{"doi":"10.1101/2020.09.19.20198044","title":"Association of genetic variants in enamel-formation genes with dental caries: A meta- and gene-cluster analysis","abstract":"Abstract Previous studies have reported the association between multiple genetic variants in enamel formation-related genes and the risk of dental caries with inconsistent results. We performed a systematic literature search of the PubMed, Cochrane Library, HuGE and Google Scholar databases for studies published before March 21, 2020 and conducted meta-, gene-based and gene-cluster analysis on the association between genetic variants in enamel-formation-related genes and the risk of dental caries. Our systematic literature search identified 21 relevant publications including a total of 24 studies for analysis. The genetic variant rs17878486 in AMELX was significantly associated with dental caries risk (OR=1.40, 95% CI: 1.02-1.93, P =0.037). We found no significant association between the risk of dental caries with rs12640848 in ENAM (OR=1.15, 95% CI: 0.88-1.52, P =0.310), rs1784418 in MMP20 (OR=1.07, 95% CI: 0.76-1.49, P =0.702) and rs3796704 in ENAM (OR=1.06, 95% CI: 0.96-1.17, P =0.228). Gene-based analysis indicated that multiple genetic variants in AMELX showed joint association with the risk of dental caries (6 variants; P <10 −5 ), so did genetic variants in MMP13 (3 variants; P =0.004), MMP2 (3 variants; P <10 −5 ), MMP20 (2 variants; P <10 −5 ) and MMP3 (2 variants; P <10 −5 ). The gene-cluster analysis indicated a significant association between the genetic variants in this enamel-formation gene cluster and the risk of dental caries ( P <10 −5 ). The present meta-analysis revealed that genetic variant rs17878486 in AMELX were associated with dental caries, and multiple genetic variants in enamel-formation-related genes jointly contribute to the risk of dental caries, supporting the role of genetic variants in the enamel-formation genes in the etiology of dental caries.","journal":"medRxiv","year":2020,"id":131028,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.8905,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":309255,"name":"Di Liu","orcid":"0000-0003-3693-2726","position":1,"is_corresponding":false},{"id":584334,"name":"Yang Sun","orcid":"0000-0003-1479-5222","position":2,"is_corresponding":false},{"id":309256,"name":"Jingyun Yang","orcid":"0000-0002-3495-3710","position":3,"is_corresponding":false},{"id":584335,"name":"Youcheng Yu","orcid":"0000-0001-9716-245X","position":4,"is_corresponding":false},{"id":522408,"name":"Xueyan Li","orcid":"0000-0001-6415-1172","position":0,"is_corresponding":true}],"reference_count":46,"raw_metadata":null,"created_at":"2026-07-18T23:16:00.235845Z","pmid":null,"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":[]}