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- Thorburn, C. M., et al.
(författare)
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Association of PDCD1 genetic variation with risk and clinical manifestations of systemic lupus erythematosus in a multiethnic cohort
- 2007
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Ingår i: Genes and Immunity. - : Springer Science and Business Media LLC. - 1466-4879 .- 1476-5470. ; 8:4, s. 279-287
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Tidskriftsartikel (refereegranskat)abstract
- We evaluated the roles of five single-nucleotide polymorphisms (SNPs) within PDCD1, and haplotypes defined by these SNPs, for the development of systemic lupus erythematosus (SLE) and specific sub-phenotypes (nephritis, antiphospholipid antibody positive, arthritis and double-stranded DNA positive) within a multiethnic US cohort of 1036 patients. Family based analyses were performed using 844 simplex families from four ethnic groups (Caucasian, Asian, Hispanic and African American). Subjects were genotyped for five 'tag' SNPs (selected from 15) to provide complete genetic information in all main ethnic groups. We employed transmission disequilibrium testing to assess risk for SLE by allele or haplotype, and multiple logistic regression analysis of SLE cases to examine associations with specific sub-phenotypes. In family based analyses, a haplotype containing the PD1.3A allele was significantly associated with SLE susceptibility among Caucasian families (P=0.01). Among Hispanic families, two novel SNPs were associated with SLE risk (P=0.005 and 0.01). In multivariate logistic regression analyses, five haplotypes were associated with specific sub-phenotypes among the different ethnic groups. These results suggest that PDCD1 genetic variation influences the risk and expression of SLE and that these associations vary according to ethnic background.
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- Campbell, Benjamin, et al.
(författare)
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The 7R polymorphism in the dopamine receptor D(4) gene (DRD4) is associated with financial risk taking in men
- 2009
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Ingår i: Evolution and Human Behavior. - : Elsevier. - 1090-5138. ; 30:2, s. 85-92
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Tidskriftsartikel (refereegranskat)abstract
- Individuals exhibit substantial heterogeneity in financial risk aversion. Recent work on twins demonstrated that some variation is influenced by individual heritable differences. Despite this, there has been no study investigating possible genetic loci associated with financial risk taking in healthy individuals. Here, we examined whether there is an association between financial risk preferences, elicited experimentally in a game with real monetary payoffs, and the presence of the 7-repeat allele (7R+) in the dopamine receptor D(4) gene as well as the presence of the Al allele (Al+) in the dopamine receptor D(2) gene in 94 young men. Although we found no association between the Al allele and risk preferences, we did find that 7R+ men are significantly more risk loving than 7R- men. This polymorphism accounts for roughly 20% of the heritable variation in financial risk taking. We suggest that selection for the 7R allele may be for a behavioral phenotype associated with risk taking. This is consistent with previous evolutionary explanations suggesting that selection for this allele was for behaviors associated with migration and male competition, both of which entail an element of risk. (C) 2009 Elsevier Inc. All rights reserved.
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