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- Rioux, John D., et al.
(författare)
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Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease
- 2001
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 29:2, s. 223-228
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Tidskriftsartikel (refereegranskat)abstract
- Linkage disequilibrium (LD) mapping provides a powerful method for fine-structure localization of rare disease genes, but has not yet been widely applied to common disease1. We sought to design a systematic approach for LD mapping and apply it to the localization of a gene (IBD5) conferring susceptibility to Crohn disease. The key issues are: (i) to detect a significant LD signal (ii) to rigorously bound the critical region and (iii) to identify the causal genetic variant within this region. We previously mapped the IBD5 locus to a large region spanning 18 cM of chromosome 5q31 (P<10−4). Using dense genetic maps of microsatellite markers and single-nucleotide polymorphisms (SNPs) across the entire region, we found strong evidence of LD. We bound the region to a common haplotype spanning 250 kb that shows strong association with the disease (P<2×10−7) and contains the cytokine gene cluster. This finding provides overwhelming evidence that a specific common haplotype of the cytokine region in 5q31 confers susceptibility to Crohn disease. However, genetic evidence alone is not sufficient to identify the causal mutation within this region, as strong LD across the region results in multiple SNPs having equivalent genetic evidence—each consistent with the expected properties of the IBD5 locus. These results have important implications for Crohn disease in particular and LD mapping in general.
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| 4. |
- Hagger, Martin S., et al.
(författare)
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Physical self-perceptions in adolescence : Generalizability of a hierarchical multidimensional model across three cultures
- 2003
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Ingår i: Journal of Cross-Cultural Psychology. - Beverly Hills, CA : Sage Publications. - 0022-0221 .- 1552-5422. ; 34:6, s. 611-628
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Tidskriftsartikel (refereegranskat)abstract
- This study examines the generalizability of the form, structural parameters, and latent means of a hierarchical multidimensional model of physical self-perceptions in adolescents from three cultures. A children's version of the physical self-perception profile (PSPP-C) was administered to samples of British, Hong Kong, and Russian high school students. A structural equation model that hypothesized a hierarchical structure with global self-esteem as a superordinate construct and physical self-worth as a domain-level construct governing the PSPP-C subdomains fit the data adequately. Tests of the cross-cultural generalizability of the proposed model supported the invariance of the factor pattern and model parameters across the samples. Latent means analysis suggested that the factor means were significantly higher in the British sample, a finding that supports the results of cross-cultural studies of self-esteem in other domains.
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