Publications
Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program
Sarnowski, C et al.
Am J Hum Genet. 2019 Oct 3;105(4):706-718. doi: 10.1016/j.ajhg.2019.08.010
Phenotypes
- HbA1c
Subjects
| Subjects | Cohort (Click to view selection criteria) | Ancestry |
|---|---|---|
| 151 | The Old Order Amish Community Study (Amish) | European |
| 2,415 | The Atherosclerosis Risk in Communities Study (ARIC) | Mixed |
| 2,236 | The Framingham Heart Study (FHS) | European |
| 2,356 | The Jackson Heart Study (JHS) | African American |
| 3,180 | The Multi-Ethnic Study of Atherosclerosis (MESA) | Mixed |
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Project
The NHLBI Trans-Omics for Precision Medicine program (TOPMed) integrates whole-genome sequencing with other 'omics data to improve scientific understanding of heart, lung, blood, and sleep disorders.
Experiment summary
Meta-analysis of HbA1c associations in 10,338 participants from TOPMed was performed using METAL. Adjustments were made in each ancestry for sex, age at HbA1c measurement, and study.
Acknowledgments
Whole genome sequencing (WGS) for the Trans-Omics in Precision Medicine (TOPMed) program was supported by the National Heart, Lung and Blood Institute (NHLBI). WGS for "NHLBI TOPMed: Genetics of Cardiometabolic Health in the Amish (phs000956.v1.p1) was performed at the Broad Institute of MIT and Harvard (3R01HL121007-01S1). WGS for "NHLBI TOPMed: Trans-Omics for Precision Medicine Whole Genome Sequencing Project: ARIC (phs001211.v1.p1) was performed at the Broad Institute of MIT and Harvard and at the Baylor Human Genome Sequencing Center (3R01HL092577-06S1 (Broad, AFGen), HHSN268201500015C (Baylor, VTE), 3U54HG003273-12S2 (Baylor, VTE)). WGS for "NHLBI TOPMed: Whole Genome Sequencing and Related Phenotypes in the Framingham Heart Study (phs000974.v1.p1) was performed at the Broad Institute of MIT and Harvard (3R01HL092577-06S1 (AFGen)). WGS for "NHLBI TOPMed: The Jackson Heart Study (phs000964.v1.p1) was performed at the University of Washington Northwest Genomics Center (HHSN268201100037C). WGS for "NHLBI TOPMed: MESA and MESA Family AA-CAC (phs001416) was performed at the Broad Institute of MIT and Harvard (3U54HG003067-13S1 (MESA, TOPMed supplement to NHGRI), HHSN268201500014C (Broad, AA_CAC)). Centralized read mapping and genotype calling, along with variant quality metrics and filtering were provided by the TOPMed Informatics Research Center (3R01HL-117626-02S1). Phenotype harmonization, data management, sample-identity QC, and general study coordination, were provided by the TOPMed Data Coordinating Center (3R01HL-120393-02S1). We gratefully acknowledge the studies and participants who provided biological samples and data for TOPMed. The contributions of the investigators of the NHLBI TOPMed Consortium are gratefully acknowledged.
External links to TOPMed HbA1c WGS results
These data are also available in dbGaP under the following accessions: phs000956.v3.p1; phs001211.v2.p2; phs000974.v3.p2; phs000964.v3.p1; phs001416.v1.p1.