rs1131383 - POLR2J, LRWD1

Magnitude 2.2 · 1 study on file

Reported associations

• 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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