Research suggests that clinical symptom dimensions may be more useful in delineating the genetics of bipolar disorder (BD) than standard diagnostic models. To date, no study has applied this concept ...to data from genome-wide association studies (GWAS). We performed a GWAS of factor dimensions in 927 clinically well-characterized BD patients of German ancestry. Rs9875793, which is located in an intergenic region of 3q26.1 and in the vicinity of the solute carrier family 2 (facilitated glucose transporter), member 2 gene (SLC2A2), was significantly associated with the factor analysis-derived dimension 'negative mood delusions' (n=927; P=4.65 × 10(-8), odds ratio (OR)=2.66). This dimension was comprised of the symptoms delusions of poverty, delusions of guilt and nihilistic delusions. In case-control analyses, significant association with the G allele of rs9875793 was only observed in the subgroup of BD patients who displayed symptoms of 'negative mood delusions' (allelic χ(2) model: P(G)=0.0001, OR=1.92; item present, n=89). Further support for the hypothesis that rs9875793 is associated with BD in patients displaying 'negative mood delusions' symptom, such as delusions of guilt, was obtained from an European American sample (GAIN/TGEN), which included 1247 BD patients and 1434 controls (P(EA)=0.028, OR=1.27).
Unsustainable exploitation of wild animals is one of the greatest threats to biodiversity and to millions of people depending on wild meat for food and income. The international conservation and ...development community has committed to implementing plans for sustainable use of natural resources and has requested development of monitoring systems of bushmeat offtake and trade. Although offtake monitoring systems and indicators for marine species are more developed, information on harvesting terrestrial species is limited. Building on approaches developed to monitor exploitation of fisheries and population trends, we have proposed two novel indicators for harvested terrestrial species: the mean body mass indicator (MBMI) assessing whether hunters are relying increasingly on smaller species over time, as a measure ofdefaunation, by tracking body mass composition of harvested species within samples across various sites and dates; and the offtake pressure indicator (OPI) as a measure of harvesting pressure on groups of wild animals within a region by combining multiple time series of the number of harvested individuals across species. We applied these two indicators to recently compiled data for West and Central African mammals and birds. Our exploratory analyses show that the MBMI of harvested mammals decreased but that of birds rose between 1966/1975 and 2010. For both mammals and birds the OPI increased substantially during the observed time period. Given our results, time-series data and information collated from multiple sources are useful to investigate trends in body mass of hunted species and offtake volumes. In the absence of comprehensive monitoring systems, we suggest that the two indicators developed in our study are adequate proxies of wildlife offtake, which together with additional data can inform conservation policies and actions at regional and global scales.
Background: Disentangling the etiology of common, complex diseases is a major challenge in genetic research. For bipolar disorder (BD), several genome-wide association studies (GWAS) have been ...performed. Similar to other complex disorders, major breakthroughs in explaining the high heritability of BD through GWAS have remained elusive. To overcome this dilemma, genetic research into BD, has embraced a variety of strategies such as the formation of large consortia to increase sample size and sequencing approaches. Here we advocate a complementary approach making use of already existing GWAS data: a novel data mining procedure to identify yet undetected genotype-phenotype relationships. We adapted association rule mining, a data mining technique traditionally used in retail market research, to identify frequent and characteristic genotype patterns showing strong associations to phenotype clusters. We applied this strategy to three independent GWAS datasets from 2835 phenotypically characterized patients with BD. In a discovery step, 20,882 candidate association rules were extracted. Results: Two of these rulesone associated with eating disorder and the other with anxietyremained significant in an independent dataset after robust correction for multiple testing. Both showed considerable effect sizes (odds ratio similar to 3.4 and 3.0, respectively) and support previously reported molecular biological findings. Conclusion: Our approach detected novel specific genotype-phenotype relationships in BD that were missed by standard analyses like GWAS. While we developed and applied our method within the context of BD gene discovery, it may facilitate identifying highly specific genotype-phenotype relationships in subsets of genome-wide data sets of other complex phenotype with similar epidemiological properties and challenges to gene discovery efforts.
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