Expressive

rs10857352 - NAF1 - NPY1R

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed - Unknown journal (n.d.) · Unknown authors · PubMed 35530816

    ABSTRACT: Summary Genetic studies on telomere length are important for understanding age-related diseases. Prior GWASs for leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study for TL across ancestrally diverse individuals (European, African, Asian, and Hispanic/Latino) from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program. We used whole-genome sequencing (WGS) of whole blood for variant genotype calling and the bioinformatic estimation of telomere length in n = 109,122 individuals. We identified 59 sentinel variants (p < 5 × 10−9) in 36 loci associated with telomere length, including 20 newly associated loci (13 were replicated in external datasets). There was little evidence of effect size heterog

  • Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies - Unknown journal (n.d.) · Unknown authors · PubMed 31171785

    ABSTRACT: Genetic factors underlying leukocyte telomere length (LTL) may provide insights into telomere homeostasis, with direct links to disease susceptibility. Genetic evaluation of 23,096 Singaporean Chinese samples identifies 10 genome-wide loci (P < 5 × 10−8). Several of these contain candidate genes (TINF2, PARP1, TERF1, ATM and POT1) with potential roles in telomere biology and DNA repair mechanisms. Meta-analyses with additional 37,505 European individuals reveals six more genome-wide loci, including associations at MPHOSPH6, NKX2-3 and TYMS. We demonstrate that longer LTL associates with protection against respiratory disease mortality [HR = 0.854(0.804-0.906), P = 1.88 × 10−7] in the Singaporean Chinese samples. We further show that the LTL reducing SN

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