Linked Life Data

11532984

Source:http://linkedlifedata.com/resource/pubmed/id/11532984

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
17
pubmed:dateCreated
2001-9-4
pubmed:databankReference
pubmed:abstractText
In the mouse, the SH3P12 or the c-Cbl-associated protein (CAP) has been shown as an important signaling molecule in insulin-stimulated glucose uptake. The human homolog for the sorbin and SH3-domain-containing-1 gene, termed SORBS1, might play a role in human disorders with insulin resistance. To explore the genetic role of SORBS1 in human obesity and type 2 diabetes, we investigated the nucleotide polymorphisms in the SORBS1 gene with molecular scanning. After scanning for a total of 13,136 bp in each of 40 chromosomes, we have identified 14 single nucleotide polymorphisms (SNPs) in the human SORBS1 gene. Among them, two SNPs affected amino acid coding (R74W and T228A), four occurred within exons but did not affect amino acid coding, and the remaining eight occurred within introns, which were located outside of the consensus region of the splicing mechanism. Further studies in 202 non-obese, 113 obese and 455 subjects with type 2 diabetes revealed that the A-allele of the T228A polymorphism in exon 7 exerted a protective role for both obesity [relative risk 0.466; 95% confidence interval (95% CI) 0.265-0.821] and diabetes (relative risk 0.668; 95% CI 0.472-0.945). Neither allele of the R74W polymorphism was associated with either obesity or diabetes. In conclusion, our results suggest that the A228 allele of the T228A polymorphism of the SORBS1 gene is a protective factor for both obesity and diabetes, and also imply that the SORBS1 gene plays an important role in the pathogenesis of human disorders with insulin resistance.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1753-60
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:11532984-Amino Acid Sequence, pubmed-meshheading:11532984-Animals, pubmed-meshheading:11532984-Diabetes Mellitus, pubmed-meshheading:11532984-Diabetes Mellitus, Type 2, pubmed-meshheading:11532984-Humans, pubmed-meshheading:11532984-Insulin Resistance, pubmed-meshheading:11532984-Mice, pubmed-meshheading:11532984-Microfilament Proteins, pubmed-meshheading:11532984-Molecular Sequence Data, pubmed-meshheading:11532984-Obesity, pubmed-meshheading:11532984-Polymerase Chain Reaction, pubmed-meshheading:11532984-Polymorphism, Genetic, pubmed-meshheading:11532984-Polymorphism, Restriction Fragment Length, pubmed-meshheading:11532984-Receptor, Insulin, pubmed-meshheading:11532984-Sequence Analysis, DNA, pubmed-meshheading:11532984-Sequence Homology, Amino Acid, pubmed-meshheading:11532984-src Homology Domains
pubmed:year
2001
pubmed:articleTitle
Molecular scanning of the human sorbin and SH3-domain-containing-1 (SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes.
pubmed:affiliation
Department of Internal Medicine, National Taiwan University Hospital, 7 Chung Shan South Road, Taipei, Taiwan.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't