rs10084572 - AGPAT3 - RNU6-1150P
Magnitude 4.5 · 2 studies on file
Reported associations
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Meta-analysis of African ancestry genome-wide association studies identified novel locus and validates multiple loci associated with kidney function - Unknown journal (n.d.) · Unknown authors · PubMed 37644460
ABSTRACT: Despite recent efforts to increase diversity in genome-wide association studies (GWASs), most loci currently associated with kidney function are still limited to European ancestry due to the underlying sample selection bias in available GWASs. We set out to identify susceptibility loci associated with estimated glomerular filtration rate (eGFRcrea) in 80027 individuals of African-ancestry from the UK Biobank (UKBB), Million Veteran Program (MVP), and Chronic Kidney Disease genetics (CKDGen) consortia. We identified 8 lead SNPs, 7 of which were previously associated with eGFR in other populations. We identified one novel variant, rs77408001 which is an intronic variant mapped to the ELN gene. We validated three previously reported loci at GATM-SPATA5L1, SLC15A5 and AGPAT3. Fine-ma
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Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program - Unknown journal (n.d.) · Unknown authors · PubMed 31451708
ABSTRACT: Chronic kidney disease (CKD), defined by low estimated glomerular filtration rate (eGFR), contributes to global morbidity and mortality. Here we conduct a transethnic Genome-Wide Association Study of eGFR in 280,722 participants of the Million Veteran Program (MVP), with replication in 765,289 participants from the Chronic Kidney Disease Genetics (CKDGen) Consortium. We identify 82 previously unreported variants, confirm 54 loci, and report interesting findings including association of the sickle cell allele of betaglobin among non-Hispanic blacks. Our transcriptome-wide association study of kidney function in healthy kidney tissue identifies 36 previously unreported and nine known genes, and maps gene expression to renal cell types. In a Phenome-Wide Association Study in 192,86
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
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Baseline and periodic kidney function (eGFR, creatinine) Moderate
Genetic variant associated with eGFR variation warrants baseline assessment and periodic monitoring of kidney function status
Obtain serum creatinine and calculated eGFR if not recently measured; recheck every 1-2 years