rs10784762 (CPM-CPSF6): ECG Traits Variant

Key takeaways

• rs10784762 sits in the genomic region spanning CPM (Carboxypeptidase M) and CPSF6 (Cleavage and Polyadenylation Specific Factor 6)
• This variant was examined in a genome-wide association study of electrocardiographic traits in African Americans
• The study drew on electronic medical records from 455 African American participants across two biobanks
• ECG traits studied included PR interval, QRS duration, QT interval, and heart rate
• Specific association statistics for this variant are not present in the available study text, so findings remain preliminary

What the research says A genome-wide association study (GWAS) of electrocardiographic (ECG) traits in African Americans tested more than 930,000 single nucleotide polymorphisms using electronic medical records from the Vanderbilt BioVU biorepository and Northwestern University NUgene biobank (n=455 African Americans). The study identified 36 novel associations at p < 1.0 x 10^-6 across four traits: PR interval (the time for an electrical signal to travel from the upper chambers of the heart to the lower chambers), QRS duration (the time for the lower chambers to contract), QT interval (the time for the lower chambers to electrically recharge), and heart rate. The specific association statistics for rs10784762 within this locus are not present in the available study text excerpt, limiting conclusions about effect size or direction for this particular variant.

Reported associations

• Electrocardiographic traits (general): rs10784762 was examined among more than 930,000 variants in a GWAS of PR interval, QRS duration, QT interval, and heart rate in 455 African Americans; the study reported 36 novel associations at p < 1.0 x 10^-6, but specific data for this locus are not available in the provided text excerpt
• Population generalizability: Five ECG associations previously identified in European and/or Asian populations were confirmed to generalize - in both statistical significance and direction of effect - to African Americans; 43 associations showed a consistent direction of effect across populations

Evidence quality The study applied a discovery threshold of p < 1.0 x 10^-6 across 455 African American participants recruited through two electronic medical record-linked biobanks. Eligibility required a normal ECG, no evidence of cardiac disease at or within one month of the ECG, no concurrent use of medications affecting QRS duration, and normal electrolyte values at the time of the ECG. A sample size of 455 is modest by current GWAS standards, which typically require tens of thousands of participants to reliably detect common small-effect variants. The study explicitly noted meaningful population-level differences between African and European populations in allele frequencies and linkage disequilibrium (the tendency for nearby genetic variants to be co-inherited), factors that affect both the generalizability of associations and the ability to fine-map causal variants. No effect size, p-value, or replication data specific to rs10784762 is available in the provided study excerpt, so the strength of evidence for this particular variant cannot be independently assessed.

Lifestyle considerations No lifestyle considerations on file for this variant.