rs1145091 - RNU6-953P - GATM
Magnitude 2.2 · 1 study on file
Reported associations
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Rare and common genetic determinants of metabolic individuality and their effects on human health - Unknown journal (n.d.) · Unknown authors · PubMed 36357675
ABSTRACT: Garrod's concept of 'chemical individuality' has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolome using 913 metabolites assayed in 19,994 individuals and identified 2,599 variant-metabolite associations (P < 1.25 × 10−11) within 330 genomic regions, with rare variants (minor allele frequency ≤ 1%) explaining 9.4% of associations. Jointly modeling metabolites in each region, we identified 423 regional, co-regulated, variant-metabolite clusters called genetically influenced metabotypes. We assigned causal genes for 62.4% of these genetically influenced meta
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
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kidney function status Moderate
T allele increases homoarginine levels, which are genetically associated with increased chronic kidney disease risk
periodic kidney function tests per physician recommendation
Supplements
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homoarginine supplementation Moderate
T allele at rs1145091 increases plasma homoarginine; genetically elevated homoarginine is associated with increased CKD risk