Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.Peer reviewe

DIA1R Is an X-Linked Gene Related to Deleted In Autism-1

Background: Autism spectrum disorders (ASDs) are frequently occurring disorders diagnosed by deficits in three core functional areas: social skills, communication, and behaviours and/or interests. Mental retardation frequently accompanies the most severe forms of ASDs, while overall ASDs are more commonly diagnosed in males. Most ASDs have a genetic origin and one gene recently implicated in the etiology of autism is the Deleted-In-Autism-1 (DIA1) gene. Methodology/Principal Findings: Using a bioinformatics-based approach, we have identified a human gene closely related to DIA1, we term DIA1R (DIA1-Related). While DIA1 is autosomal (chromosome 3, position 3q24), DIA1R localizes to the X chromosome at position Xp11.3 and is known to escape X-inactivation. The gene products are of similar size, with DIA1 encoding 430, and DIA1R 433, residues. At the amino acid level, DIA1 and DIA1R are 62 % similar overall (28 % identical), and both encode signal peptides for targeting to the secretory pathway. Both genes are ubiquitously expressed, including in fetal and adult brain tissue. Conclusions/Significance: Examination of published literature revealed point mutations in DIA1R are associated with X-linked mental retardation (XLMR) and DIA1R deletion is associated with syndromes with ASD-like traits and/or XLMR. Together, these results support a model where the DIA1 and DIA1R gene products regulate molecular traffic through the cellular secretory pathway or affect the function of secreted factors, and functional deficits cause disorders with ASD-lik

A Range of Earth Observation Techniques for Assessing Plant Diversity

AbstractVegetation diversity and health is multidimensional and only partially understood due to its complexity. So far there is no single monitoring approach that can sufficiently assess and predict vegetation health and resilience. To gain a better understanding of the different remote sensing (RS) approaches that are available, this chapter reviews the range of Earth observation (EO) platforms, sensors, and techniques for assessing vegetation diversity. Platforms include close-range EO platforms, spectral laboratories, plant phenomics facilities, ecotrons, wireless sensor networks (WSNs), towers, air- and spaceborne EO platforms, and unmanned aerial systems (UAS). Sensors include spectrometers, optical imaging systems, Light Detection and Ranging (LiDAR), and radar. Applications and approaches to vegetation diversity modeling and mapping with air- and spaceborne EO data are also presented. The chapter concludes with recommendations for the future direction of monitoring vegetation diversity using RS

Routine oral examination: differences in characteristics of Dutch general dental practitioners related to type of recall interval.

Contains fulltext : 48541.pdf (publisher's version ) (Closed access)OBJECTIVES: The aim of this study was to explore differences in behaviour (characteristics and opinions) among general dental practitioners (GDPs), using either a fixed (Fx) or an individualized recall interval (Iv) between successive routine oral examinations (ROEs). METHODS: In the year 2000, data were collected by means of a written questionnaire sent to a random stratified sample of 610 dentists of whom 521 responded, of which 508 (83%) were used for analysis. RESULTS: Two groups of GDPs were distinguished based on their answer to the question: 'Do you apply for all patients a fixed recall interval between two successive ROEs?' Fifty-one per cent of the GDPs (n=257) applied Fxs for all patients, generally for a period of 6 months. Ivs were applied by 49% (n=251) of GDPs, depending on the determination of specific patient characteristics. Logistic regression analysis showed that GDPs applying Fxs also used fixed periods between successive bitewing radiographs for all patients. Furthermore, dentists applying Ivs required more time to conduct an ROE, partly because of a more extensive periodontal screening. GDPs applying Fxs, adhered more to the opinion that a fixed recall regime (every 6 months, as existed before 1995) should be re-introduced, whereas the GDPs in support of Ivs were more in favour to support the opinion that the ROE is 'an excellent instrument for effective, individualized oral care'. CONCLUSIONS: Dutch GDPs differ in the way they deal with the determination of recall interval frequency. These are also specific differences in performance and opinions regarding ROE. With the changing prevalence of oral diseases and the skewed distribution within populations, further research is advocated on consistent decision making to determine the most appropriate recall policy in preventing oral disease