title: Highly polymorphic human CYP4A11 gene.
abstract: The cytochrome P450 (CYP) is a monooxidase, which regulates metabolism of drugs and fatty acids in the liver and kidney. Among isoforms of the CYP4A subfamily, CYP4A11 is a major lauric acid (medium-length fatty acids) omega hydroxylase and is involved in the balance of lipids in the human liver. We performed direct DNA sequencing in 24 unrelated Korean individuals in the whole gene, including the 1-kb upstream region of CYP4A11. Seventy sequence variants were identified: six in exons, including two nonsynonymous SNPs; 60 in introns; and four in 3'UTR. In comparison with SNPs enrolled in the SNP database (dbSNP) of the National Center for Biotechnology Information (NCBI), 26 novel polymorphisms (24 in introns and two in 3'UTR) were identified in Korean subjects (n=24). The distributions of polymorphisms confirmed were significantly different from those in the dbSNP of the NCBI. Information clarified in this study would provide valuable for further studies, including genetic association studies for various diseases and drug responses.
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Rm 1407, 14th floor, B-dong, WooLim Lion's valley, 371-28, Gasan-dong, Gewmcheon-Gu, Seoul, Korea, 153-803.
authors.forename: Byeong Hoon
authors.initials: BH
authors.lastname: Cho
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Rm 1407, 14th floor, B-dong, WooLim Lion's valley, 371-28, Gasan-dong, Gewmcheon-Gu, Seoul, Korea, 153-803.
authors.forename: Byung Lae
authors.initials: BL
authors.lastname: Park
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Rm 1407, 14th floor, B-dong, WooLim Lion's valley, 371-28, Gasan-dong, Gewmcheon-Gu, Seoul, Korea, 153-803.
authors.forename: Lyoung Hyo
authors.initials: LH
authors.lastname: Kim
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Rm 1407, 14th floor, B-dong, WooLim Lion's valley, 371-28, Gasan-dong, Gewmcheon-Gu, Seoul, Korea, 153-803.
authors.forename: Hyun Sub
authors.initials: HS
authors.lastname: Chung
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Rm 1407, 14th floor, B-dong, WooLim Lion's valley, 371-28, Gasan-dong, Gewmcheon-Gu, Seoul, Korea, 153-803. hdshin@snp-genetics.com.
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Shin
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D042926:Cytochrome P-450 CYP4A; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D007723:Korea; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D004247:DNA; D003577:Cytochrome P-450 Enzyme System; C465478:CYP4A11 protein, human; D042926:Cytochrome P-450 CYP4A