{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zhang Z"],"funding":["Los Angeles Fibromyalgia Foundation","NCI NIH HHS"],"pagination":["e0198625"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6013222"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13(6)"],"pubmed_abstract":["<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. The"],"journal":["PloS one"],"pubmed_title":["SNPs in inflammatory genes CCL11, CCL4 and MEFV in a fibromyalgia family study."],"pmcid":["PMC6013222"],"funding_grant_id":["P30 CA033572"],"pubmed_authors":["Le K","Longmate J","Shively JE","St Amand RP","Feng J","Zhang Z","Mao A","La Placa D","Neuhausen SL","Marek C","Wu X"],"additional_accession":[]},"is_claimable":false,"name":"SNPs in inflammatory genes CCL11, CCL4 and MEFV in a fibromyalgia family study.","description":"<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. The","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018","modification":"2026-04-30T10:34:05.033Z","creation":"2019-03-26T23:45:07Z"},"accession":"S-EPMC6013222","cross_references":{"pubmed":["29927949"],"doi":["10.1371/journal.pone.0198625"]}}