rs114514212 - PDE4D

Magnitude 4.5 · 1 study on file

Reported associations

  • Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment - Unknown journal (n.d.) · Unknown authors · PubMed 32080354

    ABSTRACT: Angioedema in the mouth or upper airways is a feared adverse reaction to angiotensin-converting enzyme inhibitor (ACEi) and angiotensin receptor blocker (ARB) treatment, which is used for hypertension, heart failure and diabetes complications. This candidate gene and genome-wide association study aimed to identify genetic variants predisposing to angioedema induced by these drugs. The discovery cohort consisted of 173 cases and 4890 controls recruited in Sweden. In the candidate gene analysis, ETV6, BDKRB2, MME, and PRKCQ were nominally associated with angioedema (p < 0.05), but did not pass Bonferroni correction for multiple testing (p < 2.89 × 10−5). In the genome-wide analysis, intronic variants in the calcium-activated potassium channel subunit alpha-1 (KCNMA1)


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • ACE inhibitor and ARB use with rs114514212 risk allele Moderate

    PDE4D rs114514212 A allele increases angioedema risk 2.6-fold when using ACE inhibitors or angiotensin receptor blockers

    If prescribed ACE-I or ARB, discuss alternative antihypertensive options with your prescriber

Screening

  • Angioedema symptoms during ACE inhibitor or ARB use Moderate

    PDE4D variant carriers show substantially elevated angioedema risk with these antihypertensive drug classes

    If taking ACE-I or ARB, watch for facial/throat/tongue swelling and seek immediate care if it develops