Allozyme diversity and geographic variation in the widespread coastal sedge, Carex arenaria

Allozyme electrophoresis was used to investigate the structure of genetic variation in the rhizomatous coastal sedge, Carex arenaria, throughout its European range — from the SW Iberian peninsula to the Baltic region. Material was sampled from 77 sites in five geographic regions. Nine of the 13 investigated loci were polymorphic in the total material and there were interregional differences in the number of polymorphic loci per site and the percentage of variable sites. In the Scandinavia/Baltic region only 61% of the sites contained at least one locus with more than one allele, whereas all the British and SW Iberian sites were variable. There was a general tendency for the regional frequencies of the less common alleles at individual loci to decline from SW to NE. The mean (over loci and sites) within-site gene diversity (H ¯site) was 0.064 (in calculations based on the number of observed multilocus allozyme genotypes within each sampling site). Although there was considerable variation between geographically adjacent sites, within-site diversity showed a general decrease from SW to NE in Europe. There were significant differences in within-region gene diversity (Hreg) for the four most variable loci between the five regions. Hreg generally decreased from SW to NE Europe and most loci showed the highest diversity in the SW Iberian peninsula and the Bay of Biscay regions. The mean (over loci) gene diversity in the total material (Htot) was 0.070 and the levels of diversity in Carex arenaria are substantially lower than is usual in rhizomatous sedges. The within-site, between-site and between-regional components of the total diversity were 92.4%, 2.5% and 5.1%, respectively. The low levels of overall gene diversity in C. arenaria and the successive decrease in diversity from SW to NE are interpreted in terms of the species' history of postglacial spread into northern Europe. Despite the overall northwards decrease in diversity, the widespread occurrence of less common alleles and the lack of regional deviations from Hardy–Weinberg genotype frequency expectations suggest that C. arenaria is not predominantly self-fertilized

The hip fracture incidence curve is shifting to the right: A forecast of the age-quake

Background The number of hip fractures has doubled in the last 30–40 years in many countries. Age-adjusted incidence has been reported to be decreasing in Europe and North America, but is there a decreasing trend in all age groups

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.

We performed fine mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases and 57,574 controls of European ancestry. We identified 49 distinct association signals at these loci, including five mapping in or near KCNQ1. 'Credible sets' of the variants most likely to drive each distinct signal mapped predominantly to noncoding sequence, implying that association with T2D is mediated through gene regulation. Credible set variants were enriched for overlap with FOXA2 chromatin immunoprecipitation binding sites in human islet and liver cells, including at MTNR1B, where fine mapping implicated rs10830963 as driving T2D association. We confirmed that the T2D risk allele for this SNP increases FOXA2-bound enhancer activity in islet- and liver-derived cells. We observed allele-specific differences in NEUROD1 binding in islet-derived cells, consistent with evidence that the T2D risk allele increases islet MTNR1B expression. Our study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which variants underlying association signals exert their effects on disease

A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes

dentification of sequence variants robustly associated with predisposition to diabetic kidney disease (DKD) has the potential to provide insights into the pathophysiological mechanisms responsible. We conducted a genome-wide association study (GWAS) of DKD in type 2 diabetes (T2D) using eight complementary dichotomous and quantitative DKD phenotypes: the principal dichotomous analysis involved 5,717 T2D subjects, 3,345 with DKD. Promising association signals were evaluated in up to 26,827 subjects with T2D (12,710 with DKD). A combined T1D+T2D GWAS was performed using complementary data available for subjects with T1D, which, with replication samples, involved up to 40,340 subjects with diabetes (18,582 with DKD). Analysis of specific DKD phenotypes identified a novel signal near GABRR1 (rs9942471, P = 4.5 x 10(-8)) associated with microalbuminuria in European T2D case subjects. However, no replication of this signal was observed in Asian subjects with T2D or in the equivalent T1D analysis. There was only limited support, in this substantially enlarged analysis, for association at previously reported DKD signals, except for those at UMOD and PRKAG2, both associated with estimated glomerular filtration rate. We conclude that, despite challenges in addressing phenotypic heterogeneity, access to increased sample sizes will continue to provide more robust inference regarding risk variant discovery for DKD.Peer reviewe

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

To extend understanding of the genetic architecture and molecular basis of type 2 diabetes (T2D), we conducted a meta-analysis of genetic variants on the Metabochip involving 34,840 cases and 114,981 controls, overwhelmingly of European descent. We identified ten previously unreported T2D susceptibility loci, including two demonstrating sex-differentiated association. Genome-wide analyses of these data are consistent with a long tail of further common variant loci explaining much of the variation in susceptibility to T2D. Exploration of the enlarged set of susceptibility loci implicates several processes, including CREBBP-related transcription, adipocytokine signalling and cell cycle regulation, in diabetes pathogenesis

Fragmented grasslands on the Baltic island of Öland : Plant community composition and land-use history

The relationships between properties of present landscapes and species diversity within fragmented grasslands have been the subject of many studies. However the potential roles of grassland history and past landscape structure as determinants of diversity have not been widely studied. We therefore focus on these roles with an overview of patterns of variation in plant community composition in grassland fragments, of known ages, within a 22 km2 site around the village of Jordtorp on the Baltic island of Öland. While the frequencies of individual vascular plant species in 328 50 cm × 50 cm quadrats showed trends related to grassland continuity and previous land use, the dominant gradients of plant community composition were interpreted in terms of gradients of soil moisture and eutrophication. Because relationships between grassland age and plant community composition are confounded by local grassland eutrophication, it is difficult to use the present grassland data set to draw conclusions about the extent to which the distributions of individual species reflect a long history of continuous grassland management or an absence of eutrophication. Our results suggest that studies that attempt to explore associations between grassland age and fine-scale species richness, or the occurrence of individual species, should be based on sampling rules that standardize the type of plant community that is to be compared between grassland fragments

Data from: The role of pleiotropy and linkage in genes affecting a sexual ornament and bone allocation in the chicken

Sexual selection and the ornaments that inform such choices have been extensively studied, particularly from a phenotypic perspective. Although more is being revealed about the genetic architecture of sexual ornaments, much still remains to be discovered. The comb of the chicken is one of the most widely recognized sexual ornaments, which has been shown to be correlated with both fecundity and bone allocation. In this study we use a combination of multiple intercrosses between White Leghorn populations and wild-derived Red Junglefowl to firstly map QTL for bone allocation, and secondly to identify eQTL that correlate and colocalise with comb mass. These candidate quantitative genes were then assessed for potential pleiotropic effects on bone tissue and fecundity traits. We identify genes that correlate with both relative comb mass and bone traits suggesting a combination of both pleiotropy and linkage mediate gene regulatory variation of these traits