Low-frequency variants in genes involved in glutamic acid metabolism and γ-glutamyl cycle and risk of coronary artery disease in type 2 diabetes
Authors' conclusion
In summary, we have identified low-frequency variants associated with CAD in T2D at two loci involved in glutamic acid metabolism and the γ-glutamyl cycle. These findings provide further evidence for a role of these pathways in the link between T2D and CAD.
Study context
- Population
- Individuals with T2D from three coronary artery disease (CAD) case/control setsthree case/control sets
- Participants
- 2,394 individuals
- Comparison
- Low-frequency variants (MAF <0.05) in GLUL and additional glutamic acid metabolism/γ-glutamyl cycle genes, CAD cases vs controls in T2D
- Outcome
- Association of low-frequency variants (MAF <0.05) in GLUL and 15 additional pathway genes with CAD
Methodological detailscase/control, targeted sequencing, discovery and replication sets
- Case/control
- Targeted sequencing
- Discovery and replication sets
Main finding
As reported in the abstract
Variants with MAF <0.05 nominally associated with CAD
96
rs62447457 (MAF 0.025), flanking GGCT; nominal replication in two other case-control sets (n = 1,132): summary OR
0.54
p = 2.5 × 10-4
rs145322388 (MAF = 0.039), flanking DPEP2; across discovery and replication sets: summary OR
0.61
p = 2.5 × 10-4
rs1238275622 (MAF 0.004), flanking GLUL; increased CAD risk: summary OR
1.84
p-value 2.1 × 10–3
Further findings
Regulome scores of the three variants
- Regulome scores (rs62447457, rs145322388, rs1238275622, respectively); all very likely regulatory
- 2b, 2a, and 3a
Original publication
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