Article
A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer.
American journal of human genetics - 7 Oct 2021
Jermusyk Ashley, Zhong Jun, Connelly Katelyn E, Gordon Naomi, Perera Sumeth, Abdolalizadeh Ehssan, Zhang Tongwu, O'Brien Aidan, Hoskins Jason W, Collins Irene, Eiser Daina, Yuan Chen, Risch Harvey A, Jacobs Eric J, Li Donghui, Du Mengmeng, Stolzenberg-Solomon Rachael Z, Klein Alison P, Smith Jill P, Wolpin Brian M, Chanock Stephen J, Shi Jianxin, Petersen Gloria M, Westlake Christopher J, Amundadottir Laufey T
Abstract excerpt
Genome-wide association studies (GWASs) have discovered 20 risk loci in the human genome where germline variants associate with risk of pancreatic ductal adenocarcinoma (PDAC) in populations of European ancestry. Here, we fine-mapped one such locus on chr16q23.1 (rs72802365, p = 2.51 × 10-17, OR = 1.36, 95% CI = 1.31-1.40) and identified colocalization (PP = 0.87) with aberrant exon 5-7 CTRB2 splicing in...
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