Expressive

rs112802859 - SAMHD1

Magnitude 2.2 · 2 studies 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

  • Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences - Unknown journal (n.d.) · Unknown authors · PubMed 39192095

    ABSTRACT: Telomeres protect chromosome ends from damage and their length is linked with human disease and aging. We developed a joint telomere length metric, combining quantitative PCR and whole-genome sequencing measurements from 462,666 UK Biobank participants. This metric increased SNP heritability, suggesting that it better captures genetic regulation of telomere length. Exome-wide rare-variant and gene-level collapsing association studies identified 64 variants and 30 genes significantly associated with telomere length, including allelic series in ACD and RTEL1. Notably, 16% of these genes are known drivers of clonal hematopoiesis-an age-related somatic mosaicism associated with myeloid cancers and several nonmalignant diseases. Somatic variant analyses revealed gene-specific associ

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