Expressive

rs11624911 - HEATR4 - ACOT2

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-Wide Association Study of CKD Progression. - Journal of the American Society of Nephrology : JASN (2023) · Robinson-Cohen C, Triozzi JL, Rowan B, He J, Chen HC, Zheng NS, Wei WQ, Wilson OD, Hellwege JN, Tsao PS, Gaziano JM, Bick A, Matheny ME, Chung CP, Lipworth L, Siew ED, Ikizler TA, Tao R, Hung AM · PubMed 37261792

    Rapid progression of CKD is associated with poor clinical outcomes. Most previous studies looking for genetic factors associated with low eGFR have used cross-sectional data. The authors conducted a meta-analysis of genome-wide association studies of eGFR decline among 116,870 participants with CKD, focusing on longitudinal data. They identified three loci (two of them novel) associated with longitudinal eGFR decline. In addition to the known UMOD/PDILT locus, variants within BICC1 were associated with significant differences in longitudinal eGFR slope. Variants within HEATR4 also were associated with differences in eGFR decline, but only among Black/African American individuals without diabetes. These findings help characterize molecular mechanisms of eGFR decline in CKD and may inform ne

  • Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci - Unknown journal (n.d.) · Unknown authors · PubMed 35347128

    ABSTRACT: Few studies have explored the impact of rare variants (minor allele frequency < 1%) on highly heritable plasma metabolites identified in metabolomic screens. The Finnish population provides an ideal opportunity for such explorations, given the multiple bottlenecks and expansions that have shaped its history, and the enrichment for many otherwise rare alleles that has resulted. Here, we report genetic associations for 1391 plasma metabolites in 6136 men from the late-settlement region of Finland. We identify 303 novel association signals, more than one third at variants rare or enriched in Finns. Many of these signals identify genes not previously implicated in metabolite genome-wide association studies and suggest mechanisms for diseases and disease-related traits. The Finnis

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