N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study.

BMC Medical Genetics
Peeter JuhansonMaris Laan

Abstract

Kidneys 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. We 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 f...Continue Reading

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Citations

Apr 13, 2010·Nature Genetics·Anna KöttgenCaroline S Fox
Sep 2, 2011·BMC Cardiovascular Disorders·Elin OrgMaris Laan
Mar 1, 2013·Kidney International·David A LongAdrian S Woolf
May 26, 2012·Human Pathology·Julien EdelineNathalie Rioux-Leclercq
Apr 16, 2010·The Journal of Biological Chemistry·Maria Veiga-da-CunhaEmile Van Schaftingen
Jan 17, 2020·Critical Reviews in Toxicology·Patrick E Hanna, M W Anders
Jan 1, 2021·Clinical Journal of the American Society of Nephrology : CJASN·Shengyuan LuoMorgan E Grams

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Methods Mentioned

BETA
PCR

Software Mentioned

AliBaba
CLUSTALW
EURACHEM
Primer3
BLAST
MatInspector
PLINK

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