biostudies-literatureZhang ZLos Angeles Fibromyalgia FoundationNCI NIH HHSe0198625https://www.ebi.ac.uk/biostudies/studies/S-EPMC6013222biostudies-literatureUnknown13(6)<h4>Background</h4>Fibromyalgia (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.<h4>Methods and findings</h4>Exome 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 (p< 0.0074), while the CCL4 SNP was not. ThePloS oneSNPs in inflammatory genes CCL11, CCL4 and MEFV in a fibromyalgia family study.PMC6013222P30 CA033572Le KLongmate JShively JESt Amand RPFeng JZhang ZMao ALa Placa DNeuhausen SLMarek CWu XfalseSNPs in inflammatory genes CCL11, CCL4 and MEFV in a fibromyalgia family study.<h4>Background</h4>Fibromyalgia (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.<h4>Methods and findings</h4>Exome 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 (p< 0.0074), while the CCL4 SNP was not. The2018-01-01T00:00:00Z20182026-04-30T10:34:05.033Z2019-03-26T23:45:07ZS-EPMC60132222992794910.1371/journal.pone.0198625