Identification of the polymorphisms in IFITM3 gene and their association in a Korean population with ulcerative colitis

Abstract

Interferons play critical roles in tumor pathogenesis by controlling apoptosis and through cellular anti-proliferative and differentiation activities. Interferon inducible transmembrane protein (IFITM) family genes have been implicated in several cellular processes such as the homotypic cell adhesion functions of IFN and cellular anti-proliferative activities. Expression levels of IFITM genes have been found to be up-regulated in gastric cancer cells and colorectal tumors. IFITM3 (also known as 1-8U) is a member of the IFITM family, and has been described as a key player in specification of germ cell fate. IFITM3 was first isolated from a genetic screen aimed at identifying genes involved in acquisition of germ cell competence. It has been proposed that epiblast cells have the highest expression of IFITM3 initiated germ cell specification and that homotypic association can discriminate germ cells from their somatic neighbors. In an attempt to better understand the genetic influences of IFITM3 on ulcerative colitis, we have identified possible variation sites and single nucleotide polymorphisms (SNPs) through two exons and their boundary IFITM3 intron sequences including the ∼2.1 kb promoter regions. To determine whether or not these IFITM3 SNPs are associated with susceptibility to ulcerative colitis, frequencies of the genotype and allele of IFITM3 polymorphisms were analyzed on genomic DNAs isolated from patients with ulcerative colitis and from healthy controls. We also investigated the haplotype frequencies constructed by these SNPs in both groups. In this study, we also showed that expression level of IFITM3 mRNA was significantly higher in tissues of the ileum and cecum of the digestive system. We identified a total of seven SNPs and multiple variation regions in the IFITM3 gene. The genotype frequency of the g.-204T＞G polymorphism in patients with ulcerative colitis was significantly different from that of the control group. Our results strongly suggest that polymorphisms of the IFITM3 gene may be associated with susceptibility to ulcerative colitis.

No Correlation of the Disease Severity of Influenza A Virus Infection with the rs12252 Polymorphism of the Interferon-Induced Transmembrane Protein 3 Gene

“…However, the genotype frequencies are significantly different from those reported in Europeans ( p < 0.001), the CEU (Utah Residents with Northern and Western European ancestry)/FIN (Finnish in Finland)/GBR (British in England and Scotland)/IBI (Iberian population in Spain)/TSI (Toscani in Italia), UK ( p < 0.001), northern European ( p < 0.001), and YRI (Yoruba in Ibadan, Nigera) ( p < 0.001) populations ( Table 1 ). In addition, the genotype frequency for rs12252 SNP in our data is significantly different from that in the study by Seo et al [13] . This result may be due to differences in the genotyping method used.…”

“…The p value score ( p = 0.536) of our data was higher than that of their group ( p = 0.142). These results suggest that the genotyping results of our group are more reliable than those of Seo et al [13] . We searched the literature in PubMed for data on hospitalized influenza A patients (nonsevere and severe cases, including cases of death) and performed a statistical analysis.…”

“…This result may be due to differences in the genotyping method used. In the paper by Seo et al [13] , genotyping of this SNP was performed by restriction fragment length polymorphism (RFLP) analysis. However, we carried out direct DNA sequencing analysis.…”

Identification of the Polymorphisms in IFITM2 and IFITM5 Genes and their Association with Ulcerative Colitis

“…IFITM5 (also known as OI5, BRIL and DSPA1) is highly expressed in osteoblasts and thought to have a function in bone formation and osteoblast maturation [7]. Actually, the IFITM5 gene has been found to be mutated in patients with osteogenesis imperfecta (OI) type V [11,26]. Some of the OI patients have been identified with the heterozygous mutation in the 5′-UTR of IFITM5.…”

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

“…Interferon induced transmembrane protein 1 (IFITM1, also known as CD225, [9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27] or LEU13) is a member of the IFITM protein family, which mediates cellular processes, including the homotypic cell adhesion functions of IFNs. Expression levels of IFITM genes have been found to be up-regulated in gastric cancer cell and colorectal tumors [7,8].…”