Ontology type: schema:ScholarlyArticle Open Access: True
2006-09-26
AUTHORSKiyoshi Kunika, Toshihito Tanahashi, Eiji Kudo, Noriko Mizusawa, Eiichiro Ichiishi, Naoto Nakamura, Toshikazu Yoshikawa, Takashi Yamaoka, Hiroaki Yasumo, Kazue Tsugawa, Maki Moritani, Hiroshi Inoue, Mitsuo Itakura
ABSTRACTGlutamine: fructose-6-phosphate amidotransferase 1 (GFPT1) acts as a rate-limiting enzyme in the hexosamine biosynthetic pathway, which is an alternative branch of glucose metabolism. To evaluate GFPT1 as a susceptibility gene to type 2 diabetes, we surveyed the polymorphisms related with the gene function of GFPT1 and assessed its contribution to type 2 diabetes with a case-control association study. Screening of the 5′-flanking and all coding regions of GFPT1 revealed eight polymorphisms, one in the 5′-flanking region, one synonymous polymorphism in exon 8, five in introns and one in 3′-UTR, but no mis-sense or non-sense polymorphism. With in silico simulation, a putative promoter region was apparently predicted between 1 kb upstream and 1 kb downstream of the start codon. In this region, +36T > C polymorphism was located on the GC box sequence in intron 1, and its functional effect on promoter activity was confirmed by luciferase reporter assay, introducing a new functional polymorphism of the GFPT1 gene. To examine its association with type 2 diabetes, we analyzed 2,763 Japanese (1,461 controls and 1,302 cases) and 330 Caucasians (190 controls and 140 cases). One possible association of +36T > C was observed in Caucasians, but no association of polymorphisms including +36T > C in intron 1 or haplotypes was observed in Japanese. Although we could not completely rule out a contribution to specific sub-groups or other populations, genetic variation of GFPT1 is unlikely to have a major role in the susceptibility to type 2 diabetes in Japanese. More... »
PAGES1100-1109
http://scigraph.springernature.com/pub.10.1007/s10038-006-0072-7
DOIhttp://dx.doi.org/10.1007/s10038-006-0072-7
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1044513496
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/17024311
JSON-LD is the canonical representation for SciGraph data.
TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT
[
{
"@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json",
"about": [
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Biological Sciences",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Genetics",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "5' Flanking Region",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Adult",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Aged",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Aged, 80 and over",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Asian Continental Ancestry Group",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Base Sequence",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Case-Control Studies",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Diabetes Mellitus, Type 2",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "European Continental Ancestry Group",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Predisposition to Disease",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing)",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Introns",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Male",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Middle Aged",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Molecular Sequence Data",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Polymorphism, Single Nucleotide",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Promoter Regions, Genetic",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Division of Genetic Information, Institute for Genome Research, The University of Tokushima, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan",
"id": "http://www.grid.ac/institutes/grid.267335.6",
"name": [
"Division of Genetic Information, Institute for Genome Research, The University of Tokushima, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan"
],
"type": "Organization"
},
"familyName": "Kunika",
"givenName": "Kiyoshi",
"id": "sg:person.01000571335.19",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01000571335.19"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Genetic Information, Institute for Genome Research, The University of Tokushima, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan",
"id": "http://www.grid.ac/institutes/grid.267335.6",
"name": [
"Division of Genetic Information, Institute for Genome Research, The University of Tokushima, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan"
],
"type": "Organization"
},
"familyName": "Tanahashi",
"givenName": "Toshihito",
"id": "sg:person.01116153403.95",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116153403.95"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Pathology, The University of Tokushima Graduate School, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan",
"id": "http://www.grid.ac/institutes/grid.267335.6",
"name": [
"Department of Human Pathology, The University of Tokushima Graduate School, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan"
],
"type": "Organization"
},
"familyName": "Kudo",
"givenName": "Eiji",
"id": "sg:person.01126126415.50",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01126126415.50"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan",
"id": "http://www.grid.ac/institutes/grid.267335.6",
"name": [
"Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan"
],
"type": "Organization"
},
"familyName": "Mizusawa",
"givenName": "Noriko",
"id": "sg:person.01211520663.35",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01211520663.35"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "New Industry Creation Hatchery Center, Tohoku University, Aoba, Aramaki, Aoba-ku, 980-8579, Sendai-city, Miyagi, Japan",
"id": "http://www.grid.ac/institutes/grid.69566.3a",
"name": [
"New Industry Creation Hatchery Center, Tohoku University, Aoba, Aramaki, Aoba-ku, 980-8579, Sendai-city, Miyagi, Japan"
],
"type": "Organization"
},
"familyName": "Ichiishi",
"givenName": "Eiichiro",
"id": "sg:person.01000015753.26",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01000015753.26"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Endocrinology and Metabolism, Kyoto Prefectural University of Medicine, Graduate School of Medical Sciences, 465, Kajii-cho, Hirokoji-Kawaramachi, Kamigyo-ku, 602-8566, Kyoto-city, Kyoto, Japan",
"id": "http://www.grid.ac/institutes/grid.272458.e",
"name": [
"Department of Endocrinology and Metabolism, Kyoto Prefectural University of Medicine, Graduate School of Medical Sciences, 465, Kajii-cho, Hirokoji-Kawaramachi, Kamigyo-ku, 602-8566, Kyoto-city, Kyoto, Japan"
],
"type": "Organization"
},
"familyName": "Nakamura",
"givenName": "Naoto",
"id": "sg:person.0677442163.58",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0677442163.58"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Endocrinology and Metabolism, Kyoto Prefectural University of Medicine, Graduate School of Medical Sciences, 465, Kajii-cho, Hirokoji-Kawaramachi, Kamigyo-ku, 602-8566, Kyoto-city, Kyoto, Japan",
"id": "http://www.grid.ac/institutes/grid.272458.e",
"name": [
"Department of Endocrinology and Metabolism, Kyoto Prefectural University of Medicine, Graduate School of Medical Sciences, 465, Kajii-cho, Hirokoji-Kawaramachi, Kamigyo-ku, 602-8566, Kyoto-city, Kyoto, Japan"
],
"type": "Organization"
},
"familyName": "Yoshikawa",
"givenName": "Toshikazu",
"id": "sg:person.01126013224.75",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01126013224.75"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Yamaoka Clinic, 3-13-25, Narashinodai, 274-0063, Funabashi-city, Chiba, Japan",
"id": "http://www.grid.ac/institutes/None",
"name": [
"Yamaoka Clinic, 3-13-25, Narashinodai, 274-0063, Funabashi-city, Chiba, Japan"
],
"type": "Organization"
},
"familyName": "Yamaoka",
"givenName": "Takashi",
"id": "sg:person.01345171141.80",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01345171141.80"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Core Technology Laboratories, Sankyo Co., Limited, 1-2-58, Hiromachi, Shinagawa-ku, 140-8710, Tokyo, Japan",
"id": "http://www.grid.ac/institutes/grid.410844.d",
"name": [
"Core Technology Laboratories, Sankyo Co., Limited, 1-2-58, Hiromachi, Shinagawa-ku, 140-8710, Tokyo, Japan"
],
"type": "Organization"
},
"familyName": "Yasumo",
"givenName": "Hiroaki",
"id": "sg:person.01217012163.49",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01217012163.49"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Genetic Information, Institute for Genome Research, The University of Tokushima, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan",
"id": "http://www.grid.ac/institutes/grid.267335.6",
"name": [
"Division of Genetic Information, Institute for Genome Research, The University of Tokushima, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan"
],
"type": "Organization"
},
"familyName": "Tsugawa",
"givenName": "Kazue",
"id": "sg:person.0773662230.45",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773662230.45"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Genetic Information, Institute for Genome Research, The University of Tokushima, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan",
"id": "http://www.grid.ac/institutes/grid.267335.6",
"name": [
"Division of Genetic Information, Institute for Genome Research, The University of Tokushima, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan"
],
"type": "Organization"
},
"familyName": "Moritani",
"givenName": "Maki",
"id": "sg:person.01234432045.32",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01234432045.32"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Genetic Information, Institute for Genome Research, The University of Tokushima, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan",
"id": "http://www.grid.ac/institutes/grid.267335.6",
"name": [
"Division of Genetic Information, Institute for Genome Research, The University of Tokushima, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan"
],
"type": "Organization"
},
"familyName": "Inoue",
"givenName": "Hiroshi",
"id": "sg:person.0757722527.61",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0757722527.61"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Genetic Information, Institute for Genome Research, The University of Tokushima, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan",
"id": "http://www.grid.ac/institutes/grid.267335.6",
"name": [
"Division of Genetic Information, Institute for Genome Research, The University of Tokushima, 3-18-15, Kuramoto-cho, 770-8503, Tokushima-city, Tokushima, Japan"
],
"type": "Organization"
},
"familyName": "Itakura",
"givenName": "Mitsuo",
"id": "sg:person.01103014626.02",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01103014626.02"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1038/79216",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1025268513",
"https://doi.org/10.1038/79216"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00702-002-0788-2",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047628508",
"https://doi.org/10.1007/s00702-002-0788-2"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng0403-439",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008035803",
"https://doi.org/10.1038/ng0403-439"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/1471-2156-4-s1-s97",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1035288168",
"https://doi.org/10.1186/1471-2156-4-s1-s97"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrg1403",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011765109",
"https://doi.org/10.1038/nrg1403"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s100380170022",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022838661",
"https://doi.org/10.1007/s100380170022"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s10038-004-0199-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1046261929",
"https://doi.org/10.1007/s10038-004-0199-3"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/79839",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002504411",
"https://doi.org/10.1038/79839"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00125-003-1122-8",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002153073",
"https://doi.org/10.1007/s00125-003-1122-8"
],
"type": "CreativeWork"
}
],
"datePublished": "2006-09-26",
"datePublishedReg": "2006-09-26",
"description": "Glutamine: fructose-6-phosphate amidotransferase 1 (GFPT1) acts as a rate-limiting enzyme in the hexosamine biosynthetic pathway, which is an alternative branch of glucose metabolism. To evaluate GFPT1 as a susceptibility gene to type 2 diabetes, we surveyed the polymorphisms related with the gene function of GFPT1 and assessed its contribution to type 2 diabetes with a case-control association study. Screening of the 5\u2032-flanking and all coding regions of GFPT1 revealed eight polymorphisms, one in the 5\u2032-flanking region, one synonymous polymorphism in exon 8, five in introns and one in 3\u2032-UTR, but no mis-sense or non-sense polymorphism. With in silico simulation, a putative promoter region was apparently predicted between 1\u00a0kb upstream and 1\u00a0kb downstream of the start codon. In this region, +36T\u00a0>\u00a0C polymorphism was located on the GC box sequence in intron 1, and its functional effect on promoter activity was confirmed by luciferase reporter assay, introducing a new functional polymorphism of the GFPT1 gene. To examine its association with type 2 diabetes, we analyzed 2,763 Japanese (1,461 controls and 1,302 cases) and 330 Caucasians (190 controls and 140 cases). One possible association of +36T\u00a0>\u00a0C was observed in Caucasians, but no association of polymorphisms including +36T\u00a0>\u00a0C in intron 1 or haplotypes was observed in Japanese. Although we could not completely rule out a contribution to specific sub-groups or other populations, genetic variation of GFPT1 is unlikely to have a major role in the susceptibility to type 2 diabetes in Japanese.",
"genre": "article",
"id": "sg:pub.10.1007/s10038-006-0072-7",
"inLanguage": "en",
"isAccessibleForFree": true,
"isPartOf": [
{
"id": "sg:journal.1294984",
"issn": [
"1434-5161",
"1435-232X"
],
"name": "Journal of Human Genetics",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "12",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "51"
}
],
"keywords": [
"intron 1",
"GC box sequences",
"putative promoter region",
"hexosamine biosynthetic pathway",
"gene function",
"box sequence",
"genetic variation",
"synonymous polymorphism",
"biosynthetic pathway",
"rate-limiting enzyme",
"start codon",
"kb downstream",
"promoter region",
"promoter activity",
"kb upstream",
"association studies",
"case-control association study",
"luciferase reporter",
"susceptibility genes",
"genes",
"GFPT1 gene",
"GFPT1",
"functional effects",
"exon 8",
"polymorphism",
"different populations",
"silico simulations",
"association of polymorphisms",
"alternative branches",
"functional polymorphisms",
"introns",
"major role",
"codon",
"reporter",
"haplotypes",
"enzyme",
"upstream",
"pathway",
"region",
"glucose metabolism",
"glutamine",
"sequence",
"population",
"downstream",
"metabolism",
"type 2 diabetes",
"role",
"association",
"activity",
"susceptibility",
"function",
"variation",
"contribution",
"effect",
"possible association",
"branches",
"diabetes",
"study",
"Caucasians",
"Japanese",
"simulations"
],
"name": "Effect of +36T > C in intron 1 on the glutamine: fructose-6-phosphate amidotransferase 1 gene and its contribution to type 2 diabetes in different populations",
"pagination": "1100-1109",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1044513496"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/s10038-006-0072-7"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"17024311"
]
}
],
"sameAs": [
"https://doi.org/10.1007/s10038-006-0072-7",
"https://app.dimensions.ai/details/publication/pub.1044513496"
],
"sdDataset": "articles",
"sdDatePublished": "2022-05-10T09:52",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-springernature-scigraph/baseset/20220509/entities/gbq_results/article/article_425.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1007/s10038-006-0072-7"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s10038-006-0072-7'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s10038-006-0072-7'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10038-006-0072-7'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10038-006-0072-7'
This table displays all metadata directly associated to this object as RDF triples.
335 TRIPLES
22 PREDICATES
115 URIs
98 LITERALS
26 BLANK NODES