Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 방소영 | - |
dc.date.accessioned | 2018-02-12T04:44:09Z | - |
dc.date.available | 2018-02-12T04:44:09Z | - |
dc.date.issued | 2011-06 | - |
dc.identifier.citation | Annals of the Rheumatic Diseases (ANN RHEUM DIS), Oct2011; 70(10): 1752-1757. (6p) | en_US |
dc.identifier.issn | 0003-4967 | - |
dc.identifier.uri | http://ard.bmj.com/content/70/10/1752.full? | - |
dc.identifier.uri | http://hdl.handle.net/20.500.11754/36619 | - |
dc.description.abstract | Objective Systemic lupus erythematosus is a clinically heterogeneous autoimmune disease. A number of genetic loci that increase lupus susceptibility have been established. This study examines if these genetic loci also contribute to the clinical heterogeneity in lupus. Materials and methods 4001 European-derived, 1547 Hispanic, 1590 African-American and 1191 Asian lupus patients were genotyped for 16 confirmed lupus susceptibility loci. Ancestry informative markers were genotyped to calculate and adjust for admixture. The association between the risk allele in each locus was determined and compared in patients with and without the various clinical manifestations included in the ACR criteria. Results Renal disorder was significantly correlated with the lupus risk allele in ITGAM (p=5.0 x 10(-6), OR 1.25, 95% CI 1.12 to 1.35) and in TNFSF4 (p=0.0013, OR 1.14, 95% CI 1.07 to 1.25). Other significant findings include the association between risk alleles in FCGR2A and malar rash (p= 0.0031, OR 1.11, 95% CI 1.17 to 1.33), ITGAM and discoid rash (p= 0.0020, OR 1.20, 95% CI 1.06 to 1.33), STAT4 and protection from oral ulcers (p= 0.0027, OR 0.89, 95% CI 0.83 to 0.96) and IL21 and haematological disorder (p= 0.0027, OR 1.13, 95% CI 1.04 to 1.22). All these associations are significant with a false discovery rate of < 0.05 and pass the significance threshold using Bonferroni correction for multiple testing. Conclusion Significant associations were found between lupus clinical manifestations and the FCGR2A, ITGAM, STAT4, TNSF4 and IL21 genes. The findings suggest that genetic profiling might be a useful tool to predict disease manifestations in lupus patients in the future. | en_US |
dc.description.sponsorship | This work was made possible by the National Institutes of Health R03AI076729, P20RR020143, P20RR015577, P30AR053483, R01AR042460, R37AI024717, R01AI031584, N01AR62277, P50AR048940, P01AI083194, RC1AR058621, U19AI082714, HHSN266200500026C, P30RR031152, P01AR049084, R01AR043274, R01AI063274, K08AI083790, P30DK42086, L30AI071651, UL1RR024999, K24AR002138, P602AR30692, UL1RR025741, R01DE018209, R01AR043727, UL1RR025005, UL1RR029882, P60AR049459, AR043814, P60AR053308, R01AR044804, R01AR052300, M01RR-000079, the Lupus Research Institute, the Arthritis National Research Foundation, American College of Rheumatology/Research and Education Foundation, University of Oklahoma College of Medicine, Kirkland Scholar award, Alliance for Lupus Research, US Department of Veterans Affairs, US Department of Defense PR094002, Federico Wihelm Agricola Foundation, Instituto de Salud Carlos III (PS09/00129), cofinanced partly through FEDER funds of the European Union, grant PI0012 from the Consejeria de Salud de Andalucia, the Swedish Research Council, and Korea Healthcare technology R&D project, Ministry for Health and Welfare, Republic of Korea (A080588). | en_US |
dc.language.iso | en | en_US |
dc.publisher | BMJ PUBLISHING GROUP | en_US |
dc.title | Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus | en_US |
dc.type | Article | en_US |
dc.relation.no | 10 | - |
dc.relation.volume | 70 | - |
dc.identifier.doi | 10.1136/ard.2011.154104 | - |
dc.relation.page | 1752-1757 | - |
dc.relation.journal | ANNALS OF THE RHEUMATIC DISEASES | - |
dc.contributor.googleauthor | Sanchez, Elena | - |
dc.contributor.googleauthor | Nadig, Aja | - |
dc.contributor.googleauthor | Richardson, Bruce | - |
dc.contributor.googleauthor | Freedman, Barry I | - |
dc.contributor.googleauthor | Kaufman, Kenneth M | - |
dc.contributor.googleauthor | Kelly, Jennifer A | - |
dc.contributor.googleauthor | Niewold, Timothy B | - |
dc.contributor.googleauthor | Kamen, Diane L | - |
dc.contributor.googleauthor | Gilkeson, Gary S | - |
dc.contributor.googleauthor | Bang, So-Young | - |
dc.relation.code | 2011200731 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF MEDICINE[S] | - |
dc.sector.department | DEPARTMENT OF MEDICINE | - |
dc.identifier.pid | sybang | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.