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Published on: December 19, 2019
Mendelian Randomization Studies on Actinic Keratosis.
Ida M Heerfordt1,2, Frederik Viggo Lautrup Esmann2, Henrik Horwitz3,4
1Department of Clinical Pharmacology, Copenhagen University Hospital - Bispebjerg and Frederiksberg, Copenhagen, Denmark; ida.marie.heerfordt@regionh.dk.
Mendelian randomization (MR) studies on actinic keratosis (AK) are limited but diverse. This review highlights how MR can investigate AK risk factors and its role in skin cancer prevention, guiding future research.
Area of Science:
- Genetics
- Dermatology
- Epidemiology
Background:
- Actinic keratosis (AK) is a common sun-induced skin condition and a precursor to squamous cell carcinoma.
- Epidemiological studies on AK risk factors are often limited by confounding.
- Mendelian randomization (MR) offers a method to infer causality using genetic variants.
Purpose of the Study:
- To review published Mendelian randomization (MR) studies on actinic keratosis (AK).
- To examine AK as both an exposure and an outcome in MR analyses.
- To identify current applications and future directions for MR in AK research.
Main Methods:
- Systematic literature search of MEDLINE and Embase databases.
- Inclusion of original human research employing MR for AK-related associations.
- Focus on two-sample MR using summary-level genome-wide association data.
Main Results:
- Eight MR studies were included, primarily using European population data.
- Studies investigated various exposures (metabolic, immune, dermatological, sun sensitivity) related to AK.
- One study explored AK as an exposure for skin cancer risk; no meta-analysis was possible due to study heterogeneity.
Conclusions:
- The body of MR research on AK is currently small but methodologically varied.
- This review summarizes the application of MR in AK research.
- Findings can inform future MR investigations into AK etiology and prevention.
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