Article
Functional characterization of a chr13q22.1 pancreatic cancer risk locus reveals long-range interaction and allele-specific effects on DIS3 expression.
Human molecular genetics - 1 Nov 2016
Hoskins Jason W, Ibrahim Abdisamad, Emmanuel Mickey A, Manmiller Sarah M, Wu Yinglun, O'Neill Maura, Jia Jinping, Collins Irene, Zhang Mingfeng, Thomas Janelle V, Rost Lauren M, Das Sudipto, Parikh Hemang, Haake Jefferson M, Matters Gail L, Kurtz Robert C, Bamlet William R, Klein Alison, Stolzenberg-Solomon Rachael, Wolpin Brian M, Yarden Ronit, Wang Zhaoming, Smith Jill, Olson Sara H, Andresson Thorkell, Petersen Gloria M, Amundadottir Laufey T
Abstract excerpt
Genome-wide association studies (GWAS) have identified multiple common susceptibility loci for pancreatic cancer. Here we report fine-mapping and functional analysis of one such locus residing in a 610 kb gene desert on chr13q22.1 (marked by rs9543325). The closest candidate genes, KLF5, KLF12, PIBF1, DIS3 and BORA, range in distance from 265-586 kb. Sequencing three sub-regions containing the top ranked SNPs by...
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