{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Connelly KE"],"funding":["NHLBI NIH HHS","NCI NIH HHS","U.S. Department of Health &amp; Human Services | NIH | NCI | Division of Cancer Epidemiology and Genetics, National Cancer Institute","WHI NIH HHS"],"pagination":["4055"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12044007"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["16(1)"],"pubmed_abstract":["Pancreatic Ductal Adenocarcinoma (PDAC) is the third leading cause of cancer-related deaths in the U.S. Both rare and common germline variants contribute to PDAC risk. Here, we fine-map and functionally characterize a common PDAC risk signal at chr1p36.33 (tagged by rs13303010) identified through a genome wide association study (GWAS). One of the fine-mapped SNPs, rs13303160 (OR = 1.23 (95% CI 1.15-1.32), P-value = 2.74×10<sup>-9</sup>, LD r<sup>2</sup> = 0.93 with rs13303010 in 1000 G EUR samples) demonstrated allele-preferential gene regulatory activity in vitro and binding of JunB and JunD in vitro and in vivo. Expression Quantitative Trait Locus (eQTL) analysis identified KLHL17 as a likely target gene underlying the signal. Proteomic analysis identified KLHL17 as a member of the Culli"],"journal":["Nature communications"],"pubmed_title":["Allelic effects on KLHL17 expression underlie a pancreatic cancer genome-wide association signal at chr1p36.33."],"pmcid":["PMC12044007"],"funding_grant_id":["75N92021D00001","RC1 HL099355","75N92021D00002","75N92021D00003","UM1 CA182913","75N92021D00004","R01 HL043851","75N92021D00005","R01 CA047988","R01 HL080467","U01 CA210171","U01 CA182913"],"pubmed_authors":["Hullin K","Giovannucci EL","Willett WC","Southey MC","Hassan M","Sesso HD","Setiawan VW","Wactawski-Wende J","Neale RE","Manning MR","Berndt SI","Silverman D","O'Brien A","Rothman N","Andreotti G","LeMarchand L","Peters U","Visvanathan K","Holly EA","Chen Y","Hoskins JW","Katzke V","Connelly KE","Bracci PM","Chanock SJ","Mucci L","Li D","Buring JE","Pancreatic Cancer Cohort Consortium","Zheng W","Jones MR","Arslan AA","Yuan C","Rabe KG","Wolpin BM","Lee IM","Amundadottir LT","Stoltzenberg-Solomon RZ","Goodman PJ","Kraft P","Truong T","Zhong J","Canzian F","Hutchinson A","Das S","Beane-Freeman L","Tobias GS","Antwi SO","Milne R","Chung CC","Goggins M","Yu H","Pancreatic Cancer Case-Control Consortium","Real FX","Gallinger S","Hung RJ","Malats N","White E","Haiman CA","Andresson T","Duncan G","Patel AV","Shu XO","Mannisto S","Klein AP","Stampfer MJ","Smith JP","Abdolalizadeh E","Eliassen AH","Albanes D","Um C","Wentzensen N","Risch HA","Kooperberg C","Collins I","Stolzenberg-Solomon RZ","Gaziano JM","Moore SC","Eiser D","Hicks B","Campa D"],"additional_accession":[]},"is_claimable":false,"name":"Allelic effects on KLHL17 expression underlie a pancreatic cancer genome-wide association signal at chr1p36.33.","description":"Pancreatic Ductal Adenocarcinoma (PDAC) is the third leading cause of cancer-related deaths in the U.S. Both rare and common germline variants contribute to PDAC risk. Here, we fine-map and functionally characterize a common PDAC risk signal at chr1p36.33 (tagged by rs13303010) identified through a genome wide association study (GWAS). One of the fine-mapped SNPs, rs13303160 (OR = 1.23 (95% CI 1.15-1.32), P-value = 2.74×10<sup>-9</sup>, LD r<sup>2</sup> = 0.93 with rs13303010 in 1000 G EUR samples) demonstrated allele-preferential gene regulatory activity in vitro and binding of JunB and JunD in vitro and in vivo. Expression Quantitative Trait Locus (eQTL) analysis identified KLHL17 as a likely target gene underlying the signal. Proteomic analysis identified KLHL17 as a member of the Culli","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Apr","modification":"2026-06-02T06:40:30.562Z","creation":"2025-07-08T03:12:54.918Z"},"accession":"S-EPMC12044007","cross_references":{"pubmed":["40307206"],"doi":["10.1038/s41467-025-59109-2"]}}