Phospholemman Phosphorylation Regulates Vascular Tone, Blood Pressure, and Hypertension in Mice and Humans.

Of course, there is an increasing trend between the effect size of associated SNPs and their minor allele frequency, with only rare variants expected to have larger effects, and indeed, this is a low-frequency SNP with minor allele frequency=1%; however, even in recent BP genetic studies investigating rare variants, few individual SNPs have still been identified with an effect size for SBP of >2 mm Hg. 51 We note, however, that because of the rare frequency of this SNP, and considering the highly polygenic nature of BP within the general human population, we do not claim any strong clinical impact for this SNP alone.

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