{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Wiley MM"],"funding":["Intramural NIH HHS","NIDCR NIH HHS","NIA NIH HHS","NIEHS NIH HHS","NIAID NIH HHS","NHLBI NIH HHS","NHGRI NIH HHS","NCI NIH HHS","NIAMS NIH HHS"],"pubmed_abstract":["Fine mapping and bioinformatic analysis of the <i>DDX6-CXCR5</i> genetic risk association in Sjögren's Disease (SjD) and Systemic Lupus Erythematosus (SLE) identified five common SNPs with functional evidence in immune cell types: rs4938573, rs57494551, rs4938572, rs4936443, rs7117261. Functional interrogation of nuclear protein binding affinity, enhancer/promoter regulatory activity, and chromatin-chromatin interactions in immune, salivary gland epithelial, and kidney epithelial cells revealed cell type-specific allelic effects for all five SNPs that expanded regulation beyond effects on <i>DDX6</i> and <i>CXCR5</i> expression. Mapping the local chromatin regulatory network revealed several additional genes of interest, including <i>lnc-PHLDB1-1</i>. Collectively, functional characterizat"],"journal":["bioRxiv : the preprint server for biology"],"pagination":["2023.10.05.561076"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11275775"],"repository":["biostudies-literature"],"pubmed_title":["Variants in the &lt;i&gt;DDX6-CXCR5&lt;/i&gt; autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland."],"pmcid":["PMC11275775"],"funding_grant_id":["UM1 AI144292","Z01 DE000704","R61 AR076803","U01 HG004446","HHSN268201100011I","R01 AR071947","P50 AR060804","HHSN268200782096C","R01 ES011740","P30 AR073750","R03 DE029800","HHSN268201200008I","N01 DE032636","R01 AR074310","R21 AR079089","HHSN268201100011C","RC2 AG036495","HHSN268201200008C","P50 CA097007","R01 AR065953","R01 AR071410","R33 AR076803","R01 AR073855","P50 CA093459","RC4 AG039029","P30 AR070155","R01 CA133996","U01 DE028891"],"pubmed_authors":["Glenn SB","UK Primary Sjögren’s Syndrome Registry","Fugmann C","Wallace DJ","Jonsson R","Norheim KB","Nordmark G","Khanam S","Palm O","Ng WF","Joachims ML","Olsson P","Shiboski CH","Dand N","Tsao BP","Wiley MM","Adrianto I","Martin J","Lessard CJ","Khatri B","Johnsen SJA","Sjowall C","James JA","Criswell LA","Witte T","Sjögren’s International Collaborative Clinical Alliance (SICCA)","Gottenberg JE","Warner BM","Forsblad-d'Elia H","Bjork A","Brun JG","Jensen JL","Ronnblom L","Imgenberg-Kreuz J","Rhodus NL","Engelke F","Grundahl KM","Wahren-Herlenius M","Baecklund E","Rasmussen A","Morris DL","Eriksson P","Skarstein K","Jonsson MV","Scofield RH","Tombleson P","Bucher SM","Kim K","Pers JO","Guthridge JM","Farris AD","Brennan MT","Gaffney PM","Alarcon-Riquelme ME","Stolarczyk AM","Bowman SJ","Anaya JM","Vital EM","Gong C","Vyse TJ","Kvarnstrom M","Nocturne G","Thorlacius GE","Venuturupalli S","Radfar L","Taylor KE","Mariette X","Eloranta ML","Aqrawi LA","Bae SC","Sivils KL","Mandl T","Appel S","Omdal R","Hammenfors D","Kelly JA","Rischmueller M","PRECISESADS Clinical Consortium","Tessneer KL"],"additional_accession":[]},"is_claimable":false,"name":"Variants in the &lt;i&gt;DDX6-CXCR5&lt;/i&gt; autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland.","description":"Fine mapping and bioinformatic analysis of the <i>DDX6-CXCR5</i> genetic risk association in Sjögren's Disease (SjD) and Systemic Lupus Erythematosus (SLE) identified five common SNPs with functional evidence in immune cell types: rs4938573, rs57494551, rs4938572, rs4936443, rs7117261. Functional interrogation of nuclear protein binding affinity, enhancer/promoter regulatory activity, and chromatin-chromatin interactions in immune, salivary gland epithelial, and kidney epithelial cells revealed cell type-specific allelic effects for all five SNPs that expanded regulation beyond effects on <i>DDX6</i> and <i>CXCR5</i> expression. Mapping the local chromatin regulatory network revealed several additional genes of interest, including <i>lnc-PHLDB1-1</i>. Collectively, functional characterizat","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Oct","modification":"2026-04-19T03:16:25.449Z","creation":"2024-11-09T11:01:49.842Z"},"accession":"S-EPMC11275775","cross_references":{"pubmed":["39071447"],"doi":["10.1101/2023.10.05.561076"]}}