{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Molineros JE"],"funding":["BLRD VA","NIDCR NIH HHS","NCATS NIH HHS","NCRR NIH HHS","NIAID NIH HHS","NLM NIH HHS","NIAMS NIH HHS","NIGMS NIH HHS"],"pagination":["e1003222"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3575474"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9(2)"],"pubmed_abstract":["Systemic lupus erythematosus (SLE) is an inflammatory autoimmune disease with a strong genetic component. African-Americans (AA) are at increased risk of SLE, but the genetic basis of this risk is largely unknown. To identify causal variants in SLE loci in AA, we performed admixture mapping followed by fine mapping in AA and European-Americans (EA). Through genome-wide admixture mapping in AA, we identified a strong SLE susceptibility locus at 2q22-24 (LOD=6.28), and the admixture signal is associated with the European ancestry (ancestry risk ratio ~1.5). Large-scale genotypic analysis on 19,726 individuals of African and European ancestry revealed three independently associated variants in the IFIH1 gene: an intronic variant, rs13023380 [P(meta) = 5.20×10(-14); odds ratio, 95% confidence "],"journal":["PLoS genetics"],"pubmed_title":["Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production."],"pmcid":["PMC3575474"],"funding_grant_id":["UL1 TR000150","AR049084","P20 RR015577","AI024717","I01 BX001834","P60 AR062755","R01 DE018209","AR058554","GM103510","P20 GM103534","P30 AR053483","AR060366","M01 RR000079","RR020143","R01 LM010098","P60 AR030692","UL1 TR000165","AI094377","AI082714","AR33062","R01 AR042460","S10 RR027190","R01 AI024717","U01 AI101934","P50 AR048940","AI083194","R01 LM009012","AR053483","R01 AR043814","M01 RR002635","U19 AI082714","N01 AR062277","U19 AI062629","RR0155577","UL1 RR025741","R21 AI094377","R37 AI024717","P60 AR053308","R01 AR057172","R01 AR033062","RC1 AR058554","P30 GM103510","R01 AR060366","P01 AI083194","AR057172","P20 RR020143","K24 AR002138","P01 AR049084","R01 DE015223","R01 AI031584"],"pubmed_authors":["BIOLUPUS Network","Scofield RH","Sun C","Petri M","Reveille JD","Guthridge JM","Han S","Niewold TB","Kimberly RP","Gaffney PM","Alarcon-Riquelme ME","Kaufman KM","Moore JH","Kim-Howard X","Tsao BP","Gilkeson GS","Vyse TJ","Williams SM","Maiti AK","Brown EE","Harley JB","Glenn S","Edberg JC","Alarcon GS","Jacob CO","Criswell LA","James JA","Ramsey-Goldman R","Freedman BI","Merrill JT","Adler A","Moser KL","Molineros JE","Nath SK","Looger LL","Kelly JA","Vila LM","Langefeld CL"],"additional_accession":[]},"is_claimable":false,"name":"Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production.","description":"Systemic lupus erythematosus (SLE) is an inflammatory autoimmune disease with a strong genetic component. African-Americans (AA) are at increased risk of SLE, but the genetic basis of this risk is largely unknown. To identify causal variants in SLE loci in AA, we performed admixture mapping followed by fine mapping in AA and European-Americans (EA). Through genome-wide admixture mapping in AA, we identified a strong SLE susceptibility locus at 2q22-24 (LOD=6.28), and the admixture signal is associated with the European ancestry (ancestry risk ratio ~1.5). Large-scale genotypic analysis on 19,726 individuals of African and European ancestry revealed three independently associated variants in the IFIH1 gene: an intronic variant, rs13023380 [P(meta) = 5.20×10(-14); odds ratio, 95% confidence ","dates":{"release":"2013-01-01T00:00:00Z","publication":"2013","modification":"2026-05-02T20:43:32.127Z","creation":"2026-04-07T18:25:40.378Z"},"accession":"S-EPMC3575474","cross_references":{"pubmed":["23441136"],"doi":["10.1371/journal.pgen.1003222"]}}