Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways

Actinic keratosis (AK) is a common precancerous cutaneous neoplasm that arises on chronically sun-exposed skin. AK susceptibility has a moderate genetic component, and although a few susceptibility loci have been identified, including IRF4, TYR , and MC1R , additional loci have yet to be discovered....

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Bibliographic Details
Published in:Communications biology 2022-04, Vol.5 (1), p.386-9, Article 386
Main Authors: Kim, Yuhree, Yin, Jie, Huang, Hailiang, Jorgenson, Eric, Choquet, Hélène, Asgari, Maryam M.
Format: Article
Language:English
Subjects:
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Adult
Aging
Biology
Biomedical and Life Sciences
Cell signaling
DQA1 protein
Epidemiology
Extracellular matrix
Forkhead Transcription Factors - genetics
Foxp1 protein
Genetic Predisposition to Disease
Genome-wide association studies
Genome-Wide Association Study
Genomes
Heterogeneous-Nuclear Ribonucleoprotein Group C - genetics
Histocompatibility antigen HLA
Homeostasis
Humans
Immunoregulation
Interferon regulatory factor 4
Keratosis
Keratosis, Actinic - genetics
Life Sciences
Neoplasia
Pigmentation
Polymorphism, Single Nucleotide
Repressor Proteins - genetics
Skin Neoplasms - genetics
Susceptibility
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Summary:Actinic keratosis (AK) is a common precancerous cutaneous neoplasm that arises on chronically sun-exposed skin. AK susceptibility has a moderate genetic component, and although a few susceptibility loci have been identified, including IRF4, TYR , and MC1R , additional loci have yet to be discovered. We conducted a genome-wide association study of AK in non-Hispanic white participants of the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort ( n  = 63,110, discovery cohort), with validation in the Mass-General Brigham (MGB) Biobank cohort ( n  = 29,130). We identified eleven loci ( P  
ISSN:2399-3642
2399-3642
DOI:10.1038/s42003-022-03301-3