Key result
Rare variants in the SCN5A gene were significantly more frequent in women with sudden cardiac death compared to controls (10.0% vs 1.6%; P=0.001).
Why the study?
Do mutations or rare variants in cardiac ion channel genes increase the risk of sudden cardiac death?
Case-Control (n=846)
Yes
Do mutations or rare variants in cardiac ion channel genes increase the risk of sudden cardiac death?
Absolute Event Rate: 10% vs 1.6%
p-value: p=0.001
Functionally significant rare variants in the SCN5A gene are associated with an increased risk of sudden cardiac death in women.
No takes yet. Share an insight, caveat, or question.
SCN5A variants may inform SCD mechanisms in women; hypothesis-generating and should not yet change clinical practice or screening.
Albert et al. (2007) conducted a case-control in Sudden cardiac death (n=846). Rare variants in SCN5A vs. Controls without rare variants was evaluated on Frequency of rare variants in SCN5A (p=0.001). Rare variants in the SCN5A gene were significantly more frequent in women with sudden cardiac death compared to controls (10.0% vs 1.6%; P=0.001).
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