{"doi":"10.1093/jnci/djr219","title":"Comprehensive Field Synopsis and Systematic Meta-analyses of Genetic Association Studies in Cutaneous Melanoma","abstract":"<h4>Background</h4>Although genetic studies have reported a number of loci associated with cutaneous melanoma (CM) risk, a comprehensive synopsis of genetic association studies published in the field and systematic meta-analysis for all eligible polymorphisms have not been reported.<h4>Methods</h4>We systematically annotated data from all genetic association studies published in the CM field (n = 145), including data from genome-wide association studies (GWAS), and performed random-effects meta-analyses across all eligible polymorphisms on the basis of four or more independent case-control datasets in the main analyses. Supplementary analyses of three available datasets derived from GWAS and GWAS-replication studies were also done. Nominally statistically significant associations between polymorphisms and CM were graded for the strength of epidemiological evidence on the basis of the Human Genome Epidemiology Network Venice criteria. All statistical tests were two-sided.<h4>Results</h4>Forty-two polymorphisms across 18 independent loci evaluated in four or more datasets including candidate gene studies and available GWAS data were subjected to meta-analysis. Eight loci were identified in the main meta-analyses as being associated with a risk of CM (P < .05) of which four loci showed a genome-wide statistically significant association (P < 1 × 10(-7)), including 16q24.3 (MC1R), 20q11.22 (MYH7B/PIGU/ASIP), 11q14.3 (TYR), and 5p13.2 (SLC45A2). Grading of the cumulative evidence by the Venice criteria suggested strong epidemiological credibility for all four loci with genome-wide statistical significance and one additional gene at 9p23 (TYRP1). In the supplementary meta-analyses, a locus at 9p21.3 (CDKN2A/MTAP) reached genome-wide statistical significance with CM and had strong epidemiological credibility.<h4>Conclusions</h4>To the best of our knowledge, this is the first comprehensive field synopsis and systematic meta-analysis to identify genes associated with an increased susceptibility to CM.","journal":"JNCI Journal of the National Cancer Institute","year":2011,"id":1544,"datarank":4.127540090810017,"base_score":4.700480365792417,"endowment":4.700480365792417,"self_citation_contribution":0.7050720548688626,"citation_network_contribution":3.4224680359411543,"self_endowment_contribution":0.7050720548688626,"citer_contribution":3.4224680359411543,"corpus_percentile":69.89422294548413,"corpus_rank":371,"citation_count":110,"citer_count":90,"citers_with_citation_signal":76,"citers_with_endowment":76,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.9067,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2011-06-21","fair_score":31.3333,"fair_percentile":13.390501319261213,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":70572,"name":"Katerina P. Kypreou","orcid":null,"position":2,"is_corresponding":false},{"id":18023,"name":"V. Nicolaou","orcid":null,"position":4,"is_corresponding":false},{"id":18028,"name":"A. Katsambas","orcid":null,"position":9,"is_corresponding":false},{"id":18029,"name":"H. Tsao","orcid":null,"position":10,"is_corresponding":false},{"id":18031,"name":"A. J. Stratigos","orcid":null,"position":13,"is_corresponding":false},{"id":18032,"name":"Foteini Chatzinasiou","orcid":null,"position":14,"is_corresponding":false},{"id":7730,"name":"Christina M. Lill","orcid":"0000-0002-1903-6762","position":15,"is_corresponding":false},{"id":18033,"name":"Katerina Kypreou","orcid":null,"position":16,"is_corresponding":false},{"id":18034,"name":"Irene Stefanaki","orcid":"0000-0002-2964-370X","position":17,"is_corresponding":false},{"id":18035,"name":"George M. Spyrou","orcid":"0000-0002-2470-3363","position":18,"is_corresponding":false},{"id":2427,"name":"Evangelos Evangelou","orcid":"0000-0002-5488-2999","position":19,"is_corresponding":false},{"id":18036,"name":"Johannes T. Roehr","orcid":"0000-0001-6092-3622","position":20,"is_corresponding":false},{"id":18037,"name":"Elisavet Kodela","orcid":"0000-0002-4285-0842","position":21,"is_corresponding":false},{"id":18038,"name":"Hensin Tsao","orcid":"0000-0002-2204-2071","position":22,"is_corresponding":false},{"id":148,"name":"John P. A. Ioannidis","orcid":"0000-0003-3118-6859","position":23,"is_corresponding":false},{"id":526,"name":"Muin J. Khoury","orcid":"0000-0002-9887-443X","position":24,"is_corresponding":false}],"reference_count":63,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-03-01T18:20:47.508186Z","pmid":"21693730","pmcid":"PMC4719704","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":64.0,"fair_a":48.0,"fair_i":0.0,"fair_r":13.3333,"fair_zscore":-1.2553,"fair_rationale":{"fair_score":31.33,"has_llm":true,"dimensions":{"F":{"name":"Findable","score":64.0,"criteria":[{"key":"f_has_doi","label":"Has a persistent DOI","kind":"deterministic","weight":1.0,"fraction":1.0,"signal":"DOI present","rationale":null},{"key":"f_repository_presence","label":"Indexed in repositories / literature DBs","kind":"deterministic","weight":1.0,"fraction":1.0,"signal":"datacite=0, pmcid=True, pmid=True","rationale":null},{"key":"f_persistent_ids","label":"Resolvable scholarly identifiers (OpenAlex)","kind":"deterministic","weight":0.5,"fraction":0.0,"signal":"no OpenAlex id","rationale":null},{"key":"f_metadata_richness","label":"Rich, machine-readable metadata","kind":"llm","weight":1.0,"fraction":0.0,"signal":null,"rationale":"The paper does not mention any machine-readable metadata or standards for describing the data."}]},"A":{"name":"Accessible","score":48.0,"criteria":[{"key":"a_open_access","label":"Open Access / files deposited","kind":"deterministic","weight":1.5,"fraction":1.0,"signal":"Open Access","rationale":null},{"key":"a_retrievable","label":"Free full text retrievable","kind":"deterministic","weight":1.0,"fraction":0.0,"signal":"0 OA location(s)","rationale":null},{"key":"a_access_protocol","label":"Clear data/code access protocol","kind":"llm","weight":1.0,"fraction":0.0,"signal":null,"rationale":"No protocol for accessing the underlying data or code is provided in the text."}]},"I":{"name":"Interoperable","score":0.0,"criteria":[{"key":"i_linked_data","label":"Linked datasets / DataCite relations","kind":"deterministic","weight":1.0,"fraction":0.0,"signal":"linked_datasets=0, datacite=0","rationale":null},{"key":"i_standard_ids","label":"References data via standard accessions","kind":"deterministic","weight":1.0,"fraction":0.0,"signal":"accessions=0, trials=0","rationale":null},{"key":"i_standards","label":"Standard formats, vocabularies & identifiers","kind":"llm","weight":1.0,"fraction":0.0,"signal":null,"rationale":"The text does not specify use of standard formats, vocabularies, or identifiers for the data."}]},"R":{"name":"Reusable","score":13.33,"criteria":[{"key":"r_license","label":"Clear, open reuse license","kind":"deterministic","weight":1.5,"fraction":0.0,"signal":"no license","rationale":null},{"key":"r_downloads","label":"Demonstrated reuse (downloads)","kind":"deterministic","weight":0.5,"fraction":0.0,"signal":"downloads=0","rationale":null},{"key":"r_version","label":"Versioned / maintained","kind":"deterministic","weight":0.5,"fraction":0.0,"signal":"no version chain","rationale":null},{"key":"r_dataset","label":"Classified as a data resource","kind":"deterministic","weight":0.5,"fraction":1.0,"signal":"is_dataset","rationale":null},{"key":"r_reusability","label":"Data-availability statement, license & reproducibility","kind":"llm","weight":2.0,"fraction":0.0,"signal":null,"rationale":"There is no data-availability statement, license, or information on reproducibility beyond the methods description."}]}},"suggestions":["Deposit the annotated dataset of all genetic association studies in a public repository (e.g., GWAS Catalog, dbGaP) with a persistent identifier.","Provide a clear data-availability statement in the paper specifying where and how to access the data and code.","Use standard identifiers (e.g., rs numbers) for all polymorphisms and reference genome builds to enhance interoperability.","Release the meta-analysis code (e.g., R or Stata scripts) in a public repository with a license (e.g., MIT or CC0).","Add a supplementary file with detailed metadata describing each study included, following community standards (e.g., MIxS for genetic data)."],"model":"deepseek/deepseek-v4-flash","agent_version":"fair_agent_v2","fulltext_source":"abstract_only"},"fair_model":"deepseek/deepseek-v4-flash","fair_agent_version":"fair_agent_v2","fair_fulltext_source":"abstract_only","fair_has_llm":true,"fair_computed_at":"2026-06-18T00:39:18.641765Z","clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}