{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chang X"],"funding":["NCI NIH HHS"],"pagination":["519"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8093266"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["4(1)"],"pubmed_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<sup>-14</sup>-6.94×10<sup>-10</sup>). 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<sub>95%CI</sub> = 1.544 (1.173, 2.032), P<sub>Adj</sub> = 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<sub>95%CI</sub> = 1.123 (1.051, 1.201), P<sub>adj</sub> = 0.007]. Ethnicity-specific low frequency variants may affect LTL homeostasis and associate with certain cancers."],"journal":["Communications biology"],"pubmed_title":["Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population."],"pmcid":["PMC8093266"],"funding_grant_id":["R01 CA144034","UM1 CA182876"],"pubmed_authors":["Liu J","Dorajoo R","M Y","Adams-Haduch J","Liu S","Wang L","Koh WP","Jin A","Wang R","Davila S","Khor CC","Meah WY","Gurung RL","Yuan JM","Heng CK","Teo JX","Sim KS","Lim SC","van Dam RM","Chang X","Lim WK","Beckman KB","Li Z","Tan P","Yeo KK","Friedlander Y"],"additional_accession":[]},"is_claimable":false,"name":"Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.","description":"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<sup>-14</sup>-6.94×10<sup>-10</sup>). 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<sub>95%CI</sub> = 1.544 (1.173, 2.032), P<sub>Adj</sub> = 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<sub>95%CI</sub> = 1.123 (1.051, 1.201), P<sub>adj</sub> = 0.007]. Ethnicity-specific low frequency variants may affect LTL homeostasis and associate with certain cancers.","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 May","modification":"2026-05-08T07:04:20.781Z","creation":"2025-02-19T00:17:19.818Z"},"accession":"S-EPMC8093266","cross_references":{"pubmed":["33941849"],"doi":["10.1038/s42003-021-02056-7"]}}