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

@article{Prokunina2002ARP,
  title={A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans},
  author={Ludmila Prokunina and Casimiro Castillejo-L{\'o}pez and Fredrik {\"O}berg and Iva Gunnarsson and Louise Berg and Veronica Magnusson and Anthony J. Brookes and Dmitry Tentler and Helga Kristj{\'a}nsd{\'o}ttir and G. Orri Gr{\"o}ndal and Anne Isine Bolstad and Elisabet Svenungsson and Ingrid B. Lundberg and Gunnar K Sturfelt and Andreas J{\"o}nssen and Lennart Truedsson and Guadalupe Lima and Jorge Alcocer-Varela and Roland Jonsson and Ulf Gyllensten and John Barker Harley and Donato Alarc{\'o}n-Segovia and Kristj{\'a}n Steinsson and Marta E. Alarc{\'o}n-Riquelme},
  journal={Nature Genetics},
  year={2002},
  volume={32},
  pages={666-669}
}
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… CONTINUE READING
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