Highly polymorphic human CYP4A11 gene

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 Inforfmation (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.