{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001002336"],"host":["EGA"],"description":["EGA study EGAS00001002336"],"dataset_title":["UK_RCC_GWAS"],"repository":["EGA"],"category":["restricted"],"pubmed_abstract":["Genome-wide association studies (GWASs) of renal cell cancer (RCC) have identified four susceptibility loci thus far. To identify an additional RCC common susceptibility locus, we conducted a GWAS and performed a meta-analysis with published GWASs (totalling 2215 cases and 8566 controls of European background) and followed up the most significant association signals [nine single nucleotide polymorphisms (SNPs) in eight genomic regions] in 3739 cases and 8786 controls. A combined analysis identified a novel susceptibility locus mapping to 2q22.3 marked by rs12105918 (P = 1.80 × 10(-8); odds ratio 1.29, 95% CI: 1.18-1.41). The signal localizes to intron 2 of the ZEB2 gene (zinc finger E box-binding homeobox 2). Our findings suggest that genetic variation in ZEB2 influences the risk of RCC. This finding provides further insights into the genetic and biological basis of inherited genetic susceptibility to RCC."],"pubmed_title":["Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer."],"pubmed_authors":["Henrion Marc M, Frampton Matthew M, Scelo Ghislaine G, Purdue Mark M, Ye Yuanqing Y, Broderick Peter P, Ritchie Alastair A, Kaplan Richard R, Meade Angela A, McKay James J, Johansson Mattias M, Lathrop Mark M, Larkin James J, Rothman Nathaniel N, Wang Zhaoming Z, Chow Wong-Ho WH, Stevens Victoria L VL, Ryan Diver W W, Gapstur Susan M SM, Albanes Demetrius D, Virtamo Jarmo J, Wu Xifeng X, Brennan Paul P, Chanock Stephen S, Eisen Timothy T, Houlston Richard S RS"],"additional_accession":[]},"is_claimable":false,"name":"UK renal cancer samples genotyped on Illumina OmniExpress BeadChip","description":"Renal cell carcinoma (RCC) cases comprised adult patients with histologically proven RCC were collected through two sources within the UK. First, 856 cases from SORCE, a MRC collection of surgically treated RCC cases ascertained through UK clinical oncology centres. Second, 189 RCC cases collected through the ICR and Royal Marsden NHS Hospitals Trust. Cases included 590 clear cell carcinomas (CCCs), 42 papillary carcinomas (PCs), 33 chromophobe carcinomas (CCs) and 19 mixed or other histological subtypes. DNA was extracted from EDTA-venous blood samples using the conventional methods and quantified using PicoGreen (Invitrogen). Cases were genotyped using the Human OmniExpress-12 BeadChip according to the manufacturer's recommendations (Illumina Inc, San Diego, CA, USA). After strict QC, 944 cases were retained. Data provided in plink format.\n\nControls used were data from the Wellcome Trust Case Control Consortium 2 (WTCCC2) 1958 birth cohort and the UK Blood Service Control Group (available as EGAS00000000028).","dates":{"updated":"2022-04-12 11:37:45"},"accession":"EGAS00001002336","cross_references":{"TAXONOMY":["9606"],"pubmed":["23184150"],"EGA":["EGAD00010002310","EGAC00001002629"]}}