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A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.

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Authors
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
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Issue Date
2002-12-01

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Citation
Nat. Genet. 2002, 32(4):666-9
Abstract
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.
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http://dx.doi.org/10.1038/ng1020
ae974a485f413a2113503eed53cd6c53
10.1038/ng1020
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English Journal Articles (Peer Reviewed)

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