An intronic polymorphism of IRF4 gene influences gene transcription in vitro and shows a risk association with childhood acute lymphoblastic leukemia in males
作者： Thuy N Do , Esma Ucisik-Akkaya , Charronne F Davis , Brittany A Morrison , M Tevfik Dorak
DOI: 10.1016/J.BBADIS.2009.10.015
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摘要: Abstract The interferon regulatory factor (IRF) family of DNA-binding proteins regulates expression interferon-inducible genes with roles in the immune response and carcinogenesis. IRF4 is involved differentiation B T cells overexpressed B-cell malignancies as a result c-REL (NF-κB) hyperactivation. polymorphisms are associated susceptibility to chronic lymphoid leukemia (CLL) non-Hodgkin lymphoma (NHL). We examined 13 SNPs 114 cases childhood acute lymphoblastic (ALL) 388 newborn controls from Wales (U.K.) using TaqMan assays. intron 4 SNP rs12203592 showed male-specific risk association (OR = 4.4, 95% CI = 1.5 12.6, P = 0.007). Functional consequences C > T substitution at this were assessed by cell-based reporter assays three different cell lines. found repressive effect wildtype allele C on promoter activity (
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