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KMID : 0381120120340050493
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Genes and Genomics
2012 Volume.34 No. 5 p.493 ~ p.498
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Associations of IFITM3 haplotypes with rheumatoid arthritis in a Korean population
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Lee Sam-Youn
Yu Ji-In
Chae Soo-Cheon
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Abstract
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Interferons (IFNs) play important roles in tumor pathogenesis by controlling apoptosis and through cellular anti-proliferative and differentiation activities. Interferon inducible transmembrane protein (IFITM) family genes were first discovered in interferon-treated neuroblastoma cells. IFITM3 is a member of the IFITM family, and has been described as a key player in the specification of germ cell fate. We have previously identified 7 single nucleotide polymorphisms (SNPs) and multiple variation regions in the IFITM3 gene and have suggested that IFITM3 polymorphisms are associated with a susceptibility to ulcerative colitis (UC). The present study investigates whether the IFITM3 SNPs g.-204T>G, g.-175T>C, and g.42C>T are associated with rheumatoid arthritis (RA). Although, the genotype and allelic frequencies of these SNPs in the RA patients were not different from those in the healthy control group, the distribution of the major haplotypes (GTC, TCT and TTT) of the IFITM3 SNPs in RA patients were significantly different from those in the healthy control group (P = 5.34E-12, 1.47E-5 and 1.51E-18, respectively). Our results strongly suggest that the haplotypes of the IFITM3 polymorphisms may be associated with a susceptibility to RA.
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KEYWORD
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IFITM3, 1-8U, Polymorphism, Haplotype, RA
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