Article (Scientific journals)
Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system.
Docampo Martinez, Elisa; Escaramis, Georgia; Gratacos, Monica et al.
2014In Pain, 155 (6), p. 1102-9
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Keywords :
Central Nervous System/pathology/physiology; Cluster Analysis; Cohort Studies; DNA Copy Number Variations/genetics; Female; Fibromyalgia/diagnosis/genetics; Genome-Wide Association Study/methods; Humans; Polymorphism, Single Nucleotide/genetics; CNV; Copy number variants; Fibromyalgia; GWAS; Genome-wide association scan; Single nucleotide polymorphism
Abstract :
[en] Fibromyalgia (FM) is a highly disabling syndrome defined by a low pain threshold and a permanent state of pain. The mechanisms explaining this complex disorder remain unclear, and its genetic factors have not yet been identified. With the aim of elucidating FM genetic susceptibility factors, we selected 313 FM cases having low comorbidities, and we genotyped them on the Illumina 1 million duo array. Genotypic data from 220 control women (Illumina 610k array) was obtained for genome-wide association scan (GWAS) analysis. Copy number variants in FM susceptibility were analyzed by array comparative genomic hybridization (aCGH) experiments on pooled samples using the Agilent 2x400K platform. No single nucleotide polymorphism (SNP) reached GWAS association threshold, but 21 of the most associated SNPs were chosen for replication in 952 cases and 644 controls. Four of the SNPs selected for replication showed a nominal association in the joint analysis, and rs11127292 (MYT1L) was found to be associated to FM with low comorbidities (P=4.28x10(-5), odds ratio [95% confidence interval]=0.58 [0.44-0.75]). aCGH detected 5 differentially hybridized regions. They were followed up, and an intronic deletion in NRXN3 was demonstrated to be associated to female cases of FM with low levels of comorbidities (P=.021, odds ratio [95% confidence interval]=1.46 [1.05-2.04]). Both GWAS and aCGH results point to a role for the central nervous system in FM genetic susceptibility. If the proposed FM candidate genes were further validated in replication studies, this would highlight a neurocognitive involvement in agreement with latest reports.
Disciplines :
Genetics & genetic processes
Author, co-author :
Docampo Martinez, Elisa ;  Université de Liège - ULiège > Cert.IU.gén.hum.
Escaramis, Georgia
Gratacos, Monica
Villatoro, Sergi
Puig, Anna
Kogevinas, Manolis
Collado, Antonio
Carbonell, Jordi
Rivera, Javier
Vidal, Javier
Alegre, Jose
Estivill, Xavier
Rabionet, Raquel
More authors (3 more) Less
Language :
English
Title :
Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system.
Publication date :
2014
Journal title :
Pain
ISSN :
0304-3959
eISSN :
1872-6623
Publisher :
Elsevier, Netherlands
Volume :
155
Issue :
6
Pages :
1102-9
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
Copyright (c) 2014 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.
Available on ORBi :
since 01 February 2016

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