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Genome-wide association study of pancreatic fat: The Multiethnic Cohort Adiposity Phenotype Study.

التفاصيل البيبلوغرافية
العنوان: Genome-wide association study of pancreatic fat: The Multiethnic Cohort Adiposity Phenotype Study.
المؤلفون: Samantha A Streicher, Unhee Lim, S Lani Park, Yuqing Li, Xin Sheng, Victor Hom, Lucy Xia, Loreall Pooler, John Shepherd, Lenora W M Loo, Burcu F Darst, Heather M Highland, Linda M Polfus, David Bogumil, Thomas Ernst, Steven Buchthal, Adrian A Franke, Veronica Wendy Setiawan, Maarit Tiirikainen, Lynne R Wilkens, Christopher A Haiman, Daniel O Stram, Iona Cheng, Loïc Le Marchand
المصدر: PLoS ONE, Vol 16, Iss 7, p e0249615 (2021)
بيانات النشر: Public Library of Science (PLoS), 2021.
سنة النشر: 2021
المجموعة: LCC:Medicine
LCC:Science
مصطلحات موضوعية: Medicine, Science
الوصف: Several 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1932-6203
Relation: https://doaj.org/toc/1932-6203
DOI: 10.1371/journal.pone.0249615
URL الوصول: https://doaj.org/article/b361d70db41041cbb12d5be579e444fb
رقم الأكسشن: edsdoj.b361d70db41041cbb12d5be579e444fb
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:19326203
DOI:10.1371/journal.pone.0249615