Identification of a regulatory SNP in the retinol binding protein 4 gene associated with type 2 diabetes in Mongolia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2007-02

AUTHORS

Lkhagvasuren Munkhtulga, Kazuhiro Nakayama, Nanami Utsumi, Yoshiko Yanagisawa, Takaya Gotoh, Toshinori Omi, Maki Kumada, Batmunkh Erdenebulgan, Khadbaatar Zolzaya, Tserenkhuu Lkhagvasuren, Sadahiko Iwamoto

ABSTRACT

Increased levels of retinol binding protein 4 (RBP4) in serum is associated with insulin resistance. To examine this further, the genomic region of RBP4 was genetically surveyed in Mongolian people, who as a group are suffering from a recent rapid increase in diabetes. The RBP4 gene was screened by DHPLC system, and the PCR fragments which showed heteroduplex peaks in multiple samples were followed by direct sequencing to identify common polymorphisms in 48 Mongolian diabetic samples. Identified single nucleotide polymorphisms (SNPs) were genotyped in 511 control and 281 type 2 diabetes samples. The functions of SNPs in the regulatory region were assessed by reporter gene assay and electrophoretic mobility shift assay. Possible association between functional SNPs and serum RBP4 levels or metabolic parameters was statistically assessed. Nine SNPs were identified in the RBP4 gene. A case-control study revealed that the rare alleles of four SNPs were associated with increased risk of diabetes, even after Bonferroni correction (-803, G > A, P = 0.0054; +5169, C > T, P = 0.0025; +6969, G > C, P = 0.0015; +7542, T > del, P = 0.0015). The -803 G > A SNP influenced the transcription efficiency in a hepatocarcinoma cell line as well as the binding efficiency of hepatocyte nuclear factor 1 alpha to the motif. In addition, the -803 A allele was associated with increased serum RBP4 levels in diabetic patients. We have identified a functional SNP in the RBP4 gene associated with type 2 diabetes in Mongolian people. More... »

PAGES

879-888

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00439-006-0264-4

DOI

http://dx.doi.org/10.1007/s00439-006-0264-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1031885045

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/17006670


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Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

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/s00439-006-0264-4'

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/s00439-006-0264-4'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00439-006-0264-4'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00439-006-0264-4'


 

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