{"doi":"10.1101/2024.05.29.24307986","title":"Are rare heterozygous <i>SYNJ1</i> variants associated with Parkinson’s disease?","abstract":"Abstract Previous studies have suggested that rare biallelic SYNJ1 mutations may cause autosomal recessive parkinsonism and Parkinson’s disease (PD). Our study explored the impact of rare SYNJ1 variants in non-familial settings, including 8,165 PD cases, 818 early-onset PD (EOPD, &lt;50 years) and 70,363 controls. Burden meta-analysis using optimized sequence Kernel association test (SKAT-O) revealed an association between rare nonsynonymous variants in the Sac1 SYNJ1 domain and PD (P fdr =0.040). Additionally, a meta-analysis focusing on patients with EOPD demonstrated an association between all rare SYNJ1 variants and PD (P fdr =0.029). Rare SYNJ1 variants may be associated with sporadic PD, and more specifically with EOPD.","journal":"medRxiv","year":2024,"id":498121,"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":0.9543,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1018751,"name":"Sitki Cem Parlar","orcid":"0009-0003-9026-114X","position":1,"is_corresponding":false},{"id":1291040,"name":"Cloe Chantereault","orcid":null,"position":2,"is_corresponding":false},{"id":347907,"name":"Eric Yu","orcid":"0000-0003-3525-4564","position":3,"is_corresponding":false},{"id":1290473,"name":"Jamil Ahmad","orcid":"0000-0003-4594-2723","position":4,"is_corresponding":false},{"id":301063,"name":"Jennifer A. Ruskey","orcid":"0000-0002-6392-5014","position":5,"is_corresponding":false},{"id":303111,"name":"Farnaz Asayesh","orcid":null,"position":6,"is_corresponding":false},{"id":53270,"name":"Dan Spiegelman","orcid":"0000-0003-4971-8868","position":7,"is_corresponding":false},{"id":347909,"name":"Cheryl Waters","orcid":"0000-0002-1908-8773","position":8,"is_corresponding":false},{"id":397890,"name":"Oury Monchi","orcid":"0000-0003-2148-5409","position":9,"is_corresponding":false},{"id":301066,"name":"Yves Dauvilliers","orcid":"0000-0003-0683-6506","position":10,"is_corresponding":false},{"id":343838,"name":"Nicolas Dupré","orcid":"0000-0001-7270-6115","position":11,"is_corresponding":false},{"id":1079959,"name":"Irina Miliukhina","orcid":"0000-0002-6433-542X","position":12,"is_corresponding":false},{"id":1079960,"name":"Alla Timofeeva","orcid":"0000-0003-1661-7753","position":13,"is_corresponding":false},{"id":1079961,"name":"Anton Emelyanov","orcid":"0000-0002-3249-7889","position":14,"is_corresponding":false},{"id":1080423,"name":"Sofya Pchelina","orcid":null,"position":15,"is_corresponding":false},{"id":347908,"name":"Lior Greenbaum","orcid":"0000-0001-6176-0941","position":16,"is_corresponding":false},{"id":347910,"name":"Sharon Hassin‐Baer","orcid":"0000-0001-7657-0171","position":17,"is_corresponding":false},{"id":279481,"name":"Roy N. Alcalay","orcid":"0000-0002-5717-4875","position":18,"is_corresponding":false},{"id":263848,"name":"Ziv Gan‐Or","orcid":"0000-0003-0332-234X","position":19,"is_corresponding":false},{"id":297178,"name":"Konstantin Senkevich","orcid":"0000-0003-3407-5716","position":0,"is_corresponding":true}],"reference_count":33,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T02:09:38.543544Z","pmid":"38853950","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":[]}