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Sökning: WFRF:(Eliasson M) > (2020-2024) > Genetic regulation ...

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FältnamnIndikatorerMetadata
00005235naa a2200553 4500
001oai:lup.lub.lu.se:d1a3edfa-a90c-4412-8c03-e03b7f2d465a
003SwePub
008220917s2022 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/d1a3edfa-a90c-4412-8c03-e03b7f2d465a2 URI
0247 a https://doi.org/10.1186/s13059-022-02757-02 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Atla, Gouthamu CIBER Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM)4 aut
2451 0a Genetic regulation of RNA splicing in human pancreatic islets
264 c 2022-09-15
264 1b Springer Science and Business Media LLC,c 2022
520 a BackgroundNon-coding genetic variants that influence gene transcription in pancreatic islets play a major role in the susceptibility to type 2 diabetes (T2D), and likely also contribute to type 1 diabetes (T1D) risk. For many loci, however, the mechanisms through which non-coding variants influence diabetes susceptibility are unknown.ResultsWe examine splicing QTLs (sQTLs) in pancreatic islets from 399 human donors and observe that common genetic variation has a widespread influence on the splicing of genes with established roles in islet biology and diabetes. In parallel, we profile expression QTLs (eQTLs) and use transcriptome-wide association as well as genetic co-localization studies to assign islet sQTLs or eQTLs to T2D and T1D susceptibility signals, many of which lack candidate effector genes. This analysis reveals biologically plausible mechanisms, including the association of T2D with an sQTL that creates a nonsense isoform in ERO1B, a regulator of ER-stress and proinsulin biosynthesis. The expanded list of T2D risk effector genes reveals overrepresented pathways, including regulators of G-protein-mediated cAMP production. The analysis of sQTLs also reveals candidate effector genes for T1D susceptibility such as DCLRE1B, a senescence regulator, and lncRNA MEG3.ConclusionsThese data expose widespread effects of common genetic variants on RNA splicing in pancreatic islets. The results support a role for splicing variation in diabetes susceptibility, and offer a new set of genetic targets with potential therapeutic benefit.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng
7001 a Bonàs-Guarch, Silviau Barcelona Institute of Science and Technology4 aut
7001 a Cuenca-Ardura, Mirabaiu CIBER Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM)4 aut
7001 a Beucher, Anthonyu Barcelona Institute of Science and Technology4 aut
7001 a Crouch, Daniel J. M.u University of Oxford4 aut
7001 a Garcia-Hurtado, Javieru CIBER Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM)4 aut
7001 a Moran, Ignasiu Imperial College London4 aut
7001 a Consortium, the T2DSystems4 aut
7001 a Irimia, Manuelu Barcelona Institute of Science and Technology4 aut
7001 a Prasad, Rashmi B.u Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)med-rpa
7001 a Gloyn, Anna L.u University of Oxford4 aut
7001 a Marselli, Lorellau University of Pisa4 aut
7001 a Berney, Thierry4 aut
7001 a de Koning, Eelco J. P.4 aut
7001 a Kerr-Conte, Julie4 aut
7001 a Pattou, Francois4 aut
7001 a Todd, John A.4 aut
7001 a Piemonti, Lorenzo4 aut
7001 a Ferrer, Jorge4 aut
7001 a Eliasson, Lenau Lund University,Lunds universitet,Diabetes - öcellsexocytos,Forskargrupper vid Lunds universitet,Diabetes - Islet Cell Exocytosis,Lund University Research Groups,Skåne University Hospital4 cre0 (Swepub:lu)mphy-lel
7001 a Esguerra, Jonathan Lou S.u Lund University,Lunds universitet,Diabetes - öcellsexocytos,Forskargrupper vid Lunds universitet,Diabetes - Islet Cell Exocytosis,Lund University Research Groups4 cre0 (Swepub:lu)med-jer
7001 a Groop, Leifu Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups4 cre0 (Swepub:lu)endo-lgr
7001 a Mulder, Hindriku Lund University,Lunds universitet,Diabetes - molekylär metabolism,Forskargrupper vid Lunds universitet,Diabetes - Molecular Metabolism,Lund University Research Groups4 cre0 (Swepub:lu)medk-hmu
7102 a CIBER Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM)b Barcelona Institute of Science and Technology4 org
7730 t Genome Biologyd : Springer Science and Business Media LLCg 23, s. 1-28q 23<1-28x 1474-760X
8564 u http://dx.doi.org/10.1186/s13059-022-02757-0x freey FULLTEXT
8564 8u https://lup.lub.lu.se/record/d1a3edfa-a90c-4412-8c03-e03b7f2d465a
8564 8u https://doi.org/10.1186/s13059-022-02757-0

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