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Published on: March 12, 2013
Cardiac Manifestations of KCNK17 Mutations and/or Polymorphisms: A Systematic Review
Amir Askarinejad1, Mahshid Malakootian2, Dorsa Shekouh3
1Liverpool Center for Cardiovascular Sciences at University of Liverpool Liverpool John Moores University and Liverpool Heart & Chest Hospital Liverpool UK.
The KCNK17 gene is linked to cardiovascular and cerebrovascular diseases. This review systematically evaluates KCNK17 mutations and polymorphisms, highlighting their potential role in these conditions.
Area of Science:
- Genetics
- Cardiology
- Neurology
Background:
- The KCNK17 gene encodes k2p17.1 channels (TASK-4/TALK-2), predominantly expressed in heart atria and Purkinje fibers.
- Emerging evidence suggests a link between KCNK17 variants and cardiovascular/cerebrovascular diseases.
- Fragmented data necessitates a systematic review to consolidate knowledge on KCNK17's role.
Purpose of the Study:
- To systematically evaluate existing evidence on KCNK17 mutations and polymorphisms.
- To assess the association of KCNK17 with cardiovascular diseases (primary outcome).
- To examine the association of KCNK17 with cerebrovascular diseases (secondary outcome).
Main Methods:
- Comprehensive literature search of PubMed, MEDLINE, Embase, Web of Science, and Scopus up to August 1, 2023.
- Inclusion of original studies reporting KCNK17 variants in relation to cardiovascular or cerebrovascular diseases.
- Exclusion of studies on pharmacological interventions, reviews, editorials, and non-original articles.
Main Results:
- Nine studies were included in the systematic review.
- Six studies focused on cardiovascular diseases: atrial fibrillation, cardiac dysfunction, long QT syndrome, and conduction defects.
- Three studies investigated cerebrovascular diseases: ischemic stroke and cerebral hemorrhage.
Conclusions:
- Genetic discoveries related to KCNK17 warrant further investigation.
- Potential for developing novel cardiovascular treatments targeting KCNK17.
- Clarification of KCNK17's clinical implications in cardiovascular and cerebrovascular conditions.
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