Genetic Sharing with Cardiovascular Disease Risk Factors and Diabetes Reveals Novel Bone Mineral Density Loci.

Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, but the nature of the suggestive comorbidity is still unknown. We used a novel genetic pleiotropy-informed conditional False Discovery Rate (FDR) method to identify single nucleotide polymorphisms (SNPs) associated with BMD by leveraging cardiovascular disease (CVD) associated disorders and metabolic traits. By conditioning on SNPs associated with the CVD-related phenotypes, type 1 diabetes, type 2 diabetes, systolic blood pressure, diastolic blood pressure, high density lipoprotein, low density lipoprotein, triglycerides and waist hip ratio, we identified 65 novel independent BMD loci (26 with femoral neck BMD and 47 with lumbar spine BMD) at conditional FDR < 0.01. Many of the loci were confirmed in genetic expression studies. Genes validated at the mRNA levels were characteristic for the osteoblast/osteocyte lineage, Wnt signaling pathway and bone metabolism. The results provide new insight into genetic mechanisms of variability in BMD, and a better understanding of the genetic underpinnings of clinical comorbidity

Reconstruction and phylogenetic significance of a new Equisetum Linnaeus species from the Lower Jurassic of Cerro Bayo (Chubut province, Argentina)

We describe Equisetum dimorphum sp. nov. from the Lower Jurassic of Chubut Province, Patagonia, Argentina. This new species is based on fertile and vegetative remains preserved as impressions of stems, leaves, strobili, transversal sections of the stems showing their anatomy, and terminal pagoda-like structures. The fine-grained sedimentary matrix also preserved detailed impressions of epidermal features. The morphological characters allow a whole-plant reconstruction and assignment to Equisetum. Equisetum dimorphum sp. nov. shows a mosaic of morphological characters that are commonly present in other Mesozoic forms and representatives of the two extant Equisetum subgenera, e.g., sunken stomata and a blunt strobilus apex. Compared to other well-known Mesozoic equisetalean taxa, Equisetum dimorphum sp. nov. appears to be most closely related to a group of Jurassic Equisetum-like plants including Equisetum laterale Phillips and Equisetites ferganensis Seward. Additional evidence for the morphological stasis of the fertile and vegetative organs of extant horsetails is supplied with this new material, adding further support to the hypothesis that the extant horsetails are a successful group that has undergone only little morphological changeover time and that has been present, nearly worldwide, since Jurassic times.VR 2014-5232 The evolutionary history of fern

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, we estimate the genetic correlation between ALS and schizophrenia to be 14.3% (7.05-21.6; P=1 × 10) with schizophrenia polygenic risk scores explaining up to 0.12% of the variance in ALS (P=8.4 × 10). A modest increase in comorbidity of ALS and schizophrenia is expected given these findings (odds ratio 1.08-1.26) but this would require very large studies to observe epidemiologically. We identify five potential novel ALS-associated loci using conditional false discovery rate analysis. It is likely that shared neurobiological mechanisms between these two disorders will engender novel hypotheses in future preclinical and clinical studies