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The genetic determinants of fasting glucose (FG) and fasting insulin (FI) have been studied mostly through genome arrays, resulting in over 100 associated variants. We extended this work with high-coverage whole genome sequencing analyses from fifteen cohorts in NHLBI's Trans-Omics for Precision Medicine (TOPMed) program. Over 23,000 non-diabetic individuals from five race-ethnicities/populations (African, Asian, European, Hispanic and Samoan) were included. Eight variants were significantly associated with FG or FI across previously identified regions MTNR1B, G6PC2, GCK, GCKR and FOXA2. We additionally characterize suggestive associations with FG or FI near previously identified SLC30A8, TCF7L2, and ADCY5 regions as well as APOB, PTPRT, and ROBO1. Functional annotation resources including the Diabetes Epigenome Atlas were compiled for each signal (chromatin states, annotation principal components, and others) to elucidate variant-to-function hypotheses. We provide a catalog of nucleotide-resolution genomic variation spanning intergenic and intronic regions creating a foundation for future sequencing-based investigations of glycemic traits., (© 2022. The Author(s).)

Many common and rare variants associated with hematologic traits have been discovered through imputation on large-scale reference panels. However, the majority of genome-wide association studies (GWASs) have been conducted in Europeans, and determining causal variants has proved challenging. We performed a GWAS of total leukocyte, neutrophil, lymphocyte, monocyte, eosinophil, and basophil counts generated from 109,563,748 variants in the autosomes and the X chromosome in the Trans-Omics for Precision Medicine (TOPMed) program, which included data from 61,802 individuals of diverse ancestry. We discovered and replicated 7 leukocyte trait associations, including (1) the association between a chromosome X, pseudo-autosomal region (PAR), noncoding variant located between cytokine receptor genes (CSF2RA and CLRF2) and lower eosinophil count; and (2) associations between single variants found predominantly among African Americans at the S1PR3 (9q22.1) and HBB (11p15.4) loci and monocyte and lymphocyte counts, respectively. We further provide evidence indicating that the newly discovered eosinophil-lowering chromosome X PAR variant might be associated with reduced susceptibility to common allergic diseases such as atopic dermatitis and asthma. Additionally, we found a burden of very rare FLT3 (13q12.2) variants associated with monocyte counts. Together, these results emphasize the utility of whole-genome sequencing in diverse samples in identifying associations missed by European-ancestry-driven GWASs., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2021 American Society of Human Genetics. All rights reserved.)

Despite persistent disparities in maternity care outcomes, there are limited resources to guide clinical practice and clinician behavior to dismantle biased practices and beliefs, structural and institutional racism, and the policies that perpetuate racism. Focus groups and interviews were held in communities in the United States identified as having higher density of Black births. Focus group and interview themes and codes illuminated Black birthing individual's experience with labor and delivery in the hospital setting. Using an iterative process to refine and incorporate qualitative themes, we created a framework in close collaboration with birth equity stakeholders. This is an actionable, cyclical framework for training on anti-racist maternity care. The Cycle to Respectful Care acknowledges the development and perpetuation of biased healthcare delivery, while providing a solution for dismantling healthcare providers' socialization that results in biased and discriminatory care. The Cycle to Respectful Care is an actionable tool to liberate patients, by way of their healthcare providers, from biased practices and beliefs, structural and institutional racism, and the policies that perpetuate racism.

Background: Genetic factors that influence kidney traits have been understudied for low frequency and ancestry-specific variants., Methods: We combined whole genome sequencing (WGS) data from 23,732 participants from 10 NHLBI Trans-Omics for Precision Medicine (TOPMed) Program multi-ethnic studies to identify novel loci for estimated glomerular filtration rate (eGFR). Participants included European, African, East Asian, and Hispanic ancestries. We applied linear mixed models using a genetic relationship matrix estimated from the WGS data and adjusted for age, sex, study, and ethnicity., Findings: When testing single variants, we identified three novel loci driven by low frequency variants more commonly observed in non-European ancestry (PRKAA2, rs180996919, minor allele frequency [MAF] 0.04%, P = 6.1 × 10 -11 ; METTL8, rs116951054, MAF 0.09%, P = 4.5 × 10 -9 ; and MATK, rs539182790, MAF 0.05%, P = 3.4 × 10 -9 ). We also replicated two known loci for common variants (rs2461702, MAF=0.49, P = 1.2 × 10 -9 , nearest gene GATM, and rs71147340, MAF=0.34, P = 3.3 × 10 -9 , CDK12). Testing aggregated variants within a gene identified the MAF gene. A statistical approach based on local ancestry helped to identify replication samples for ancestry-specific variants., Interpretation: This study highlights challenges in studying variants influencing kidney traits that are low frequency in populations and more common in non-European ancestry., Competing Interests: Declaration of Competing Interest GRA is employed by Regeneron Pharmaceuticals and he owns stock and stock options for Regeneron Pharmaceuticals. BMP serves on the Steering Committee of the Yale Open Data Access Project funded by Johnson & Johnson. BMP reports serving on the Steering Committee of the Yale Open Data Access Project funded by Johnson & Johnson. Y-DIC, LRY, JCM, BDM, JIR, KDT, JPL, EB, JAS, GRA report grants from NIH during the conduct of the study. Remaining authors have nothing to disclose., (Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.)

Objective: To determine if there were racial differences in discharge location among older adults treated for traumatic brain injury (TBI) at a level 1 trauma center., Design: Retrospective cohort study., Setting: R Adams Cowley Shock Trauma Center., Participants: Black and white adults aged ≥65 years treated for TBI between 1998 and 2012 and discharged to home without services or inpatient rehabilitation (N=2902)., Main Outcome Measures: We assessed the association between race and discharge location via logistic regression. Covariates included age, sex, Abbreviated Injury Scale-Head score, insurance type, Glasgow Coma Scale score, and comorbidities., Results: There were 2487 (86%) whites and 415 blacks (14%) in the sample. A total of 1513 (52%) were discharged to inpatient rehabilitation and 1389 (48%) were discharged home without services. In adjusted logistic regression, blacks were more likely to be discharged to inpatient rehabilitation than to home without services compared to whites (odds ratio 1.34, 95% confidence interval, 1.06-1.70)., Conclusions: In this group of Medicare-eligible older adults, blacks were more likely to be discharged to inpatient rehabilitation compared to whites., (Copyright © 2019 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.)

This study investigated the relationship between bonding patterns and self-concept, and the influence of these constructs on a measure of sub-clinical eating disturbances. Undergraduate students from the United States (N=166) and Norway (N=233) were given self-report questionnaires that included measures of parental bonding, locus of control, self-concept clarity, self-esteem, and disturbed cognitions associated with eating. A structural equation model showed the expected pattern, with bonding predicting self-concept and self-concept predicting eating disturbances. The model fit equally well for samples from both countries and for both genders. This model links the pattern of low care and overprotective parental bonding indicators mediated through a self-concept defined by a lack of self-understanding, low self-esteem, and external locus of control to increased risk of eating disturbances for college aged men and women.