Key result
The PLN promoter variant g.203A>C was present in 5.8% of cardiomyopathy patients compared to 0.3% of normal subjects, and increased transcriptional activity by 24% in vitro.
Why the study?
Does the AF177763.1:g.203A>C genetic variant in the PLN promoter contribute to dilated cardiomyopathy?
Case-Control (n=677)
Does the AF177763.1:g.203A>C genetic variant in the PLN promoter contribute to dilated cardiomyopathy?
Absolute Event Rate: 5.8% vs 0.3%
The g.203A>C genetic variant in the human PLN promoter is associated with dilated cardiomyopathy and increases PLN expression, potentially accelerating functional deterioration in heart failure.
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May support PLN variants in cardiomyopathy susceptibility; hypothesis-generating and should not yet change practice.
Haghighi et al. (2008) conducted a case-control in Dilated cardiomyopathy (n=677). PLN promoter variant AF177763.1:g.203A>C vs. Wild type / normal subjects was evaluated on Presence of the AF177763.1:g.203A>C variant. The PLN promoter variant g.203A>C was present in 5.8% of cardiomyopathy patients compared to 0.3% of normal subjects, and increased transcriptional activity by 24% in vitro.
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