Iida Aritoshi, Saito Susumu, Sekine Akihiro, Kataoka Yukie, Tabei Wataru, Nakamura Yusuke
Laboratory for Pharmacogenetics, Research Groups of Personalized Medicine, RIKEN SNP Research Center, c/o RIKEN Yokohama Institute, 1-7-22 Suenhiro-cho, Tsurumi, Yokohama, Kanagawa, 230-0045, Japan.
Laboratory for SNP Analysis, Research Groups of Personalized Medicine, RIKEN SNP Research Center, c/o Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
J Hum Genet. 2004;49(4):194-208. doi: 10.1007/s10038-004-0133-8. Epub 2004 Mar 20.
We previously published a series of detailed maps of single nucleotide polymorphisms (SNPs) in the genomic regions of 209 gene loci encoding drug metabolizing enzymes, transporters, receptors, and other potential drug targets. In addition to the maps reported earlier, we provide here high-resolution SNP maps of 23 genes encoding G-protein coupled receptors in the Japanese population. A total of 300 SNPs were identified through screening of these loci; 83 in four adenosine receptor family genes, 45 in three adrenergic receptor family genes, 22 in three EDG receptor family genes, 29 in three melanocortin receptor family genes, 22 in two somatostatin receptor family genes, 21 in five anonymous G protein-coupled receptor family genes, and 78 in the others (AVPR1B, OXTR, and TNFRSF1A). We also discovered a total of 33 genetic variations of other types. Of the 300 SNPs, 132 (44%) appeared to be novel on the basis of comparisons with the dbSNP database of the National Center for Biotechnology Information (US) or with previous publications. The maps constructed in this study will serve as an additional resource for studies of complex genetic diseases and drug-response phenotypes to be mapped by linkage-disequilibrium association analyses.
我们之前发表了一系列详细的单核苷酸多态性(SNP)图谱,这些图谱涉及209个基因位点的基因组区域,这些基因编码药物代谢酶、转运蛋白、受体及其他潜在的药物靶点。除了之前报道的图谱外,我们在此还提供了日本人群中23个编码G蛋白偶联受体的基因的高分辨率SNP图谱。通过对这些位点的筛查,共鉴定出300个SNP;其中,4个腺苷受体家族基因中有83个,3个肾上腺素能受体家族基因中有45个,3个EDG受体家族基因中有22个,3个黑皮质素受体家族基因中有29个,2个生长抑素受体家族基因中有22个,5个未知G蛋白偶联受体家族基因中有21个,其他基因(AVPR1B、OXTR和TNFRSF1A)中有78个。我们还总共发现了33个其他类型的基因变异。在这300个SNP中,与美国国家生物技术信息中心的dbSNP数据库或之前的出版物进行比较后,有132个(44%)似乎是新发现的。本研究构建的图谱将作为一种额外的资源,用于通过连锁不平衡关联分析来定位复杂遗传疾病和药物反应表型的研究。