Functional Interaction Between SNPs and Microsatellite in the Transcriptional Regulation of Insulin-Like Growth Factor 1
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AbstractA CA-repeat microsatellite in insulin-like growth factor 1 (IGF1) promoter was associated with interindividual variation of circulating IGF1 level. Previously, we reported that such association was due to variation of haplotype unit in a linkage disequilibrium block composed of microsatellite and single-nucleotide polymorphisms (SNPs), suggesting the presence of an interaction between them. In this study, reporter assays were performed to investigate the regulatory effect and interaction of genetic variants on gene expression. We used an in vitro system to compare the transcriptional activities of haplotypes (rs35767:T>C, the CA-repeat microsatellite, rs5742612:T>C, and rs2288377:T>A) in evolutionarily conserved region of IGF1 promoter. In haplotype C-T-T, a longer microsatellite had a lower transcriptional activity (17.6 +/- 2.4-fold for 17 repeats and 8.3 +/- 1.1-fold for 21 repeats), whereas in haplotype T-C-A, such trend could not be observed, as the microsatellite with 21 repeats had the highest transcriptional activity (17.5 +/- 2.3-fold). Because the microsatellite and SNPs affected the transcriptional activity of each other, there may be an interaction between them in the regulation of IGF1 expression. For the first time, we demonstrated that a noncoding microsatellite polymorphism could act as a functional unit and interact with SNPs in the regulation of transcription in human genome. (C) 2013 Wiley Periodicals, Inc.
All Author(s) ListChen HY, Huang W, Leung VHK, Fung SLM, Ma SL, Jiang HL, Tang NLS
Journal nameHuman Mutation
Volume Number34
Issue Number9
Pages1289 - 1297
LanguagesEnglish-United Kingdom
Keywordsgenetic interaction; IGF1; promoter; SNP; transcriptional activity
Web of Science Subject CategoriesGenetics & Heredity; GENETICS & HEREDITY

Last updated on 2020-07-07 at 02:11