Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus
| العنوان: | Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus |
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| المؤلفون: | Marta E. Alarcón-Riquelme, So-Yeon Park, So Young Bang, Elena Sánchez, Elizabeth E. Brown, Ajay Nadig, Joan T. Merrill, Bruce C. Richardson, Javier Martin, Kenneth M. Kaufman, Gary S. Gilkeson, Juan-Manuel Anaya, Diane L. Kamen, Timothy B. Niewold, Julie T. Ziegler, John B. Harley, Amr H. Sawalha, Lindsey A. Criswell, Barry I. Freedman, Patrick M. Gaffney, Timothy J. Vyse, Rosalind Ramsey-Goldman, John D. Reveille, Jennifer A. Kelly, Michelle Petri, Betty P. Tsao, Bernardo A. Pons-Estel, Chaim O. Jacob, Luis M. Vilá, Graciela S. Alarcón, Judith A. James, Robert P. Kimberly, Carl D. Langefeld, Sang Cheol Bae, Jeffrey C. Edberg, Kathy L. Moser |
| المصدر: | Repositorio EdocUR-U. Rosario Universidad del Rosario instacron:Universidad del Rosario |
| سنة النشر: | 2011 |
| مصطلحات موضوعية: | Male, Neurologic disease, Unclassified drug, Hispanic, Disease, Cytotoxic T lymphocyte antigen 4, Intermedin 5, CD11b antigen, OX40 ligand, Gene locus, Photosensitivity, STAT4 protein, Discoid lupus erythematosus, Immunology and Allergy, Lupus Erythematosus, Systemic, Mouth ulcer, skin and connective tissue diseases, African American, Oral Ulcer, Priority journal, African Americans, Systemic lupus erythematosus, Discoid, Single Nucleotide, Kidney disease, Middle Aged, Programmed death 1 receptor, Connective tissue disease, Lupus Nephritis, Phenotype, Female, medicine.symptom, Malar rash, Human, Asian Continental Ancestry Group, Adult, Genotype, European Continental Ancestry Group, Immunology, Locus (genetics), Major clinical study, Ancestry-informative marker, FCGR2A, European, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, White People, Article, Hematologic disease, Young Adult, Lupus Erythematosus, Discoid, Rheumatology, Asian People, Intermedin, Methyl cpg binding protein 2, Rash, Genetic susceptibility, Genetic predisposition, medicine, Humans, Genetic Predisposition to Disease, Polymorphism, Inflammation, Asian, Lupus Erythematosus, Ethnic group, business.industry, Systemic, medicine.disease, Gene frequency, Single nucleotide polymorphism, Black or African American, Non receptor protein tyrosine phosphatase 22, Interleukin 21, Onset age, Genetic Loci, business, Fc receptor iia |
| الوصف: | ObjectiveSystemic 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 methods4001 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.ResultsRenal disorder was significantly correlated with the lupus risk allele in ITGAM (p=5.0×10−6, 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 ConclusionSignifi cant associations were found between 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. |
| وصف الملف: | application/pdf |
| تدمد: | 1468-2060 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::152cf903c87ae4accb095c05d522261cTest https://pubmed.ncbi.nlm.nih.gov/21719445Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....152cf903c87ae4accb095c05d522261c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14682060 |
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