Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis.

In this study, we leveraged the combined evidence of rare coding variants and common alleles to identify therapeutic targets for osteoporosis. We undertook a large-scale multiancestry exome-wide association study for estimated bone mineral density, which showed that the burden of rare coding alleles in 19 genes was associated with estimated bone mineral density (P < 3.6 × 10).

Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Body fat distribution is a major, heritable risk factor for cardiometabolic disease, independent of overall adiposity. Using exome-sequencing in 618,375 individuals (including 160,058 non-Europeans) from the UK, Sweden and Mexico, we identify 16 genes associated with fat distribution at exome-wide significance. We show 6-fold larger effect for fat-distribution associated rare coding variants compared with fine-mapped common alleles, enrichment for genes expressed in adipose tissue and causal genes for partial lipodystrophies, and evidence of sex-dimorphism.

Germline Mutations in and Protection against Liver Disease.

Background: Exome sequencing in hundreds of thousands of persons may enable the identification of rare protein-coding genetic variants associated with protection from human diseases like liver cirrhosis, providing a strategy for the discovery of new therapeutic targets.

Methods: We performed a multistage exome sequencing and genetic association analysis to identify genes in which rare protein-coding variants were associated with liver phenotypes. We conducted in vitro experiments to further characterize associations.

Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes.

We determined differential gene expression in response to high glucose in lymphoblastoid cell lines derived from matched individuals with type 1 diabetes with and without retinopathy. Those genes exhibiting the largest difference in glucose response were assessed for association with diabetic retinopathy in a genome-wide association study meta-analysis. Expression quantitative trait loci (eQTLs) of the glucose response genes were tested for association with diabetic retinopathy.

Economic Empowerment and Tolerance of Domestic Violence Among Married Women: A Cross-Sectional Study.

We evaluated whether markers of economic empowerment are associated with a tolerant attitude toward spousal physical violence (SPV) among employed married women in Nigeria. Cross-sectional analyses of responses to the 2013 Nigeria Demographic Health Survey by a nationally representative sample of 3,999 women aged 15 to 49 years who reported being employed and married. Tolerance for SPV was defined as supporting statements with justifications for wife-beating.

The outcomes of nurse practitioner (NP)-Provided home visits: A systematic review.

Background: With the shortage of primary care providers to provide home-based care to the growing number of homebound older adults in the U.S. Nurse Practitioners (NPs) are increasingly utilized to meet the growing demand for home-based care and are now the largest type of primary care providers delivering home-visits.

Single-cell analysis of human embryos reveals diverse patterns of aneuploidy and mosaicism.

Less than half of human zygotes survive to birth, primarily due to aneuploidies of meiotic or mitotic origin. Mitotic errors generate chromosomal mosaicism, defined by multiple cell lineages with distinct chromosome complements. The incidence and impacts of mosaicism in human embryos remain controversial, with most previous studies based on bulk DNA assays or comparisons of multiple biopsies of few embryonic cells.

Home Health Agency Factors Associated With Acute Care Hospitalization and Emergency Department Use.

We linked the Medicare Provider Utilization and Payment Data for Home Health and the Home Health Compare data for the year 2016 to identify home healthcare agency (HHA) characteristics associated with acute care hospitalization (ACH) or emergency department (ED) use. The study cohort consisted of 9,800 HHAs. Beta regression was used to examine the association between average age, race/ethnic composition, number of skilled nursing visits, number of therapy visits, percentage of dual eligible patients, HHA ownership, HHA location, Medicare tenure, proportion of patients with a diagnosis of schizophrenia, stroke, diabetes, depression, chronic obstructive pulmonary disease (COPD), heart failure, cancer and Alzheimer disease, and ACH or ED use.

Author Correction: Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration.

In the version of this article initially published, in Supplementary Data 5, the logFC, FC, P value and adjusted P value for advanced AMD versus control (DE 4/1) without age correction did not correspond to the correct gene IDs. The errors have been corrected in the HTML version of the article.

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration.

Genome-wide association studies (GWAS) have identified genetic variants at 34 loci contributing to age-related macular degeneration (AMD). We generated transcriptional profiles of postmortem retinas from 453 controls and cases at distinct stages of AMD and integrated retinal transcriptomes, covering 13,662 protein-coding and 1,462 noncoding genes, with genotypes at more than 9 million common SNPs for expression quantitative trait loci (eQTL) analysis of a tissue not included in Genotype-Tissue Expression (GTEx) and other large datasets. Cis-eQTL analysis identified 10,474 genes under genetic regulation, including 4,541 eQTLs detected only in the retina.

Ambulatory Medication Reconciliation and Frequency of Hospitalizations and Emergency Department Visits in Patients With Diabetes.

Objective: To investigate the association between ambulatory medication reconciliation and health care utilization in patients with diabetes.

Research Design And Methods: In this retrospective cohort analysis, we studied adults taking at least one diabetes medication treated in primary care practices affiliated with two academic medical centers between 2000 and 2014. We assessed the relationship between the fraction of outpatient diabetes medications reconciled over a 6-month period and the composite primary outcome of combined frequency of emergency department (ED) visits and hospitalizations over the subsequent 6 months.