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dc.contributor.authorStreicher, Samantha A
dc.contributor.authorLim, Unhee
dc.contributor.authorPark, S Lani
dc.contributor.authorLi, Yuqing
dc.contributor.authorSheng, Xin
dc.contributor.authorHom, Victor
dc.contributor.authorXia, Lucy
dc.contributor.authorPooler, Loreall
dc.contributor.authorShepherd, John
dc.contributor.authorLoo, Lenora W M
dc.contributor.authorDarst, Burcu F
dc.contributor.authorHighland, Heather M
dc.contributor.authorPolfus, Linda M
dc.contributor.authorBogumil, David
dc.contributor.authorErnst, Thomas
dc.contributor.authorBuchthal, Steven
dc.contributor.authorFranke, Adrian A
dc.contributor.authorSetiawan, Veronica Wendy
dc.contributor.authorTiirikainen, Maarit
dc.contributor.authorWilkens, Lynne R
dc.contributor.authorHaiman, Christopher A
dc.contributor.authorStram, Daniel O
dc.contributor.authorCheng, Iona
dc.contributor.authorLe Marchand, Loïc
dc.date.accessioned2021-08-03T14:36:22Z
dc.date.available2021-08-03T14:36:22Z
dc.date.issued2021-07-30
dc.identifier.urihttp://hdl.handle.net/10713/16291
dc.description.abstractSeveral studies have found associations between higher pancreatic fat content and adverse health outcomes, such as diabetes and the metabolic syndrome, but investigations into the genetic contributions to pancreatic fat are limited. This genome-wide association study, comprised of 804 participants with MRI-assessed pancreatic fat measurements, was conducted in the ethnically diverse Multiethnic Cohort-Adiposity Phenotype Study (MEC-APS). Two genetic variants reaching genome-wide significance, rs73449607 on chromosome 13q21.2 (Beta = -0.67, P = 4.50x10-8) and rs7996760 on chromosome 6q14 (Beta = -0.90, P = 4.91x10-8) were associated with percent pancreatic fat on the log scale. Rs73449607 was most common in the African American population (13%) and rs79967607 was most common in the European American population (6%). Rs73449607 was also associated with lower risk of type 2 diabetes (OR = 0.95, 95% CI = 0.89-1.00, P = 0.047) in the Population Architecture Genomics and Epidemiology (PAGE) Study and the DIAbetes Genetics Replication and Meta-analysis (DIAGRAM), which included substantial numbers of non-European ancestry participants (53,102 cases and 193,679 controls). Rs73449607 is located in an intergenic region between GSX1 and PLUTO, and rs79967607 is in intron 1 of EPM2A. PLUTO, a lncRNA, regulates transcription of an adjacent gene, PDX1, that controls beta-cell function in the mature pancreas, and EPM2A encodes the protein laforin, which plays a critical role in regulating glycogen production. If validated, these variants may suggest a genetic component for pancreatic fat and a common etiologic link between pancreatic fat and type 2 diabetes.en_US
dc.description.urihttps://doi.org/10.1371/journal.pone.0249615en_US
dc.language.isoenen_US
dc.publisherPublic Library of Scienceen_US
dc.relation.ispartofPLoS ONEen_US
dc.subjectpancreatic faten_US
dc.subject.meshAdiposity--geneticsen_US
dc.subject.meshGenome-Wide Association Studyen_US
dc.subject.meshMultiethnic Cohort-Adiposity Phenotype Study (MEC-APS)en_US
dc.subject.meshPancreasen_US
dc.titleGenome-wide association study of pancreatic fat: The Multiethnic Cohort Adiposity Phenotype Studyen_US
dc.typeArticleen_US
dc.identifier.doi10.1371/journal.pone.0249615
dc.identifier.pmid34329319
dc.source.volume16
dc.source.issue7
dc.source.beginpagee0249615
dc.source.endpage
dc.source.countryUnited States


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