Norwegian dairy farmer's preferences for breeding goal traits and associations with herd and farm characteristics

The aims of this study were to investigate variation and clustering in breeding goal trait preferences among Norwegian dairy farmers and to identify factors with a systematic influence on their preferences. An internet-based questionnaire was sent out to dairy farmers connected to the Norwegian co-operative breeding organization Geno (N = 8222), of which 10.8% answered (N = 888). Of the 15 suggested traits fertility had the highest overall ranking, while parasite resistance and methane emission had the lowest. Four distinct preference clusters were identified by the means of cluster analysis, of which two had a high preference for milk production. Differences in terms of farm and herd characteristics between clusters suggests a mixture of systematic and intrinsic effects on breeding goal trait priorities. This study shows that Norwegian dairy farmers’ preferences for breeding goal traits fall into four distinct clusters, both affected by herd and farm characteristics along with intrinsic value

Disappearance of Spontaneous Echographic Contrast after Balloon Mitral Valvuloplasty: An Indicator of Sustained Hemodynamic Improvement

In three patients undergoing mitral balloon valvuloplasty for mitral stenosis transesophageal echocardiography was performed before, immediately after, and 6 months after the procedure. In the one patient with persistent hemodynamically favorable result, the spontaneous echocardiographic contrast, which was seen in all three preoperatively, did not recur; in the other two patients the phenomenon was observed again after 6 months. We conclude that the disappearance of spontaneous echocardiographic contrast might be a functional morphological measure of sustained hemodynamic improvement after balloon mitral valvuloplasty. Copyrigh

Genetic influences on disordered eating behaviour are largely independent of body mass index.

Objective: Prior studies suggest eating disorders and related characteristics are moderately to substantially heritable. We are interested in identifying the genes underlying disordered eating behaviour (DEB), and want to know how much of the genetic influence underlying DEB is attributable to genetic influences on body mass index (BMI). Method: Bivariate analyses were performed, in adolescent twins and siblings, to estimate the genetic and environmental contributions for DEB, BMI, and their overlap. Results: Shared genetic risk factors explained the overlap between BMI and DEB (genetic correlation was 0.43 in women, 0.51 in men). DEB was highly heritable in women (

Visit-to-visit lipid variability: clinical significance, effects of lipid-lowering treatment, and (pharmaco)genetics

In recent years, visit-to-visit variability of serum lipids has been linked to both clinical outcomes and surrogate markers for vascular disease. In this article, we present an overview of the current evidence connecting this intraindividual variability to these outcome measures, discuss its interplay with lipid-lowering treatment, and describe the literature regarding genetic factors of possible interest. In addition, we undertook an explorative genome-wide association analysis on visit-to-visit variability of low-density lipoprotein cholesterol and high-density lipoprotein cholesterol, examining additive effects in 2530 participants from the placebo arm of the PROspective Study of Pravastatin in the Elderly at Risk trial. While we identified suggestive associations (P < 1 × 10−6) at 3 different loci (KIAA0391, amiloride-sensitive cation channel 1 neuronal [ACCN1], and Dickkopf WNT signaling pathway inhibitor 3 [DKK3]), previously published data from the genome-wide association study literature did not suggest plausible mechanistic pathways. Given the large degree of both clinical and methodological heterogeneity in the literature, additional research is needed to harmonize visit-to-visit variability parameters across studies and to definitively assess the possible role of (pharmaco)genetic factors

Age-related DNA methylation changes are tissue-specific with ELOVL2 promoter methylation as exception

Abstract Background The well-established association of chronological age with changes in DNA methylation is primarily founded on the analysis of large sets of blood samples, while conclusions regarding tissue-specificity are typically based on small number of samples, tissues and CpGs. Here, we systematically investigate the tissue-specific character of age-related DNA methylation changes at the level of the CpG, functional genomic region and nearest gene in a large dataset. Results We assembled a compendium of public data, encompassing genome-wide DNA methylation data (Illumina 450k array) on 8092 samples from 16 different tissues, including 7 tissues with moderate to high sample numbers (Dataset size range 96–1202, N total = 2858). In the 7 tissues (brain, buccal, liver, kidney, subcutaneous fat, monocytes and T-helper cells), we identified 7850 differentially methylated positions that gained (gain-aDMPs; cut-offs: P bonf ≤ 0.05, effect size ≥ 2%/10 years) and 4,287 that lost DNA methylation with age (loss-aDMPs), 92% of which had not previously been reported for whole blood. The majority of all aDMPs identified occurred in one tissue only (gain-aDMPs: 85.2%; loss-aDMPs: 97.4%), an effect independent of statistical power. This striking tissue-specificity extended to both the functional genomic regions (defined by chromatin state segmentation) and the nearest gene. However, aDMPs did accumulate in regions with the same functional annotation across tissues, namely polycomb-repressed CpG islands for gain-aDMPs and regions marked by active histone modifications for loss-aDMPs. Conclusion Our analysis shows that age-related DNA methylation changes are highly tissue-specific. These results may guide the development of improved tissue-specific markers of chronological and, perhaps, biological age

Sex Differences in Sum Scores May Be Hard to Interpret: The Importance of Measurement Invariance

In most assessment instruments, distinct items are designed to measure a trait, and the sum score of these items serves as an approximation of an individual’s trait score. In interpreting group differences with respect to sum scores, the instrument should measure the same underlying trait across groups (e.g., male/female, young/old). Differences with respect to the sum score should accurately reflect differences in the latent trait of interest. A necessary condition for this is that the instrument is measurement invariant. In the current study, the authors illustrate a stepwise approach for testing measurement invariance with respect to sex in a four-item instrument designed to assess disordered eating behavior in a large epidemiological sample (1,195 men and 1,507 women). This approach can be applied to other phenotypes for which group differences are expected. Any analysis of such variables may be subject to measurement bias if a lack of measurement invariance between grouping variables goes undetected

PASSion: a pattern growth algorithm-based pipeline for splice junction detection in paired-end RNA-Seq data

Motivation: RNA-seq is a powerful technology for the study of transcriptome profiles that uses deep-sequencing technologies. Moreover, it may be used for cellular phenotyping and help establishing the etiology of diseases characterized by abnormal splicing patterns. In RNA-Seq, the exact nature of splicing events is buried in the reads that span exon–exon boundaries. The accurate and efficient mapping of these reads to the reference genome is a major challenge