CAMP GWAS

Dataset phenotypes

Phase 1 analysis:

type 2 diabetes
type 2 diabetes adjusted for BMI
fasting glucose
fasting glucose adjusted for BMI
fasting insulin
fasting insulin adjusted for BMI
HbA1c
HbA1c adjusted for BMI

Phase 2 analysis:

diastolic blood pressure
BMI
systolic blood pressure
HDL cholesterol
LDL cholesterol

Dataset subjects

Cases

Controls

Cohort

Ancestry

540

2,913

Massachusetts General Hospital Cardiology and Metabolic Patient cohort (CAMP MGH)

Mixed

Project

This work was performed at Pfizer Inc. and Massachusetts General Hospital as part of a public-private partnership to generate genotype data for a cardiometabolic and prediabetic cohort.

Experiment summary

The MGH Cardiology and Metabolic Patient (CAMP MGH) cohort comprises 3,857 subjects recruited between 2008 and 2012. Approximately 86% of subjects were of European ancestry; 10% were African American; 2% were admixed American; 1% were East Asian; and 1% were South Asian. Two thirds of the subjects were drawn from patients who had appointments with a physician in the MGH Heart Center, while one third were recruited independent of any hospital visit. All subjects had plasma and serum samples collected, as well as blood for genomic DNA. Subjects with known diabetes had vascular reactivity measurements (FMD of brachial artery), while subjects without known diabetes had an oral glucose tolerance test. Exome Core Chip genotyping was performed on all subjects.

Overview of analysis and results

Data were analyzed by the Analysis Team at the Accelerating Medicines Partnership Data Coordinating Center (AMP-DCC), Broad Institute, using Loamstream software and the AMP-DCC Data Analysis Pipeline. Results are summarized below; see the Quality Control and Analysis Reports (links below) for full details.

No T2D associations reached genome-wide significance in either the BMI-unadjusted or BMI-adjusted models. In each model, one of the top 20 associations had been previously identified.

No fasting glucose associations reached genome-wide significance in either the BMI-unadjusted or BMI-adjusted models. In each model, 3 of the top 20 associations had been previously identified.

For fasting insulin and HbA1c levels, no associations reached genome-wide significance in either model, and none had been previously identified.

No associations with diastolic or systolic blood pressure reached genome-wide significance, and none of the top 20 associations had been previously identified.

For BMI, no associations reached genome-wide significance; one among the top 20 had been previously identified.

One previously known HDL cholesterol association reached genome-wide significance: rs247616, in the region of the CETP gene, with a p-value of 2.09 × 10⁻¹³. Among the top 20 HDL associations, one other had been identified previously.

Two previously identified associations with LDL cholesterol reached genome-wide significance: rs7412 in the region of the APOE gene, with a p-value of 4.69 × 10⁻¹⁷, and rs445925 in the region of the APOC1 gene, with a p-value of 2.07 × 10⁻⁹. No other associations among the top 20 had been previously identified.