{"doi":"10.1038/s42003-022-03301-3","title":"Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways","abstract":"Abstract 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 < 5 × 10 −8 ), including seven novel loci, of which four novel loci were validated. In a meta-analysis (GERA + MGB), one additional novel locus, TRPS1 , was identified. Genes within the identified loci are implicated in pigmentation ( SLC45A2, IRF4, BNC2 , TYR, DEF8, RALY, HERC2 , and TRPS1 ), immune regulation ( FOXP1 and HLA-DQA1 ), and cell signaling and tissue remodeling ( MMP24 ) pathways. Our findings provide novel insight into the genetics and pathogenesis of AK susceptibility.","journal":"Communications Biology","year":2022,"id":255262,"datarank":0.4566783656585135,"base_score":3.044522437723423,"endowment":3.044522437723423,"self_citation_contribution":0.4566783656585135,"citation_network_contribution":0.0,"self_endowment_contribution":0.4566783656585135,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":20,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9534,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":14718,"name":"Jie Yin","orcid":"0000-0002-4990-0777","position":1,"is_corresponding":false},{"id":51739,"name":"Hailiang Huang","orcid":"0000-0003-1461-5762","position":2,"is_corresponding":false},{"id":5238,"name":"Eric Jorgenson","orcid":"0000-0002-5829-8191","position":3,"is_corresponding":false},{"id":14651,"name":"Hélène Choquet","orcid":"0000-0001-9839-8667","position":4,"is_corresponding":false},{"id":385500,"name":"Maryam M. Asgari","orcid":"0000-0003-1582-3475","position":5,"is_corresponding":false},{"id":385495,"name":"Yuhree Kim","orcid":"0000-0001-8266-6241","position":0,"is_corresponding":true}],"reference_count":67,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T00:25:12.987829Z","pmid":"35449187","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}