Novel genetic variations and haplotypes of hepatocyte nuclear factor 4alpha (HNF4A) found in Japanese type II diabetic patients. Export

@article{citeulike:2192650, abstract = {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 HNF4A 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 1193T>C (M398T) in the coding exons; 1580G>A, 1852G>T, 2180C>T, 2190G>A, and 2362\_2380delAAGAATGGTGTGGGAGAGG 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 HNF4A variations and haplotypes would be useful for pharmacogenetic studies in Japanese.}, address = {Project Team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan.}, author = {Fukushima-Uesaka, H. and Saito, Y. and Maekawa, K. and Saeki, M. and Kamatani, N. and Kajio, H. and Kuzuya, N. and Yasuda, K. and Sawada, J.}, citeulike-article-id = {2192650}, citeulike-linkout-0 = {http://view.ncbi.nlm.nih.gov/pubmed/16946562}, citeulike-linkout-1 = {http://www.hubmed.org/display.cgi?uids=16946562}, issn = {1347-4367}, journal = {Drug Metab Pharmacokinet}, keywords = {diabetes, hnf4, mapping, mutant}, month = {August}, number = {4}, pages = {337--346}, posted-at = {2008-01-03 23:34:21}, priority = {2}, title = {Novel genetic variations and haplotypes of hepatocyte nuclear factor 4alpha (HNF4A) found in Japanese type II diabetic patients.}, url = {http://view.ncbi.nlm.nih.gov/pubmed/16946562}, volume = {21}, year = {2006} }

TY - JOUR ID - citeulike:2192650 L3 - citeulike-article-id:2192650 N2 - 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 HNF4A 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 1193T>C (M398T) in the coding exons; 1580G>A, 1852G>T, 2180C>T, 2190G>A, and 2362_2380delAAGAATGGTGTGGGAGAGG 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 HNF4A variations and haplotypes would be useful for pharmacogenetic studies in Japanese. IS - 4 JF - Drug Metab Pharmacokinet SN - 1347-4367 AD - Project Team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan. EP - 346 TI - Novel genetic variations and haplotypes of hepatocyte nuclear factor 4alpha (HNF4A) found in Japanese type II diabetic patients. VL - 21 SP - 337 KW - diabetes KW - hnf4 KW - mapping KW - mutant AU - Fukushima-Uesaka, H AU - Saito, Y AU - Maekawa, K AU - Saeki, M AU - Kamatani, N AU - Kajio, H AU - Kuzuya, N AU - Yasuda, K AU - Sawada, J PY - 2006/08// UR - http://view.ncbi.nlm.nih.gov/pubmed/16946562 ER -