{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zhao J"],"funding":["BLRD VA","NCATS NIH HHS","NCRR NIH HHS","NIDDK NIH HHS","NIAID NIH HHS","NCI NIH HHS","NIAMS NIH HHS","Wellcome Trust","NIGMS NIH HHS","PHS HHS"],"pagination":["242-52"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4717392"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["75(1)"],"pubmed_abstract":["<h4>Objectives</h4>Systemic lupus erythematosus (SLE; OMIM 152700) is characterised by the production of antibodies to nuclear antigens. We previously identified variants in complement receptor 2 (CR2/CD21) that were associated with decreased risk of SLE. This study aimed to identify the causal variant for this association.<h4>Methods</h4>Genotyped and imputed genetic variants spanning CR2 were assessed for association with SLE in 15 750 case-control subjects from four ancestral groups. Allele-specific functional effects of associated variants were determined using quantitative real-time PCR, quantitative flow cytometry, electrophoretic mobility shift assay (EMSA) and chromatin immunoprecipitation (ChIP)-PCR.<h4>Results</h4>The strongest association signal was detected at rs1876453 in intr"],"journal":["Annals of the rheumatic diseases"],"pubmed_title":["Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA."],"pmcid":["PMC4717392"],"funding_grant_id":["RC1 AR058621","R01AR057172","UL1 TR000154","UL1 TR000430","I01 BX001834","P60AR062755","P60 AR062755","R21AI070304","R01 CA141700","R01AI063274","K24 AI078004","LRPAI071651","UL1 RR024999","U54RR023417","P30 AR053483","K08AI083790","R01AR051545","U01AI101934","T32AR07534","R01 AI070983","UL1 RR029882","R21 AI070304","R01AR042460","P60 AR030692","P30 DK57516","UL1 TR000004","UL1RR025741","R01 AR064820","R01AR043274","UL1 TR001417","T32 AR007534","R01 AR042460","R01 AR043274","UL1 RR025777","U19AI082714","P01AR049084","UL1 RR025014","U01 AI101934","R01AI070983","RC1AR058621","U54 GM104938","UL1 TR000371","P30AR048311","UL1 TR001422","P01AI083194","R01 AR043814","P30GM103510","UL1RR025777","P60AR053308","U19 AI082714","UL1 TR001425","N01 AR062277","UL1RR025014","UL1 TR002319","R01AR43727","P30 AR048311","P20RR020143","UL1RR024999","UL1 RR025741","R37 AI024717","P60 AR053308","R37AI024717","K24AI078004","R01 AR057172","R01 AR033062","R01 AI063274","R01 AR043727","UL1TR000004","P30 GM103510","UL1RR029882","K24AR002138","K08 AI083790","R01CA141700","P30 CA046934","P01 AI083194","R01 AR051545","P30 DK057516","P20 RR020143","K24 AR002138","R01AR043814","P30AR053483","P01 AR049084","R01AR033062","P30AR055385","UL1 TR001082"],"pubmed_authors":["Yette GA","Glenn SB","Taylor RL","Reveille JD","Wu H","Kaufman KM","Ulgiati D","Tsao BP","Comeau ME","Alarcon GS","Lough KM","Criswell LA","James JA","Ramsey-Goldman R","Freedman BI","Merrill JT","Langefeld CD","Adler AJ","Vila LM","Kim D","BIOLUPUS and GENLES Networks","Scofield RH","Williams AH","Ziegler JT","Guthridge JM","Marion M","Niewold TB","Kimberly RP","Alarcon-Riquelme ME","Gaffney PM","Ng HL","Anaya JM","Lee HS","Gilkeson GS","Vyse TJ","Brown EE","Harley JB","Edberg JC","Zhao J","Abraham LJ","Jacob CO","Giles BM","Petri MA","Sivils KM","Bae SC","Stevens AM","Boackle SA","Kelly JA","Kamen DL"],"additional_accession":[]},"is_claimable":false,"name":"Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA.","description":"<h4>Objectives</h4>Systemic lupus erythematosus (SLE; OMIM 152700) is characterised by the production of antibodies to nuclear antigens. We previously identified variants in complement receptor 2 (CR2/CD21) that were associated with decreased risk of SLE. This study aimed to identify the causal variant for this association.<h4>Methods</h4>Genotyped and imputed genetic variants spanning CR2 were assessed for association with SLE in 15 750 case-control subjects from four ancestral groups. Allele-specific functional effects of associated variants were determined using quantitative real-time PCR, quantitative flow cytometry, electrophoretic mobility shift assay (EMSA) and chromatin immunoprecipitation (ChIP)-PCR.<h4>Results</h4>The strongest association signal was detected at rs1876453 in intr","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Jan","modification":"2026-05-05T19:20:22.437Z","creation":"2019-03-27T02:07:06Z"},"accession":"S-EPMC4717392","cross_references":{"pubmed":["25180293"],"doi":["10.1136/annrheumdis-2014-205584"]}}