Common human diseases result from the interplay of many genes and environmental factors. Therefore, a more integrative biology approach is needed to unravel the complexity and causes of such diseases. To elucidate the complexity of common human diseases such as obesity, we have analysed the expression of 23,720 transcripts in large population-based blood and adipose tissue cohorts comprehensively assessed for various phenotypes, including traits related to clinical obesity. In contrast to the blood expression profiles, we observed a marked correlation between gene expression in adipose tissue and obesity-related traits. Genome-wide linkage and association mapping revealed a highly significant genetic component to gene expression traits, including a strong genetic effect of proximal (cis) signals, with 50% of the cis signals overlapping between the two tissues profiled. Here we demonstrate an extensive transcriptional network constructed from the human adipose data that exhibits significant overlap with similar network modules constructed from mouse adipose data. A core network module in humans and mice was identified that is enriched for genes involved in the inflammatory and immune response and has been found to be causally associated to obesity-related traits.
To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10−17), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10−20). rs78378222 is in the 3′ untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3′-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10−6), glioma (OR = 2.35, P = 1.0 × 10−5) and colorectal adenoma (OR = 1.39, P = 1.6 × 10−4). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88–1.27).
The EU Bioeconomy Strategy aims to support the sustainable growth and development of the EU bio-based sectors while creating jobs, innovation and services. Despite the recognized potential of the algae biomass value chain, significant knowledge gaps still exist regarding the dimension, capability, organization and structure of the algae production in Europe. This study presents and analyses the results of a comprehensive mapping and detailed characterization of the algae production at the European scale, encompassing macroalgae, microalgae, and the cyanobacteria Spirulina. This work mapped 447 algae and Spirulina production units spread between 23 countries, which represents an important addition to the reported number of algae producing countries. More than 50% of these companies produce microalgae and/or Spirulina. Macroalgae production is still depending on harvesting from wild stocks (68% of the macroalgae producing units) but macroalgae aquaculture (land-based and at sea) is developing in several countries in Europe currently representing 32% of the macroalgae production units. France, Ireland, and Spain are the top 3 countries in number of macroalgae production units while Germany, Spain, and Italy stand for the top 3 for microalgae. Spirulina producers are predominantly located in France, Italy, Germany, and Spain. Algae and Spirulina biomass is directed primarily for food and food-related applications including the extraction of high-value products for food supplements and nutraceuticals. Algae production in Europe remains limited by a series of technological, regulatory and market-related barriers. Yet, the results of this study emphasize that the European algae sector has a considerable potential for sustainable development as long as the acknowledged economic, social and environmental challenges are addressed.
In a pooled analysis of population-based studies, we found age at IBD onset to vary with sex. Further studies are needed to investigate mechanisms of sex differences in IBD incidence.
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