{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kleinstern G"],"funding":["NCATS NIH HHS","World Health Organization","MSKCC","NCI NIH HHS","National Institutes of Health","Mayo Cancer Genetic Epidemiology Training Program","Anderson’s Cancer Center"],"pagination":["70-79"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7001601"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["29(1)"],"pubmed_abstract":["We previously identified five single nucleotide polymorphisms (SNPs) at four susceptibility loci for diffuse large B-cell lymphoma (DLBCL) in individuals of European ancestry through a large genome-wide association study (GWAS). To further elucidate genetic susceptibility to DLBCL, we sought to validate two loci at 3q13.33 and 3p24.1 that were suggestive in the original GWAS with additional genotyping. In the meta-analysis (5662 cases and 9237 controls) of the four original GWAS discovery scans and three replication studies, the 3q13.33 locus (rs9831894; minor allele frequency [MAF] = 0.40) was associated with DLBCL risk [odds ratio (OR) = 0.83, P = 3.62 × 10-13]. rs9831894 is in linkage disequilibrium (LD) with additional variants that are part of a super-enhancer that physically interact"],"journal":["Human molecular genetics"],"pubmed_title":["Inherited variants at 3q13.33 and 3p24.1 are associated with risk of diffuse large B-cell lymphoma and implicate immune pathways."],"pmcid":["PMC7001601"],"funding_grant_id":["P30CA016672","001","R25 CA92049","P30 CA016672","UM1 CA182934","P30 CA008748","R01 CA200703","UL1 TR001863","NIH P30CA008748","P50 CA097274","R25 CA092049"],"pubmed_authors":["Skibola CF","Vijai J","Sarangi V","Kleinstern G","McKay J","Berndt SI","Vermeulen RCH","Ye Y","Offit K","Monnereau A","Rothman N","Birmann BM","Hildebrandt MAT","Giles GG","Zeleniuch-Jacquotte A","Brooks-Wilson AR","Melbye M","Teras LR","Wu X","Slager SL","Cocco PL","Chanock SJ","Cerhan JR","Salles G","Purdue MP","Smedby KE","Ghesquieres H","Albanes D","Crouch S","Lan Q","Vajdic CM","Zhang Y","Kraft P","Wang SS","Nieters A","Jackson RD","Asmann Y","Yan H"],"additional_accession":[]},"is_claimable":false,"name":"Inherited variants at 3q13.33 and 3p24.1 are associated with risk of diffuse large B-cell lymphoma and implicate immune pathways.","description":"We previously identified five single nucleotide polymorphisms (SNPs) at four susceptibility loci for diffuse large B-cell lymphoma (DLBCL) in individuals of European ancestry through a large genome-wide association study (GWAS). To further elucidate genetic susceptibility to DLBCL, we sought to validate two loci at 3q13.33 and 3p24.1 that were suggestive in the original GWAS with additional genotyping. In the meta-analysis (5662 cases and 9237 controls) of the four original GWAS discovery scans and three replication studies, the 3q13.33 locus (rs9831894; minor allele frequency [MAF] = 0.40) was associated with DLBCL risk [odds ratio (OR) = 0.83, P = 3.62 × 10-13]. rs9831894 is in linkage disequilibrium (LD) with additional variants that are part of a super-enhancer that physically interact","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Jan","modification":"2026-04-29T21:33:11.993Z","creation":"2021-02-20T17:34:11Z"},"accession":"S-EPMC7001601","cross_references":{"pubmed":["31600786"],"doi":["10.1093/hmg/ddz228"]}}