Identification of single nucleotide polymorphisms in the TNFRSF17 gene and their association with gastrointestinal disorders

• Published in: Molecules and cells 2010, 29(1), , pp.21-28
• Main Authors: Chae, S.C., Wonkwang University, Iksan, Republic of Korea, Yu, J.I., Wonkwang University, Iksan, Republic of Korea, Oh, G.J., Wonkwang University, Iksan, Republic of Korea, Choi, C.S., Wonkwang University, Iksan, Republic of Korea, Choi, S.C., Wonkwang University, Iksan, Republic of Korea, Yang, Y.S., Wonkwang University, Iksan, Republic of Korea, Yun, K.J., Wonkwang University, Iksan, Republic of Korea
• Format: Article
• Language: English
• Subjects: Adult; B-Cell Maturation Antigen - genetics; B-Cell Maturation Antigen - immunology; B-Cell Maturation Antigen - metabolism; B-Lymphocytes - immunology; B-Lymphocytes - metabolism; Biochemistry; Biomedical and Life Sciences; Biomedicine; Biotechnology; Cell Biology; Colitis, Ulcerative - genetics; Colitis, Ulcerative - immunology; Colitis, Ulcerative - metabolism; Colitis, Ulcerative - physiopathology; Crohn Disease - genetics; Crohn Disease - immunology; Crohn Disease - metabolism; Crohn Disease - physiopathology; DNA Mutational Analysis; Female; Gastrointestinal Tract - immunology; Gastrointestinal Tract - metabolism; Gene Expression Profiling; Gene Expression Regulation; Genetic Predisposition to Disease; haplotype; Haplotypes; Humans; IBD; IBS; Life Sciences; Male; Middle Aged; Oligonucleotide Array Sequence Analysis; POLIMORFISMO; POLYMORPHISM; Polymorphism, Single Nucleotide; POLYMORPHISME; TNFRSF17; 생물학
• ISSN: 1016-8478; 0219-1032
• DOI: 10.1007/s10059-010-0002-6

TNFRSF17 is preferentially expressed in mature B lymphocytes, and may be important for the development of B cells. TNFRSF17 is selected as a candidate susceptibility gene to IBD pathogenesis by our cDNA microarray analysis, and we showed the specific expression of TNFRSF17 in resting and activated CD19+ cells obtained from human blood. We identified four SNPs (g-1729G greater than A, g.2295T greater than C, g.2445G greater than A and g.2493G greater than A) and one variation site (g.894delT) in the TNFRSF17 gene using direct sequencing analysis. In addition, the association of the genotype and allelic frequencies of these SNPs was studied in healthy controls and in patients with ulcerative colitis (UC) or irritable bowel syndrome (IBS). Although, the genotype and allelic frequencies of these SNPs, in the UC and IBS patients, were not significantly different from those in the healthy controls, the distribution of the AAG, GGA, AGG and AAA haplotypes, of the SNPs (g.-1729G greater than A, g.2445G greater than A and g.2493G greater than A) associated with the TNFRSF17 gene, in the UC patients, were notably different from those of the healthy controls (P = 0.002, 0.002, 4.7E-4 and 3.3E-6, respectively). Moreover, the frequencies of the AAG, AGG, GAG and GAA haplotypes were significantly different in the IBS patients compared to the healthy controls (P = 4.2E-5, 4.4E-17, 1.8E-22 and 1.6E-10, respectively). These results suggest that the haplotypes of the TNFRSF17 polymorphisms might be associated with UC and IBS susceptibility.