Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.

High blood pressure (BP) is more prevalent and contributes to more severe manifestations of cardiovascular disease (CVD) in African Americans than in any other United States ethnic group. Several small African-ancestry (AA) BP genome-wide association studies (GWASs) have been published, but their findings have failed to replicate to date. We report on a large AA BP GWAS meta-analysis that includes 29,378 individuals from 19 discovery cohorts and subsequent replication in additional samples of AA (n = 10,386), European ancestry (EA) (n = 69,395), and East Asian ancestry (n = 19,601). Five loci (EVX1-HOXA, ULK4, RSPO3, PLEKHG1, and SOX6) reached genome-wide significance (p < 1.0 × 10(-8)) for either systolic or diastolic BP in a transethnic meta-analysis after correction for multiple testing. Three of these BP loci (EVX1-HOXA, RSPO3, and PLEKHG1) lack previous associations with BP. We also identified one independent signal in a known BP locus (SOX6) and provide evidence for fine mapping in four additional validated BP loci. We also demonstrate that validated EA BP GWAS loci, considered jointly, show significant effects in AA samples. Consequently, these findings suggest that BP loci might have universal effects across studied populations, demonstrating that multiethnic samples are an essential component in identifying, fine mapping, and understanding their trait variability.

Johnson Brigham, 2002

Brief history of Johnson Brigham, State Librarian for the state of Iowa from 1898-1936. He was an influential leader in the library community and champion of the State Library.

La R+D en investigació liter��ria

Aquesta ponència reflexiona sobre el concepte i l'evolució de la recerca i el desenvolupament (R+D) en investigació liter��ria als territoris de llengua i cultura catalanes. Des de punts de vista quantitatius i qualitatius, s'examinen els agents de recerca involucrats (universitats, instituts i grups de recerca, fundacions, etc.) i els recursos invertits (humans, econòmics i materials), així com els resultats obtinguts (monografies i capítols, revistes i articles, tesis doctorals, comunicacions de congressos, etc.). Les dades s'han obtingut de diverses fonts d'informació, fet que evidencia els importants problemes metodològics en la seva recollida (manca de reculls objectius i sistemàtics, treball manual per recopilar i organitzar la informació adient, etc.). Sempre que és possible, la informació s'estudia segons les diferents àrees geogr��fiques i àmbits d'especialització (literatura contempor��nia; literatura moderna; literatura medieval; i, finalment, estudis transversals i de teoria de la literatura i literatura comparada). Per acabar, s'extreuen algunes conclusions sobre la R+D liter��ria i les seves perspectives de futur.

Miʿr��ğ-i Muḥammadî

Opuscules destinés à la formation d'un ahang (imam chinois).

The International LAM Registry: a component of an innovative web-based clinician, researcher, and patient-driven rare disease research platform.

BACKGROUND: A relative inability to capture a sufficiently large patient population in any one geographic location has traditionally limited research into rare diseases. METHODS AND RESULTS: Clinicians interested in the rare disease lymphangioleiomyomatosis (LAM) have worked with the LAM Treatment Alliance, the MIT Media Lab, and Clozure Associates to cooperate in the design of a state-of-the-art data coordination platform that can be used for clinical trials and other research focused on the global LAM patient population. This platform is a component of a set of web-based resources, including a patient self-report data portal, aimed at accelerating research in rare diseases in a rigorous fashion. CONCLUSIONS: Collaboration between clinicians, researchers, advocacy groups, and patients can create essential community resource infrastructure to accelerate rare disease research. The International LAM Registry is an example of such an effort. 82.

DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.

The length of female reproductive lifespan is associated with multiple adverse outcomes, including breast cancer, cardiovascular disease and infertility. The biological processes that govern the timing of the beginning and end of reproductive life are not well understood. Genetic variants are known to contribute to ∼50% of the variation in both age at menarche and menopause, but to date the known genes explain <15% of the genetic component. We have used genome-wide association in a bivariate meta-analysis of both traits to identify genes involved in determining reproductive lifespan. We observed significant genetic correlation between the two traits using genome-wide complex trait analysis. However, we found no robust statistical evidence for individual variants with an effect on both traits. A novel association with age at menopause was detected for a variant rs1800932 in the mismatch repair gene MSH6 (P = 1.9 × 10(-9)), which was also associated with altered expression levels of MSH6 mRNA in multiple tissues. This study contributes to the growing evidence that DNA repair processes play a key role in ovarian ageing and could be an important therapeutic target for infertility.

Reliure de : Théâtre du paradis, ou Méditations de la gloire céleste, faict italien par le R. P. Matthias Bellintani de Salo et françois par le P. Martial de Riom,...

Numérisation partielle de reliure

Per Lindholm 60 år

Festskrift till Per Lindholm