCTTT pentanucleotide repeats in inducible nitric oxide synthase gene expression in patients with pulmonary arterial hypertension
Copyright © 2012 SEPAR. Published by Elsevier Espana. All rights reserved..
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 groupsi 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 12repeats) and long forms (≥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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2014 |
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| Erschienen: |
2014 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:50 |
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| Enthalten in: |
Archivos de bronconeumologia - 50(2014), 4 vom: 21. Apr., Seite 141-5 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Baloira Villar, Adolfo [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 04.12.2014 Date Revised 02.04.2014 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.arbres.2013.10.016 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM23461806X |
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| 100 | 1 | |a Baloira Villar, Adolfo |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a CCTTT pentanucleotide repeats in inducible nitric oxide synthase gene expression in patients with pulmonary arterial hypertension |
| 264 | 1 | |c 2014 | |
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| 500 | |a Date Completed 04.12.2014 | ||
| 500 | |a Date Revised 02.04.2014 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2012 SEPAR. Published by Elsevier Espana. All rights reserved. | ||
| 520 | |a 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 | ||
| 520 | |a METHODS: Sixty four patients with a diagnosis of PAH groupsi 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 | ||
| 520 | |a 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 12repeats) and long forms (≥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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Hipertensión arterial pulmonar | |
| 650 | 4 | |a Nitric Oxide Synthase Type II | |
| 650 | 4 | |a Nitric oxide | |
| 650 | 4 | |a Polimorfismo | |
| 650 | 4 | |a Polymorphism | |
| 650 | 4 | |a Pulmonary arterial hypertension | |
| 650 | 4 | |a Sintasa del óxido nítrico tipo II | |
| 650 | 4 | |a Óxido nítrico | |
| 650 | 7 | |a NOS2 protein, human |2 NLM | |
| 650 | 7 | |a EC 1.14.13.39 |2 NLM | |
| 650 | 7 | |a Nitric Oxide Synthase Type II |2 NLM | |
| 650 | 7 | |a EC 1.14.13.39 |2 NLM | |
| 700 | 1 | |a Pousada Fernández, Guillermo |e verfasserin |4 aut | |
| 700 | 1 | |a Vilariño Pombo, Carlos |e verfasserin |4 aut | |
| 700 | 1 | |a Núñez Fernández, Marta |e verfasserin |4 aut | |
| 700 | 1 | |a Cifrián Martínez, Jose |e verfasserin |4 aut | |
| 700 | 1 | |a Valverde Pérez, Diana |e verfasserin |4 aut | |
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