A Novel Single Nucleotide Polymorphism of the Human Methylenetetrahydrofolate Reductase Gene in Japanese Individuals

Hiratsuka, Masahiro; Kudo, Mutsumi; Koseki, Nanami; Ujiie, Shuta; Sugawara, Mika; Suzuki, Rina; Sasaki, Takuma; Konno, Yumiko; Mizugaki, Michinao

doi:10.2133/dmpk.20.387

Cited by 4 publications

(1 citation statement)

References 18 publications

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“…The PCR products were analyzed using the DHPLC system (WAVE; Transgenomic, Omaha, NE) (Hiratsuka et al, 2004a,b;Ebisawa et al, 2005;Hiratsuka et al, 2005;Hiratsuka et al, 2006;Sasaki et al, 2006;Hanzawa et al, 2007). Unpurified PCR samples (5 l) were separated on a heated C18 reverse-phase column (DNASep) by using 0.1 M triethylammonium acetate in water and 0.1 M triethylammonium acetate in 25% acetonitrile at a flow rate of 0.9 ml/min.…”

Section: Methodsmentioning

confidence: 99%

Genetic Polymorphisms and Haplotype Structures of the Human CYP2W1 Gene in a Japanese Population

et al. 2007

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ABSTRACT:A novel human cytochrome P450, designated CYP2W1, has recently been identified and is found to be present mainly in tumor cells, particularly in colon cancer cells. In the present study, we report the first systematic investigation of polymorphisms in the human CYP2W1 gene. Based on denaturing high performance liquid chromatography analyses of polymerase chain reaction products, we analyzed nine exons and exon-intron junctions of the gene in DNA samples from 200 Japanese subjects and identified six single nucleotide polymorphisms (SNP). Three of the novel nonsynonymous SNPs were as follows: 173A>C (Glu58Ala) in exon 1 and 5432G>A (Val432Ile) and 5584G>C (Gln482His) in exon 9. Two previously known nonsynonymous SNPs, that is, 2008G>A (Ala181Thr) in exon 4 and 5601C>T (Pro488Leu) in exon 9, were also found. On haplotype analyses, in addition to the wild-type CYP2W1*1A (frequency, 0.295) allele, other alleles, namely, CYP2W1*1B (0.318), CYP2W1*2 (0.005), CYP2W1*3 (0.005), CYP2W1*4 (0.008), CYP2W1*5 (0.003), and CYP2W1*6 (0.368), were also characterized. The most common allele, CYP2W1*6, exhibited the amino acid substitution Pro488Leu. These results were in good agreement with the expected genotype distributions that were calculated using the Hardy-Weinberg equation. The data on variant alleles and comprehensive haplotype structures would be useful for predicting the metabolic phenotypes of CYP2W1 substrates in the Japanese population.

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