{"doi":"10.1038/s42003-021-02056-7","title":"Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population","abstract":"Abstract The role of low frequency variants associated with telomere length homeostasis in chronic diseases and mortalities is relatively understudied in the East-Asian population. Here we evaluated low frequency variants, including 1,915,154 Asian specific variants, for leukocyte telomere length (LTL) associations among 25,533 Singapore Chinese samples. Three East Asian specific variants in/near POT1 , TERF1 and STN1 genes are associated with LTL (Meta-analysis P 2.49×10 −14 –6.94×10 −10 ). Rs79314063, a missense variant (p.Asp410His) at POT1 , shows effect 5.3 fold higher and independent of a previous common index SNP. TERF1 (rs79617270) and STN1 (rs139620151) are linked to LTL-associated common index SNPs at these loci. Rs79617270 is associated with cancer mortality [HR 95%CI = 1.544 (1.173, 2.032), P Adj = 0.018] and 4.76% of the association between the rs79617270 and colon cancer is mediated through LTL. Overall, genetically determined LTL is particularly associated with lung adenocarcinoma [HR 95%CI = 1.123 (1.051, 1.201), P adj = 0.007]. Ethnicity-specific low frequency variants may affect LTL homeostasis and associate with certain cancers.","journal":"Communications Biology","year":2021,"id":173405,"datarank":0.651660950461385,"base_score":3.2188758248682006,"endowment":3.2188758248682006,"self_citation_contribution":0.48283137373023016,"citation_network_contribution":0.1688295767311548,"self_endowment_contribution":0.48283137373023016,"citer_contribution":0.1688295767311548,"corpus_percentile":null,"corpus_rank":null,"citation_count":24,"citer_count":7,"citers_with_citation_signal":6,"citers_with_endowment":6,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9451,"is_data_producer":true,"deposit_databanks":{"figshare":["10.6084/m9.figshare.12951689"]},"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":711133,"name":"Resham L Gurung","orcid":"0000-0002-8772-4452","position":1,"is_corresponding":false},{"id":711134,"name":"Ling Wang","orcid":"0000-0003-1420-0129","position":2,"is_corresponding":false},{"id":430914,"name":"Aizhen Jin","orcid":"0000-0001-6375-8546","position":3,"is_corresponding":false},{"id":612831,"name":"Zheng Li","orcid":"0000-0002-7060-2213","position":4,"is_corresponding":false},{"id":388290,"name":"Renwei Wang","orcid":"0000-0001-8871-7054","position":5,"is_corresponding":false},{"id":478877,"name":"Kenneth B. Beckman","orcid":"0000-0001-8876-0706","position":6,"is_corresponding":false},{"id":418045,"name":"Jennifer Adams‐Haduch","orcid":"0000-0002-0640-3076","position":7,"is_corresponding":false},{"id":712119,"name":"Wee Yang Meah","orcid":null,"position":8,"is_corresponding":false},{"id":711135,"name":"Kar Seng Sim","orcid":"0000-0002-3822-7759","position":9,"is_corresponding":false},{"id":12408,"name":"Weng Khong Lim","orcid":"0000-0003-4391-1130","position":10,"is_corresponding":false},{"id":711136,"name":"Sonia Dávila","orcid":"0000-0001-7466-959X","position":11,"is_corresponding":false},{"id":14109,"name":"Patrick Tan","orcid":"0000-0002-0179-8048","position":12,"is_corresponding":false},{"id":711137,"name":"Jing Xian Teo","orcid":"0000-0002-5083-1852","position":13,"is_corresponding":false},{"id":711138,"name":"Khung Keong Yeo","orcid":"0000-0002-5457-4881","position":14,"is_corresponding":false},{"id":712120,"name":"M Yiamunaa","orcid":null,"position":15,"is_corresponding":false},{"id":712121,"name":"Sylvia Liu","orcid":null,"position":16,"is_corresponding":false},{"id":711139,"name":"Su Chi Lim","orcid":"0000-0003-1742-5817","position":17,"is_corresponding":false},{"id":20712,"name":"Jianjun Liu","orcid":"0000-0002-3255-3019","position":18,"is_corresponding":false},{"id":260010,"name":"Rob M. van Dam","orcid":"0000-0002-7354-8734","position":19,"is_corresponding":false},{"id":481665,"name":"Yechiel Friedlander","orcid":"0000-0001-6783-3531","position":20,"is_corresponding":false},{"id":260003,"name":"Woon‐Puay Koh","orcid":"0000-0002-5674-6341","position":21,"is_corresponding":false},{"id":341681,"name":"Jian‐Min Yuan","orcid":"0000-0002-4620-3108","position":22,"is_corresponding":false},{"id":90169,"name":"Chiea Chuen Khor","orcid":"0000-0002-1128-4729","position":23,"is_corresponding":false},{"id":236703,"name":"Chew‐Kiat Heng","orcid":"0000-0002-7309-9473","position":24,"is_corresponding":false},{"id":390744,"name":"Rajkumar Dorajoo","orcid":"0000-0001-6608-2051","position":25,"is_corresponding":false},{"id":236702,"name":"Xuling Chang","orcid":"0000-0001-7471-4768","position":0,"is_corresponding":true}],"reference_count":77,"raw_metadata":null,"created_at":"2026-07-18T23:46:49.903770Z","pmid":"33941849","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":[]}