{"doi":"10.1101/2022.05.22.22275428","title":"Genome-wide analyses of early-onset acute myocardial infarction identify 29 novel loci by whole genome sequencing","abstract":"Abstract Early-onset acute myocardial infarction (AMI) may have a higher genetic predisposition than late-onset AMI does. The present study aimed to identify and characterize germline variants that affect early-onset AMI using whole-genome sequencing (WGS). We performed a genome-wide association study based on WGS of 1,239 Koreans, including 596 early-onset AMI patients and 643 healthy individuals. Patients with AMI who underwent percutaneous coronary intervention (PCI) caused by atherothrombotic occlusive lesions were included in the study. A total of 29 novel loci were found to be associated with early-onset AMI. These loci are involved in thrombosis, fibrinolysis, inflammation, and lipid metabolism. One of the associated single nucleotide variants (SNVs), rs1614576, located upstream of PRKCB , is known to be associated with thrombus formation. Additionally, the results revealed a novel locus, rs78631167, located upstream of PLAUR which plays a critical role in regulating plasminogen activation and is related to fibrinolysis. The association between early-onset AMI and rs9357455, which is located upstream of PHACTR1 that regulates inflammation in AMI, was found. Moreover, we could identify a lipid metabolism related genetic risk locus, rs5072, in the APOA1-AS gene. This study provides new evidence supporting the genetic association between early-onset AMI and thrombosis and fibrinolysis, as well as inflammation and lipid metabolism, by analyzing the whole-genome of 596 patients with early-onset AMI who have been treated with PCI. Our findings highlight potential genetic markers for the prediction and management of AMI, as well as for understanding the etiology of AMI.","journal":"medRxiv","year":2022,"id":309050,"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":0.8719,"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":31922,"name":"Sungwon Jeon","orcid":"0000-0002-2729-9087","position":1,"is_corresponding":false},{"id":998650,"name":"Whan-Hyuk Choi","orcid":"0000-0003-1587-5320","position":2,"is_corresponding":false},{"id":31921,"name":"Kyungwhan An","orcid":"0000-0001-9595-5130","position":3,"is_corresponding":false},{"id":998649,"name":"Hansol Choi","orcid":"0000-0002-3653-1474","position":4,"is_corresponding":false},{"id":31994,"name":"Byoung-Chul Kim","orcid":null,"position":5,"is_corresponding":false},{"id":31948,"name":"Weon Kim","orcid":"0000-0003-1264-9870","position":6,"is_corresponding":false},{"id":1003802,"name":"Sang-Yeob Lee","orcid":"0000-0001-8024-1135","position":7,"is_corresponding":false},{"id":1003803,"name":"Jang‐Whan Bae","orcid":"0000-0003-1362-9804","position":8,"is_corresponding":false},{"id":1003804,"name":"Jin‐Yong Hwang","orcid":"0000-0002-6632-7239","position":9,"is_corresponding":false},{"id":31949,"name":"Min Gyu Kang","orcid":"0000-0002-9672-1798","position":10,"is_corresponding":false},{"id":999058,"name":"Yeonkyung Kim","orcid":null,"position":11,"is_corresponding":false},{"id":998654,"name":"Younghui Kang","orcid":"0000-0002-0323-0851","position":12,"is_corresponding":false},{"id":31931,"name":"Yeo Jin Kim","orcid":"0000-0001-9122-914X","position":13,"is_corresponding":false},{"id":998657,"name":"Byung Chul Kim","orcid":"0000-0002-4891-9679","position":14,"is_corresponding":false},{"id":31992,"name":"Jong Bhak","orcid":"0000-0002-4228-1299","position":15,"is_corresponding":false},{"id":31932,"name":"Eun-Seok Shin","orcid":"0000-0002-9169-6968","position":16,"is_corresponding":false},{"id":31926,"name":"Yeonsu Jeon","orcid":"0000-0003-4560-4142","position":0,"is_corresponding":true}],"reference_count":39,"raw_metadata":null,"created_at":"2026-07-19T00:33:07.132912Z","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":[]}