PMID: 9547362May 9, 1998Paper

Human histamine N-methyltransferase pharmacogenetics: common genetic polymorphisms that alter activity

Molecular Pharmacology
C V PreussRichard M Weinshilboum

Abstract

Histamine N-methyltransferase (HNMT) catalyzes a major pathway in histamine metabolism. Levels of HNMT activity in humans are regulated by inheritance. We set out to study the molecular basis for this genetic regulation. Northern blot analysis showed that HNMT is highly expressed in the kidney, so we determined levels of enzyme activity and thermal stability in 127 human renal biopsy samples. DNA was isolated from 12 kidney samples with widely different HNMT phenotypes, and exons of the HNMT gene were amplified with the polymerase chain reaction. In these 12 samples, we observed a C314T transition that resulted in a Thr105Ile change in encoded amino acid, as well as an A939G transition within the 3'-untranslated region. All remaining renal biopsy samples then were genotyped for these two variant sequences. Frequencies of the alleles encoding Thr105 and Ile105 in the 114 samples studied were 0.90 and 0.10, respectively, whereas frequencies for the nucleotide A939 and G alleles were 0.79 and 0.21, respectively. Kidney samples with the allele encoding Ile105 had significantly lower levels of HNMT activity and thermal stability than did those with the allele that encoded Thr105. These observations were confirmed by transient expres...Continue Reading

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Citations

May 20, 1999·Annual Review of Pharmacology and Toxicology·R M WeinshilboumC L Szumlanski
Jul 18, 2000·American Journal of Medical Genetics·L YanR M Weinshilboum
Nov 28, 2001·Pharmacogenomics·J Q HeA J Sandford
Jun 27, 2002·American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice·Peter IgazAndrás Falus
Dec 5, 2002·Pharmacogenetics·Oreste E SalavaggioneRichard M Weinshilboum
Dec 9, 2004·Pharmacogenomics·Gabor Oroszi, David Goldman
Feb 8, 2005·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Philipp DeindlUNKNOWN German Multicenter Atopy Study Group
Oct 13, 2005·Pharmacogenetics and Genomics·Oreste E SalavaggioneRichard M Weinshilboum
Jun 30, 2006·Cellular and Molecular Neurobiology·Richard M Weinshilboum
Sep 5, 2006·Annual Review of Genomics and Human Genetics·Richard M Weinshilboum, Liewei Wang
May 11, 2007·The American Journal of Clinical Nutrition·Laura Maintz, Natalija Novak
May 20, 2009·Pharmacogenomics·Elena García-MartínJosé A G Agúndez
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Nov 19, 2003·Journal of Neurochemistry·Bianca A ThomaeRichard M Weinshilboum
Aug 19, 2003·Pharmacotherapy·John D ClearyStanley W Chapman
Aug 19, 2003·British Journal of Pharmacology·Araba A AdjeiRichard M Weinshilboum
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Feb 13, 2008·Headache·Elena García-MartínFélix Javier Jiménez-Jiménez

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