Alternative name(s) : Diabetes and pancreatic exocrine dysfunction; DPED, Diabetes-pancreatic exocrine dysfunction syndrome, CEL-MODY, MODY8
Gene_locus : 1
Mutation : 8
Comment
Carboxyl-Ester Lipase Maturity-Onset Diabetes of the Young (CEL-MODY). By genomewide screen in one of their families with diabetes and exocrine pancreatic dysfunction, Raeder et al. (2006) linked diabetes to 9q34 (maximum lod score 5.07). Using fecal elastase deficiency as a marker of exocrine pancreatic dysfunction, they refined the critical region to 1.16 Mb (maximum lod score 11.6). The linkage candidate region contained 24 genes, of which only CEL (114840) was known to be both highly and predominantly expressed in the pancreas. 30 PubMed Neighbors. In each of the 2 families with autosomal dominantly inherited diabetes and exocrine pancreas dysfunction described by them, Raeder et al. (2006) demonstrated a different single-base deletion causing frameshift in the variable number of tandem repeats (VNTR) of the gene encoding carboxyl-ester lipase (CEL; 114840). They also provided data supporting a polygenic role for this region, as common insertions were associated with exocrine dysfunction in an additional group of diabetic subjects. A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis in some populations
| Title : Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes - Wu_2023_BMJ.Open.Diabetes.Res.Care_11_e003127 |
| Author(s) : Wu H , Shu M , Liu C , Zhao W , Li Q , Song Y , Zhang T , Chen X , Shi Y , Shi P , Fang L , Wang R , Xu C |
| Ref : BMJ Open Diabetes Res Care , 11 : , 2023 |
| Abstract : |
| PubMedSearch : Wu_2023_BMJ.Open.Diabetes.Res.Care_11_e003127 |
| PubMedID: 36634979 |
| Gene_locus related to this paper: human-CEL |
| Title : Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes - Sun_2023_Endocrine__ |
| Author(s) : Sun S , Gong S , Li M , Wang X , Wang F , Cai X , Liu W , Luo Y , Zhang S , Zhang R , Zhou L , Zhu Y , Ma Y , Ren Q , Zhang X , Chen J , Chen L , Wu J , Gao L , Zhou X , Li Y , Zhong L , Han X , Ji L |
| Ref : Endocrine , : , 2023 |
| Abstract : |
| PubMedSearch : Sun_2023_Endocrine__ |
| PubMedID: 37726640 |
| Title : Abnormal exocrine-endocrine cell cross-talk promotes beta-cell dysfunction and loss in MODY8 - Kahraman_2022_Nat.Metab_4_76 |
| Author(s) : Kahraman S , Dirice E , Basile G , Diegisser D , Alam J , Johansson BB , Gupta MK , Hu J , Huang L , Soh CL , Huangfu D , Muthuswamy SK , Raeder H , Molven A , Kulkarni RN |
| Ref : Nat Metab , 4 :76 , 2022 |
| Abstract : |
| PubMedSearch : Kahraman_2022_Nat.Metab_4_76 |
| PubMedID: 35058633 |
| Gene_locus related to this paper: human-CEL |
| Title : Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes - Kondoh_2022_Tohoku.J.Exp.Med_256_37 |
| Author(s) : Kondoh T , Nakajima Y , Yokoi K , Matsumoto Y , Inagaki H , Kato T , Ito T , Yoshikawa T , Kurahashi H |
| Ref : Tohoku J Exp Med , 256 :37 , 2022 |
| Abstract : |
| PubMedSearch : Kondoh_2022_Tohoku.J.Exp.Med_256_37 |
| PubMedID: 35082198 |
| Gene_locus related to this paper: human-CEL |
| Title : Two new mutations in the CEL gene causing diabetes and hereditary pancreatitis: How to correctly identify MODY8 cases - El Jellas_2021_J.Clin.Endocrinol.Metab__ |
| Author(s) : El Jellas K , Dusatkova P , Haldorsen IS , Molnes J , Tjora E , Johansson BB , Fjeld K , Johansson S , Pruhova S , Groop L , Lohr JM , Njolstad PR , Molven A |
| Ref : J Clinical Endocrinology Metab , : , 2021 |
| Abstract : |
| PubMedSearch : El Jellas_2021_J.Clin.Endocrinol.Metab__ |
| PubMedID: 34850019 |
| Gene_locus related to this paper: human-CEL |
| Title : Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding - Cassidy_2020_Hum.Mutat_41_1967 |
| Author(s) : Cassidy BM , Zino S , Fjeld K , Molven A , Lowe ME , Xiao X |
| Ref : Hum Mutat , 41 :1967 , 2020 |
| Abstract : |
| PubMedSearch : Cassidy_2020_Hum.Mutat_41_1967 |
| PubMedID: 32906201 |
| Gene_locus related to this paper: human-CEL |
| Title : Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells - Dalva_2020_Cells_9_244 |
| Author(s) : Dalva M , Lavik IK , El Jellas K , Gravdal A , Lugea A , Pandol SJ , Njolstad PR , Waldron RT , Fjeld K , Johansson BB , Molven A |
| Ref : Cells , 9 :244 , 2020 |
| Abstract : |
| PubMedSearch : Dalva_2020_Cells_9_244 |
| PubMedID: 31963687 |
| Gene_locus related to this paper: human-CEL |
| Title : The hybrid allele 1 of carboxyl-ester lipase (CEL-HYB1) in Polish pediatric patients with chronic pancreatitis - Oracz_2019_Pancreatology_19_531 |
| Author(s) : Oracz G , Kujko AA , Fjeld K , Wertheim-Tysarowska K , Adamus-Bialek W , Steine SJ , Koziel D , Gluszek S , Molven A , Rygiel AM |
| Ref : Pancreatology , 19 :531 , 2019 |
| Abstract : |
| PubMedSearch : Oracz_2019_Pancreatology_19_531 |
| PubMedID: 31036489 |
| Title : Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer - Dalva_2017_Pancreatology_17_83 |
| Author(s) : Dalva M , El Jellas K , Steine SJ , Johansson BB , Ringdal M , Torsvik J , Immervoll H , Hoem D , Laemmerhirt F , Simon P , Lerch MM , Johansson S , Njolstad PR , Weiss FU , Fjeld K , Molven A |
| Ref : Pancreatology , 17 :83 , 2017 |
| Abstract : |
| PubMedSearch : Dalva_2017_Pancreatology_17_83 |
| PubMedID: 27773618 |
| Gene_locus related to this paper: human-CEL |
| Title : Branched Fatty Acid Esters of Hydroxy Fatty Acids Are Preferred Substrates of the MODY8 Protein Carboxyl Ester Lipase - Kolar_2016_Biochemistry_55_4636 |
| Author(s) : Kolar MJ , Kamat SS , Parsons WH , Homan EA , Maher T , Peroni OD , Syed I , Fjeld K , Molven A , Kahn BB , Cravatt BF , Saghatelian A |
| Ref : Biochemistry , 55 :4636 , 2016 |
| Abstract : |
| PubMedSearch : Kolar_2016_Biochemistry_55_4636 |
| PubMedID: 27509211 |
| Gene_locus related to this paper: human-CEL |
| Title : No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations - Zou_2016_Gastroenterology_150_1558 |
| Author(s) : Zou WB , Boulling A , Masamune A , Issarapu P , Masson E , Wu H , Sun XT , Hu LH , Zhou DZ , He L , Fichou Y , Nakano E , Hamada S , Kakuta Y , Kume K , Isayama H , Paliwal S , Mani KR , Bhaskar S , Cooper DN , Ferec C , Shimosegawa T , Chandak GR , Chen JM , Li ZS , Liao Z |
| Ref : Gastroenterology , 150 :1558 , 2016 |
| Abstract : |
| PubMedSearch : Zou_2016_Gastroenterology_150_1558 |
| PubMedID: 26946345 |
| Title : A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis - Fjeld_2015_Nat.Genet_47_518 |
| Author(s) : Fjeld K , Weiss FU , Lasher D , Rosendahl J , Chen JM , Johansson BB , Kirsten H , Ruffert C , Masson E , Steine SJ , Bugert P , Cnop M , Grutzmann R , Mayerle J , Mossner J , Ringdal M , Schulz HU , Sendler M , Simon P , Sztromwasser P , Torsvik J , Scholz M , Tjora E , Ferec C , Witt H , Lerch MM , Njolstad PR , Johansson S , Molven A |
| Ref : Nat Genet , 47 :518 , 2015 |
| Abstract : |
| PubMedSearch : Fjeld_2015_Nat.Genet_47_518 |
| PubMedID: 25774637 |
| Title : The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis - Ragvin_2013_Pancreatology_13_29 |
| Author(s) : Ragvin A , Fjeld K , Weiss FU , Torsvik J , Aghdassi A , Mayerle J , Simon P , Njolstad PR , Lerch MM , Johansson S , Molven A |
| Ref : Pancreatology , 13 :29 , 2013 |
| Abstract : |
| PubMedSearch : Ragvin_2013_Pancreatology_13_29 |
| PubMedID: 23395566 |
| Gene_locus related to this paper: human-CEL |
| Title : Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes - Torsvik_2010_Hum.Genet_127_55 |
| Author(s) : Torsvik J , Johansson S , Johansen A , Ek J , Minton J , Raeder H , Ellard S , Hattersley A , Pedersen O , Hansen T , Molven A , Njolstad PR |
| Ref : Hum Genet , 127 :55 , 2010 |
| Abstract : |
| PubMedSearch : Torsvik_2010_Hum.Genet_127_55 |
| PubMedID: 19760265 |
| Gene_locus related to this paper: human-CEL |
| Title : Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. - Raeder_2006_Nat.Genet_38_54 |
| Author(s) : Raeder H , Johansson S , Holm PI , Haldorsen IS , Mas E , Sbarra V , Nermoen I , Eide SA , Grevle L , Bjorkhaug L , Sagen JV , Aksnes L , Svik O , Lombardo D , Molven A , Njolstad PR |
| Ref : Nat Genet , 38 :54 , 2006 |
| Abstract : |
| PubMedSearch : Raeder_2006_Nat.Genet_38_54 |
| PubMedID: 16369531 |
| Gene_locus related to this paper: human-CEL |