Journal article

Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.

Xuling Chang, Resham L Gurung, Ling Wang, Aizhen Jin, Zheng Li, Renwei Wang, Kenneth B Beckman, Jennifer Adams-Haduch, Wee Yang Meah, Kar Seng Sim, Weng Khong Lim, Sonia Davila, Patrick Tan, Jing Xian Teo, Khung Keong Yeo, Yiamunaa M, Sylvia Liu, Su Chi Lim, Jianjun Liu, Rob M van Dam Show all

Communications Biology | Published : 2021


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 SN..

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University of Melbourne Researchers


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