Article
A common intronic variant of PARP1 confers melanoma risk and mediates melanocyte growth via regulation of MITF.
Nature genetics - 1 Sept 2017
Choi Jiyeon, Xu Mai, Makowski Matthew M, Zhang Tongwu, Law Matthew H, Kovacs Michael A, Granzhan Anton, Kim Wendy J, Parikh Hemang, Gartside Michael, Trent Jeffrey M, Teulade-Fichou Marie-Paule, Iles Mark M, Newton-Bishop Julia A, Bishop D Timothy, MacGregor Stuart, Hayward Nicholas K, Vermeulen Michiel, Brown Kevin M
Abstract excerpt
Previous genome-wide association studies have identified a melanoma-associated locus at 1q42.1 that encompasses a ∼100-kb region spanning the PARP1 gene. Expression quantitative trait locus (eQTL) analysis in multiple cell types of the melanocytic lineage consistently demonstrated that the 1q42.1 melanoma risk allele (rs3219090[G]) is correlated with higher PARP1 levels. In silico fine-mapping and functional...
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