دورية أكاديمية
A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.
| العنوان: | A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. |
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| المؤلفون: | Prokunina, Ludmila, Castillejo-López, Casimiro, Oberg, Fredrik, Gunnarsson, Iva, Berg, Louise, Magnusson, Veronica, Brookes, Anthony J, Tentler, Dmitry, Kristjansdottir, Helga, Grondal, Gerdur, Bolstad, Anne Isine, Svenungsson, Elisabet, Lundberg, Ingrid, Sturfelt, Gunnar, Jönssen, Andreas, Truedsson, Lennart, Lima, Guadalupe, Alcocer-Varela, Jorge, Jonsson, Roland, Gyllensten, Ulf B, Harley, John B, Alarcón-Segovia, Donato, Steinsson, Kristjan, Alarcon-Riquelme, Marta E |
| المساهمون: | Institute of Genetics & Pathology, Section for Medical Genetics, Rudbeck Laboratories, University of Uppsala, Dag Hammarsjölds väg 20, 751 85, Uppsala, Sweden. |
| بيانات النشر: | Nature Pub. Co. |
| سنة النشر: | 2008 |
| المجموعة: | Hirsla - Landspítali University Hospital research archive |
| مصطلحات موضوعية: | 3' Untranslated Regions, Alleles, Amino Acid Substitution, Antigens, CD, Surface, Apoptosis Regulatory Proteins, Base Sequence, Cell Extracts, Cell Nucleus, Female, Gene Frequency, Genetic Predisposition to Disease, Haplotypes, Humans, Jurkat Cells, Leukocytes, Mononuclear, Linkage Disequilibrium, Lod Score, Lupus Erythematosus, Systemic, Molecular Sequence Data, Polymorphism, Genetic, Single Nucleotide, Promoter Regions (Genetics), Tandem Repeat Sequences, Transcription Factors |
| الوصف: | To access publisher full text version of this article. Please click on the hyperlink in Additional Links field ; Systemic lupus erythematosus (SLE, OMIM 152700) is a complex autoimmune disease that affects 0.05% of the Western population, predominantly women. A number of susceptibility loci for SLE have been suggested in different populations, but the nature of the susceptibility genes and mutations is yet to be identified. We previously reported a susceptibility locus (SLEB2) for Nordic multi-case families. Within this locus, the programmed cell death 1 gene (PDCD1, also called PD-1) was considered the strongest candidate for association with the disease. Here, we analyzed 2,510 individuals, including members of five independent sets of families as well as unrelated individuals affected with SLE, for single-nucleotide polymorphisms (SNPs) that we identified in PDCD1. We show that one intronic SNP in PDCD1 is associated with development of SLE in Europeans (found in 12% of affected individuals versus 5% of controls; P = 0.00001, r.r. (relative risk) = 2.6) and Mexicans (found in 7% of affected individuals versus 2% of controls; P = 0.0009, r.r. = 3.5). The associated allele of this SNP alters a binding site for the runt-related transcription factor 1 (RUNX1, also called AML1) located in an intronic enhancer, suggesting a mechanism through which it can contribute to the development of SLE in humans. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1061-4036 |
| العلاقة: | http://dx.doi.org/10.1038/ng1020Test; Nat. Genet. 2002, 32(4):666-9; http://hdl.handle.net/2336/32512Test; Nature genetics |
| DOI: | 10.1038/ng1020 |
| الإتاحة: | https://doi.org/10.1038/ng1020Test http://hdl.handle.net/2336/32512Test |
| رقم الانضمام: | edsbas.6D1986D4 |
| قاعدة البيانات: | BASE |
| تدمد: | 10614036 |
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| DOI: | 10.1038/ng1020 |