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neurocognitive involvement in Fibromyalgia suggest a role for the central nervous system


Senior Member
Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system.

Docampo E1, Escaramís G1, Gratacòs M1, Villatoro S1, Puig A1, Kogevinas M2, Collado A3, Carbonell J4, Rivera J5, Vidal J6, Alegre J7, Estivill X1, Rabionet R8.
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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 genotyped them on the Illumina 1 million duo array. Genotypic data from 220 control females (Illumina 630k array) was obtained for genome-wide association scan (GWAS) analysis.

Copy number variants (CNV) in FM susceptibility were analysed by array comparative genomic hybridization (aCGH) experiments on pooled samples using the Agilent 2x400k platform.

No SNP reached GWAS association threshold, but 21 of the most associated single nucleotide polymorphisms (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, OR (95%CI) = 0.58 (0.44-0.75)). aCGH detected five differentially hybridized regions. They were followed up, and an intronic deletion in NRXN3 showed to be associated to female cases of FM with low levels of comorbidities (p = 0.021, OR (95%CI) = 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.

Copyright © 2014. Published by Elsevier B.V.

CNV, Copy Number Variants, Fibromyalgia, GWAS, Genome-wide Association Scan, Single Nucleotide Polymorphisms