PLoS ONE (Jan 2018)

SNPs in inflammatory genes CCL11, CCL4 and MEFV in a fibromyalgia family study.

  • Zhifang Zhang,
  • Jinong Feng,
  • Allen Mao,
  • Keith Le,
  • Deirdre La Placa,
  • Xiwei Wu,
  • Jeffrey Longmate,
  • Claudia Marek,
  • R Paul St Amand,
  • Susan L Neuhausen,
  • John E Shively

DOI
https://doi.org/10.1371/journal.pone.0198625
Journal volume & issue
Vol. 13, no. 6
p. e0198625

Abstract

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BackgroundFibromyalgia (FM) is a chronic pain syndrome with a high incidence in females that may involve activation of the immune system. We performed exome sequencing on chemokine genes in a region of chromosome 17 identified in a genome-wide family association study.Methods and findingsExome sequence analysis of 100 FM probands was performed at 17p13.3-q25 followed by functional analysis of SNPs found in the chemokine gene locus. Missense SNPs (413) in 17p13.3-q25 were observed in at least 10 probands. SNPs rs1129844 in CCL11 and rs1719152 in CCL4 were associated with elevated plasma chemokine levels in FM. In a transmission disequilibrium test (TDT), rs1129844 was unequally transmitted from parents to their affected children (pConclusionsSNPs with significant TDTs were found in 36% of the cohort for CCL11 and 12% for MEFV, along with a protein variant in CCL4 (41%) that affects CCR5 down-regulation, supporting an immune involvement for FM.