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Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.
- Source :
-
Communications biology [Commun Biol] 2021 May 03; Vol. 4 (1), pp. 519. Date of Electronic Publication: 2021 May 03. - Publication Year :
- 2021
-
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 <superscript>-14</superscript> -6.94×10 <superscript>-10</superscript> ). 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 <subscript>95%CI</subscript> = 1.544 (1.173, 2.032), P <subscript>Adj</subscript> = 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 <subscript>95%CI</subscript> = 1.123 (1.051, 1.201), P <subscript>adj</subscript> = 0.007]. Ethnicity-specific low frequency variants may affect LTL homeostasis and associate with certain cancers.
- Subjects :
- Adult
Aged
Aged, 80 and over
Asian People genetics
Chronic Disease
Cross-Sectional Studies
Female
Humans
Leukocytes metabolism
Male
Middle Aged
Neoplasms genetics
Neoplasms pathology
Prospective Studies
Shelterin Complex
Singapore epidemiology
Young Adult
Leukocytes pathology
Neoplasms epidemiology
Polymorphism, Single Nucleotide
Telomere Homeostasis
Telomere-Binding Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 2399-3642
- Volume :
- 4
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Communications biology
- Publication Type :
- Academic Journal
- Accession number :
- 33941849
- Full Text :
- https://doi.org/10.1038/s42003-021-02056-7