Catalog of 178 variations in the Japanese population among eight human genes encoding G protein-coupled receptors (GPCRs).
We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in eight genes encoding G protein-coupled receptors (GPCRs) by directly sequencing the entire relevant genomic regions except for repetitive-sequence elements. This approach identified 147 SNPs and 31 insertion/deletion polymorphisms among the eight GPCR genes. On average, we identified one SNP in every 584 nucleotides. Of the 147 SNPs, 69 were identified in AGTR1, 12 in AGTR2, nine in AGTRL1, 20 in AVPR1A, nine in AVPR2, 16 in DRD1, six in ITGA2B, and six in PTGIR. Twenty-one SNPs were located in 5' flanking regions, 76 in introns, 32 in exons, and 18 in 3' flanking regions. These variants should contribute to investigations of possible correlations between genotypes and phenotypes as regards susceptibility to disease or responsiveness to drug therapy.
Saito
Susumu
S
Laboratory for Genotyping, SNP Research Center, Institute of Physical and Chemical Research , Yokohama Institute, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Japan.
Iida
Aritoshi
A
Laboratory for Genotyping, SNP Research Center, Institute of Physical and Chemical Research , Yokohama Institute, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Japan.
Sekine
Akihiro
A
Laboratory for Genotyping, SNP Research Center, Institute of Physical and Chemical Research , Yokohama Institute, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Japan.
Kawauchi
Saori
S
Laboratory for Genotyping, SNP Research Center, Institute of Physical and Chemical Research , Yokohama Institute, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Japan.
Higuchi
Shoko
S
Laboratory for Genotyping, SNP Research Center, Institute of Physical and Chemical Research , Yokohama Institute, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Japan.
Ogawa
Chie
C
Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan.
Nakamura
Yusuke
Y
Laboratory for Genotyping, SNP Research Center, Institute of Physical and Chemical Research , Yokohama Institute, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Japan. yusuke@ims.u-tokyo.ac.jp.|Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan. yusuke@ims.u-tokyo.ac.jp.
D005091:Exons; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007438:Introns; D007564:Japan; D010641:Phenotype; D040201:Platelet Membrane Glycoprotein IIb / Q000235:genetics; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D044140:Receptor, Angiotensin, Type 1 / Q000235:genetics; D044139:Receptor, Angiotensin, Type 2 / Q000235:genetics; D011954:Receptors, Dopamine / Q000235:genetics; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*; D011982:Receptors, Prostaglandin / Q000235:genetics; D017483:Receptors, Vasopressin / Q000235:genetics; D017422:Sequence Analysis, DNA; D020506:Untranslated Regions / Q000235:genetics
D040201:Platelet Membrane Glycoprotein IIb; D044140:Receptor, Angiotensin, Type 1; D044139:Receptor, Angiotensin, Type 2; D011954:Receptors, Dopamine; D043562:Receptors, G-Protein-Coupled; D011982:Receptors, Prostaglandin; D017483:Receptors, Vasopressin; D020506:Untranslated Regions