| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 2479530 | Drug Metabolism and Pharmacokinetics | 2006 | 10 Pages |
Summary:Thirty-nine single nucleotide variations, including 16 novel ones, were found in the 5' promoter region, all of the exons and their surrounding introns of HNP4A in 74 Japanese type II diabetic patients. The following novel variations were identified (based on the amino acid numbering of splicing variant 2): − 208G > C in the 5' promoter region; 1154C > T (A385V) and 1193 T > C (M398T) in the coding exons; 1580G > A, 1852G > T, 2180C > T, 2190G > A, and 2362_2380delAAGAATGGTGTGGG- AGAGG in the 3'-untranslated region, and IVS1 + 231G > A, IVS2-83C > T, IVS3 + 50C > T, IVS3- 54delC, IVS5 + 173_176delTTAG, IVS5 - 181_ - 180delAT, IVS8-106A > G, and IVS9-151A > C in the introns. The allele frequencies were 0.311 for 2362_2380delAAGAATGGTGTGGGAGAGG, 0.054 for 1580G > A, 0.047 for 1852G > T, 0.020 for IVS1 + 231G > A, 0.014 for IVS9 - 151A > C, and 0.007 for the other 11 variations. In addition, one known nonsynonymous single nucleotide polymorphism, 416C > T (T139I), was detected at a 0.007 frequency. Based on the linkage disequilibrium profiles, the region analyzed was divided into three blocks. Haplotype analysis determined/inferred 10, 16, and 12 haplotypes for block 1, 2, and 3, respectively. Our results on HNP4A variations and haplotypes would be useful for pharmacogenetic studies in Japanese.
