Atrial fibrillation

Atrial fibrillation is an irregular, often rapid heart rhythm that raises stroke risk. This score sums common variants affecting susceptibility.

What this atrial fibrillation score reads

This is PGS012580, a 25-variant score used by Zheng and colleagues in a 2024 Journal of Internal Medicine study, drawn from GWAS data on 132,118 people, about 90% of European ancestry.

Its single largest weight sits at 4q25, next to the PITX2 gene, which is the strongest common genetic signal known for atrial fibrillation. This site also covers that locus as a standalone result, so you can read your own genotype there and see this score's largest ingredient in isolation.

How well it predicts atrial fibrillation

In UK Biobank data covering 425,676 people, being in the top third of this score carried a hazard ratio of 1.83 for atrial fibrillation compared with the bottom third, after adjustment for a long list of cardiovascular risk factors including age, sex, BMI, blood pressure, diabetes, smoking and alcohol.

Nearly doubled risk between the top and bottom third is one of the stronger signals among the scores on this site. It is still a comparison between groups: most people in the top third never develop atrial fibrillation.

How to read a high or low score

Age dominates atrial fibrillation risk in a way no genetic score approaches. It is uncommon before 50 and common past 75, so a high percentile at 35 and a high percentile at 75 describe very different absolute risks.

Atrial fibrillation is also frequently silent, which is the practical point worth taking from a high score: knowing that irregular pulses, palpitations, unexplained breathlessness or fatigue are worth mentioning, rather than dismissing. Diagnosis is made on an ECG, and treatment decisions, including anticoagulation to prevent stroke, belong with a clinician.

What this score does not capture

The strongest modifiable contributors are not genetic: high blood pressure, obesity, heavy or even moderate alcohol intake, obstructive sleep apnoea, thyroid overactivity, and long-term endurance sport. Structural heart disease and valve problems raise risk further, and none of that is in a DNA file.

Ancestry and accuracy

The source GWAS was about 90% European ancestry, and the validation reported here was in a European-ancestry biobank. Atrial fibrillation genetics has been studied far less in other populations, so both the score and its percentile carry less meaning further from that group.

How much of this score your file covers

All 25 variants in the published score are present in a standard consumer DNA file, so this reconstructs the published score in full.

Common questions

Does a high atrial fibrillation score mean I will develop it? No. The top third of this score carried 1.83 times the risk of the bottom third in a large cohort, which leaves the great majority of high-scoring people unaffected. Age, blood pressure, weight and alcohol shape the absolute risk far more.

What is the 4q25 variant everyone mentions? It is the common variant near PITX2, a gene involved in how the pulmonary veins and left atrium develop, and it is the largest common-variant signal for atrial fibrillation. It carries the biggest weight in this score, and it has its own page here if you want to read your genotype directly.

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