{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Patel ZH"],"funding":["Department of Veteran Affairs and Defense","Arthritis Foundation, Alliance for Lupus Research “Target Identification in Lupus”","Ministry for Health and Welfare","Key Research Program of the Chinese Academy of Sciences","NCATS NIH HHS","Spaulding Paolozzi Autoimmunity Center of Excellence","Program of the Shanghai Commission of Science and Technology","National Institutes of Health","State Key Laboratory of Oncogenes and Related Genes","Lupus Research Alliance “Novel Approaches” Award","NINDS NIH HHS","NIAMS NIH HHS","Kirkland Scholar Award, National Basic Research","SmartState Center of Economic Excellence in Inflammation and Fibrosis","Proyecto de Excelencia of the Junta de Andalucía","Republic of Korea","BLRD VA","NCRR NIH HHS","NIAID NIH HHS","National Natural Science Foundation of China","NIH","Richard M Silver MD Endowment for Inflammation Research","NIDDK NIH HHS","Korea Healthcare technology R&D Project","NIMHD NIH HHS","NHGRI NIH HHS","Cincinnati Children’s Research Foundation Endowed Scholar Award","NIGMS NIH HHS"],"pagination":["2392-2404"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6005081"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["27(13)"],"pubmed_abstract":["Systemic lupus erythematosus (SLE or lupus) (OMIM: 152700) is a chronic autoimmune disease with debilitating inflammation that affects multiple organ systems. The STAT1-STAT4 locus is one of the first and most highly replicated genetic loci associated with lupus risk. We performed a fine-mapping study to identify plausible causal variants within the STAT1-STAT4 locus associated with increased lupus disease risk. Using complementary frequentist and Bayesian approaches in trans-ancestral Discovery and Replication cohorts, we found one variant whose association with lupus risk is supported across ancestries in both the Discovery and Replication cohorts: rs11889341. In B cell lines from patients with lupus and healthy controls, the lupus risk allele of rs11889341 was associated with increased "],"journal":["Human molecular genetics"],"pubmed_title":["A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus."],"pmcid":["PMC6005081"],"funding_grant_id":["12431900703","UL1 TR000077","R01AR057172","I01 BX001834","R01AR064820","UL1 TR002535","R01 AR063124","P30 AR070549","R21HG008186","P60AR064464","S10 RR027015–01","P30 AR053483","R01AR043727","S10RR027015","UL1TR001417","P30 GM110766","R21 AI070304","R01AI082714","P30 AR072579","UL1 TR000004","HG008666","R01AR043274","P30AR070549","P30GM110766","91-14-05","R01AR44804","R01 AI024717","T32 GM063483","P30 AR070155","U54 GM104938","UL1 TR001422","R01AR069572","R01 AR043814","P30GM103510","BX001834","CTS2548","U19 AI082714","N01 AR062277","4T32GM063483","MD007909","R01AR060366","R01 AR072212","R01AI024717","P30 AR073750","R01 AR069572","U01 HG006828","R21 AR065626","81230072","P60 AR053308","K24AI078004","R01 AI063274","UL1TR000004","P30 GM103510","UL1RR029882","R01AR063124","R01 AR060366","1U54TR001353","R01 AR051545","U54GM104938","R01AR62277","R01AR043814","P01 AR049084","P30AR053483","P30AR055385","T32 GM105526","2014CB541901","R01 MD007909","UL1 TR000150","UL1 TR000154","P60AR062755","P60 AR062755","R21AI070304","R01AI063274","K24 AI078004","HG006828","P20 GM103456","U01 HG008666","R01 NS099068","5T32GM105526","TR000077","R01AR051545","U01AI101934","UL1 RR029882","R21 HG008186","GM104938","R01DK107502","U01 AI130830","ULTR000062","R01 AR064820","12JC1406000","UL1 TR001417","2U54MD007587","R01 AR043274","U19AI082714","U01HG008666","U01 AI101934","P01AR49084","UL1TR000154","PR094002","P60AR053308","GM103456","P60AR066464","UL1TR000150","P30 AR072582","HI13C2124","R01AR058959","R01 AR057172","U01AI130830","R01 AR043727","R01 AR056360","K24AR02318","R01AR065626","K24AR002138","R01 DK107502","81421001","P60 AR064464","P01 AI083194","R01AI083194","U54 MD007587","K24 AR002138","KJZD-EW-L01-3","R01AR056360","S10 RR027015","RC2 AR058959","R01NS099068","U01HG006828"],"pubmed_authors":["Glenn SB","Pujato M","Lu X","Marion MC","Wallace DJ","Shen N","Weirauch MT","Reveille JD","Kaufman KM","Tsao BP","Ainsworth HC","Martin J","Comeau ME","Chen X","Alarcon GS","Zoller EE","James JA","Criswell LA","Ramsey-Goldman R","Pons-Estel BA","Freedman BI","Merrill JT","Adler A","Maddox A","Nath SK","Bang SY","Langefeld CD","Lynch A","Vila LM","Magnusen AF","Silverman ED","Scofield RH","Petri M","Lee J","Williams AH","Ziegler JT","Guthridge JM","Kimberly RP","Niewold TB","Forney CR","Gaffney PM","Alarcon-Riquelme ME","Anaya JM","Lee HS","Henrickson M","Gilkeson GS","Vyse TJ","Brunner HI","Brown EE","Wakeland EK","Miller D","Huggins JL","Harley JB","Schroeder C","Namjou B","Raj P","Edberg JC","Jacob CO","Parks L","Patel ZH","Sivils KL","Bae SC","Stevens AM","Boackle SA","Cunninghame Graham D","Kelly JA","Kottyan LC","Kamen DL","Weisman MH"],"additional_accession":[]},"is_claimable":false,"name":"A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.","description":"Systemic lupus erythematosus (SLE or lupus) (OMIM: 152700) is a chronic autoimmune disease with debilitating inflammation that affects multiple organ systems. The STAT1-STAT4 locus is one of the first and most highly replicated genetic loci associated with lupus risk. We performed a fine-mapping study to identify plausible causal variants within the STAT1-STAT4 locus associated with increased lupus disease risk. Using complementary frequentist and Bayesian approaches in trans-ancestral Discovery and Replication cohorts, we found one variant whose association with lupus risk is supported across ancestries in both the Discovery and Replication cohorts: rs11889341. In B cell lines from patients with lupus and healthy controls, the lupus risk allele of rs11889341 was associated with increased ","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Jul","modification":"2026-05-04T20:46:45.094Z","creation":"2019-07-24T07:21:22Z"},"accession":"S-EPMC6005081","cross_references":{"pubmed":["29912393"],"doi":["10.1093/hmg/ddy140"]}}