Pharmacogenomic study in patients with multiple sclerosis

Pharmacogenomic study in patients with multiple sclerosis

Bustamante, Marta F. et al.

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Main Authors: Bustamante, Marta F., Morcillo-Suárez, Carlos, Farré, Xavier, Navarro, Arcadi, Comabella, Manuel
Format: artículo biblioteca
Language:English
Published: Lippincott Williams & Wilkins 2015-10
Online Access:http://hdl.handle.net/10261/152058
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spelling dig-ibe-es-10261-1520582018-10-03T07:44:33Z Pharmacogenomic study in patients with multiple sclerosis Responders and nonresponders to IFN-β Bustamante, Marta F. Morcillo-Suárez, Carlos Farré, Xavier Navarro, Arcadi Comabella, Manuel Bustamante, Marta F. et al. [Objectives] We aimed to investigate the association between polymorphisms located in type I interferon (IFN)-induced genes, genes belonging to the toll-like receptor (TLR) pathway, and genes encoding neurotransmitter receptors and the response to IFN-β treatment in patients with multiple sclerosis (MS). [Methods] In a first or screening phase of the study, 384 polymorphisms were genotyped in 830 patients with MS classified into IFN-β responders (n = 416) and nonresponders (n = 414) according to clinical criteria. In a second or validation phase, the most significant polymorphisms associated with IFN-β response were genotyped in an independent validation cohort of 555 patients with MS (281 IFN-β responders and 274 nonresponders). [Results] Seven single nucleotide polymorphisms (SNPs) were selected from the screening phase for further validation: rs832032 (GABRR3; p = 0.0006), rs6597 (STUB1; p = 0.019), rs3747517 (IFIH1; p = 0.010), rs2277302 (PELI3; p = 0.017), rs10958713 (IKBKB; p = 0.003), rs2834202 (IFNAR1; p = 0.030), and rs4422395 (CXCL1; p = 0.017). None of these SNPs were significantly associated with IFN-β response when genotyped in an independent cohort of patients. Combined analysis of these SNPs in all patients with MS (N = 1,385) revealed 2 polymorphisms associated with IFN-β response: rs2277302 (PELI3; p = 0.008) and rs832032 (GABRR3; p = 0.006). [Conclusions] These findings do not support an association between polymorphisms located in genes related to the type I IFN or TLR pathways or genes encoding neurotransmitter receptors and the clinical response to IFN-β. Nevertheless, additional genetic and functional studies of PELI3 and GABRR3 are warranted. Peer reviewed 2017-06-27T07:59:41Z 2017-06-27T07:59:41Z 2015-10 artículo http://purl.org/coar/resource_type/c_6501 Neurology, Neuroimmunology and Neuroinflammation 2(5): e154 (2015) 2332-7812 http://hdl.handle.net/10261/152058 ​10.​1212/​NXI.​0000000000000154 en Publisher's version http://doi.org/​10.​1212/​NXI.​0000000000000154 Sí open Lippincott Williams & Wilkins
institution IBE ES
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country España
countrycode ES
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access En linea
databasecode dig-ibe-es
tag biblioteca
region Europa del Sur
libraryname Biblioteca del IBE España
language English
description Bustamante, Marta F. et al.
format artículo
author Bustamante, Marta F.
Morcillo-Suárez, Carlos
Farré, Xavier
Navarro, Arcadi
Comabella, Manuel
spellingShingle Bustamante, Marta F.
Morcillo-Suárez, Carlos
Farré, Xavier
Navarro, Arcadi
Comabella, Manuel
Pharmacogenomic study in patients with multiple sclerosis
author_facet Bustamante, Marta F.
Morcillo-Suárez, Carlos
Farré, Xavier
Navarro, Arcadi
Comabella, Manuel
author_sort Bustamante, Marta F.
title Pharmacogenomic study in patients with multiple sclerosis
title_short Pharmacogenomic study in patients with multiple sclerosis
title_full Pharmacogenomic study in patients with multiple sclerosis
title_fullStr Pharmacogenomic study in patients with multiple sclerosis
title_full_unstemmed Pharmacogenomic study in patients with multiple sclerosis
title_sort pharmacogenomic study in patients with multiple sclerosis
publisher Lippincott Williams & Wilkins
publishDate 2015-10
url http://hdl.handle.net/10261/152058
work_keys_str_mv AT bustamantemartaf pharmacogenomicstudyinpatientswithmultiplesclerosis
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AT farrexavier pharmacogenomicstudyinpatientswithmultiplesclerosis
AT navarroarcadi pharmacogenomicstudyinpatientswithmultiplesclerosis
AT comabellamanuel pharmacogenomicstudyinpatientswithmultiplesclerosis
AT bustamantemartaf respondersandnonresponderstoifnb
AT morcillosuarezcarlos respondersandnonresponderstoifnb
AT farrexavier respondersandnonresponderstoifnb
AT navarroarcadi respondersandnonresponderstoifnb
AT comabellamanuel respondersandnonresponderstoifnb
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