rs112333466 - SLC6A18 - TERT

Magnitude 2.2 · 1 study on file

Reported associations

• Whole exome sequencing analyses reveal novel genes in telomere length and their biomedical implications. - GeroScience (2024) · Liu WS, Wu BS, Yang L, Chen SD, Zhang YR, Deng YT, Wu XR, He XY, Yang J, Feng JF, Cheng W, Xu YM, Yu JT · PubMed 38837026

  Telomere length is a putative biomarker of aging and is associated with multiple age-related diseases. There are limited data on the landscape of rare genetic variations in telomere length. Here, we systematically characterize the rare variant associations with leukocyte telomere length (LTL) through exome-wide association study (ExWAS) among 390,231 individuals in the UK Biobank. We identified 18 robust rare-variant genes for LTL, most of which estimated effects on LTL were significant (> 0.2 standard deviation per allele). The biological functions of the rare-variant genes were associated with telomere maintenance and capping and several genes were specifically expressed in the testis. Three novel genes (ASXL1, CFAP58, and TET2) associated with LTL were identified. Phenotypic associati

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