Single nucleotide polymorphisms (SNPs) in LIM domain only 1 (LMO1) are known to be associated with increased risk of neuroblastoma. Oldridge et al. have now found that the SNP rs2168101G>T is most highly associated with neuroblastoma and is found within a super-enhancer in intron 1 of LMO1. The T allele is associated with reduced neuroblastoma risk and ablates binding of the GATA3 transcription factor to the super-enhancer. Therefore, differential GATA transcription factor activity may underlie neuroblastoma risk.
References
Oldridge, D. A., Wood, A. C. et al. Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism. Nature http://dx.doi.org/10.1038/nature15540 (2015)
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Alderton, G. Enhancing risk. Nat Rev Cancer 16, 5 (2016). https://doi.org/10.1038/nrc.2015.16
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DOI: https://doi.org/10.1038/nrc.2015.16