ArticleBMC medical genetics2008
N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study.
Article in BMC medical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 34 citations in OpenAlex.
- Insights into the molecular underpinning of type 2 diabetes complications.Human molecular genetics · 2025Review
- Genetic imputation of kidney transcriptome, proteome and multi-omics illuminates new blood pressure and hypertension targets.Nature communications · 2024Article
- Metabolic implications of amino acid metabolites in chronic kidney disease progression: a metabolomics analysis using OPLS-DA and MBRole2.0 database.International urology and nephrology · 2024Article
- Cysteine as a Multifaceted Player in Kidney, theMolecules (Basel, Switzerland) · 2022Review
- Endoplasmic reticulum acetyltransferases Atase1 and Atase2 differentially regulate reticulophagy, macroautophagy and cellular acetyl-CoA metabolism.Communications biology · 2021Article
- Novel susceptibility loci identified in a genome-wide association study of type 2 diabetes complications in population of Latvia.BMC medical genomics · 2021Article
- Promising Epigenetic Biomarkers Associated With Cancer-Associated-Fibroblasts for Progression of Kidney Renal Clear Cell Carcinoma.Frontiers in genetics · 2021Article
- Article
- International Congress of Drug Therapy in HIV Infection 23-26 October 2016, Glasgow, UK.Journal of the International AIDS Society · 2016Article
- The role of N-acetyltransferase 8 in mesenchymal stem cell-based therapy for liver ischemia/reperfusion injury in rats.PloS one · 2014Article
- Albuminuria is associated with too few glomeruli and too much testosterone.Kidney international · 2013Article
- A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.PLoS genetics · 2011Article
- HYPEST study: profile of hypertensive patients in Estonia.BMC cardiovascular disorders · 2011Article
- Molecular identification of NAT8 as the enzyme that acetylates cysteine S-conjugates to mercapturic acids.The Journal of biological chemistry · 2010Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundKidneys have an important function in blood pressure (BP) regulation and elevated BP may lead to kidney failure. Chr2p12-p13 region linked to BP traits in multiple studies harbours a potential candidate for BP and renal function, N-acetyltransferase 8 (NAT8) expressed in embryonic and adult kidney and associated with nephrotoxicity response. METHODS/
resultsWe report the first study exploring NAT8 as a potential candidate gene for blood pressure and kidney function. The resequencing (n = 42, random Estonian samples) identified 15 NAT8 polymorphisms, including 6 novel variants. The diversity of NAT8 5' upstream region (pi/bp = 0.00320) exceeded up to 10 times the variation in the NAT8 genic region (pi/bp = 0.00037) as well as the average variation (pi/bp = 0.00040) for the promoters of 29 reference genes associated with hypertension. We suggest that a potential source for such high variation could be an active gene conversion process from NAT8B duplicate gene to NAT8. Similarly to NAT8, several reference genes with the most variable upstream regions have also duplicate copies. The NAT8 promoter SNPs were targeted with pilot quantitative association studies for blood pressure (n = 137, healthy unrelated individuals) and for the index of kidney function - estimated glomerular filtration rate (eGFR; n = 157 hypertensives with and without nephropathy). Minor alleles of these polymorphisms revealed a significant protective effect against elevated systolic BP as well as kidney failure in hypertension patients (p < 0.05; linear regression model, addictive effect).
conclusionThe full resequencing and pilot association study of a novel positional candidate gene for blood pressure and renal function, human N-acetyltransferase 8, suggested a contribution of highly variable NAT8 promoter polymorphisms in determination of systolic blood pressure and eGFR. Based on in silico analysis, we raise the hypothesis that the alternative SNP alleles of the NAT8 upstream region may have differential effect on gene expression.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.