About: Identification of the polymorphisms in IFITM1 gene and their association in a Korean population with ulcerative colitis

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About: Identification of the polymorphisms in IFITM1 gene and their association in a Korean population with ulcerative colitis Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : wasabi.inria.fr associated with source document(s)

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type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Identification of the polymorphisms in IFITM1 gene and their association in a Korean population with ulcerative colitis
Creator	Chae, Soo-Cheon Mo, Ji-Su Na, Kyung-Sook Yu, Ji-In
Source	Elsevier; Medline; PMC
abstract	Abstract Interferon inducible transmembrane protein (IFITM) family genes have been implicated in several cellular processes such as the homotypic cell adhesion functions of IFNs and cellular anti-proliferative activities. We previously showed that the IFITM3 single nucleotide polymorphisms (SNPs) associated with susceptibility to ulcerative colitis (UC). The present study aimed to investigate whether the polymorphisms in the IFITM1 gene are associated with susceptibility to UC. We also evaluated the expression levels in the putative functional promoter polymorphisms to determine the change of their activity. Gene expression profiles in the tissues obtained from human digestive tracts by RT-PCR, and the possible variation sites and SNPs of IFITM1 were identified by direct sequencing method. Genotype analysis in the IFITM1 SNPs was performed by high resolution melting and TaqMan probe analysis, and the haplotype frequencies of IFITM1 SNPs for multiple loci were estimated using the expectation maximization (EM) algorithm. The expression levels in the putative functional promoter polymorphisms were evaluated by performing a luciferase reporter assay. We identified two SNPs and two variation sites, g.-1920G>A (rs77537847), g.-1547delA (novel) and g.-416C>G (rs11246062) in the promoter region, and g.364delA (rs200576757) in intron 1. The genotype and allele frequencies of the g.-1920G>A polymorphism of IFITM1 gene in the UC patients were significantly different from those of the healthy controls (P =0.002 and 0.042, respectively). These results suggest that the g.-1920G>A polymorphism in IFITM1 may be associated with susceptibility to UC.
has issue date	2013-12-31(xsd:dateTime)
bibo:doi	10.1016/j.imlet.2013.09.026
bibo:pmid	24120510
has license	els-covid
sha1sum (hex)	8c7d6b3f5280ce7538e515530b18e837203c6af9
schema:url	https://doi.org/10.1016/j.imlet.2013.09.026
resource representing a document's title	Identification of the polymorphisms in IFITM1 gene and their association in a Korean population with ulcerative colitis
has PubMed Central identifier	PMC7126213
has PubMed identifier	24120510
schema:publication	Immunology Letters
resource representing a document's body	covid:8c7d6b3f5280ce7538e515530b18e837203c6af9#body_text
is schema:about of	named entity 'ASSOCIATION' named entity 'SNPs' named entity 'assay' named entity 'functions' named entity 'functional' named entity 'expression' named entity 'evaluated' named entity 'CONTROLS' named entity 'POPULATION' named entity 'INDUCIBLE' named entity 'GENOTYPE ANALYSIS' named entity 'THEIR' named entity 'POLYMORPHISMS' named entity 'HIGH RESOLUTION' named entity 'FUNCTIONAL' named entity 'MELTING' named entity 'PROLIFERATIVE' named entity 'CELLULAR' named entity 'MULTIPLE' named entity 'CELL ADHESION' named entity 'EXPECTATION MAXIMIZATION' named entity 'ASSOCIATED WITH' named entity 'TO INVESTIGATE' named entity 'LEVELS' named entity 'OBTAINED' named entity 'PATIENTS' named entity 'PRESENT' named entity 'VARIATION' named entity 'FUNCTIONS' named entity 'KOREAN' named entity 'ULCERATIVE COLITIS' named entity 'ULCERATIVE COLITIS' named entity 'ACTIVITY' named entity 'IDENTIFIED BY' named entity 'IDENTIFICATION' named entity 'IFITM1 GENE' named entity 'DIRECT SEQUENCING METHOD' named entity 'SITES' named entity 'IFITM1 GENE' named entity 'LUCIFERASE' named entity 'SINGLE NUCLEOTIDE POLYMORPHISMS' named entity 'THESE' named entity 'DIFFERENT' named entity 'RT-PCR' named entity 'REPORTER ASSAY' named entity 'FREQUENCIES' named entity 'INTERFERON ' named entity '28P' named entity 'POSSIBLE' named entity 'PREVIOUSLY' named entity 'STUDY' named entity 'THE CHANGE' named entity 'FAMILY' named entity 'ESTIMATED' named entity 'LOCI' named entity 'HUMAN' named entity 'SNPS' named entity 'INTRON' named entity 'GENES' named entity 'ANALYSIS' named entity 'RESULTS' named entity 'GENOTYPE' named entity 'POLYMORPHISM' named entity 'USING' named entity 'PROMOTER' named entity 'ALLELE' named entity 'CELLULAR PROCESSES' named entity 'HAPLOTYPE' named entity 'IDENTIFIED' named entity 'IFITM3' named entity 'SUSCEPTIBILITY' named entity 'REGION' named entity 'SUGGEST' named entity 'TISSUES' named entity 'GENE EXPRESSION PROFILES' named entity 'POLYMORPHISMS' named entity 'EXPRESSION' named entity 'TRANSMEMBRANE PROTEIN'

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