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- Prokunina, Ludmila, et al.
(författare)
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A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans
- 2002
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 32:4, s. 666-669
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Recension (övrigt vetenskapligt/konstnärligt)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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| 3. |
- Johansson, Åsa, et al.
(författare)
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Genetic control of collagen-induced arthritis in a cross with NOD and C57Bl/10 mice is dependent on gene regions coding for complement factor 5 and FcγRIIb and is not associated with loci controlling diabetes.
- 2001
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Ingår i: European Journal of Immunology. - 1521-4141. ; 31:6, s. 1847-1856
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Tidskriftsartikel (refereegranskat)abstract
- The nonobese diabetic (NOD) mouse spontaneously develops autoimmune-mediated diseases such as diabetes and Sjögren′s syndrome. To investigate whether NOD genes also promote autoimmune-mediatedarthritis we established a NOD strain with an MHC class II fragment containing the Aq class II gene predisposing for collagen induced arthritis (NOD.Q). However, this mouse was resistant to arthritis in contrast to other Aq expressing strains such as B10.Q and DBA/1. To determine the major resistance factor/s, a genetic analysis was performed. (NOD.Q×B10.Q)F1 mice were resistant, whereas 27% of the (NOD.Q×B10.Q)F2 mice developed severe arthritis. Genetic mapping of 353 F2 mice revealed two loci associated with arthritis. One locus was found on chromosome 2 (LOD score 9.8), at the location of the complement factor 5 (C5) gene. The susceptibility allele was from B10.Q, which contains a productive C5 encoding gene in contrast to NOD.Q. The other significant locus was found on chromosome 1 (LOD score 5.6) close to the Fc-gamma receptor IIb gene, where NOD carried the susceptible allele. An interaction between the two loci was observed, indicating that they operate on the same or on interacting pathways. The genetic control of arthritis is unique in comparison to diabetes, since none of these loci have been identified in analysis of diabetes susceptibility.
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| 7. |
- Sunde, Peter, et al.
(författare)
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Diurnal exposure as a risk sensitive behaviour in tawny owls Strix aluco?
- 2003
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Ingår i: Journal of Avian Biology. - : Wiley. - 0908-8857 .- 1600-048X. ; 34:4, s. 409-418
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Tidskriftsartikel (refereegranskat)abstract
- Tawny owls Strix aluco generally roost in cryptic locations during the day. To test the hypothesis that this cryptic behaviour is an effort to avoid mobbers or avian predators, we measured diurnal behaviour and cause-specific mortality of radio-tagged birds. Non-breeding adults (assumed to be well fed individuals, optimising their own survival) roosted in less exposed locations than adults with young and newly independent juveniles. Parents roosted in the most exposed sites when their young were immature and vulnerable to depredation, probably to guard offspring. Newly independent juveniles apparently selected roosting sites in exposed places to get access to food, as this behaviour was associated with lower perching heights and higher prey abundance beneath their roosting sites. They also perched in more exposed sites, closer to the ground, in summers with low prey abundance compared to summers with high prey abundance. After previous encounters with goshawks Accipiter gentilis, dependent juveniles roosted in less exposed places compared to other young. The increased risk of being mobbed was highly significant with increasing roosting exposure. Once an owl was mobbed, the intensity of the mobbing correlated positively with the mass of the mobbers, but mobbing birds never killed any owls. In contrast, diurnal raptors caused 73% of natural owl deaths (n = 15) and the depredation rate by raptors was 3.8 times higher in population classes that generally roosted in more exposed locations than did non-breeding adults. We therefore suggest that depredation by diurnal raptors is the main factor shaping the diurnal behaviour of tawny owls.
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