Advances and promises of personalized precision medicine for metabolic diseases: Precision metabolic medicine

被引:0
作者
Froguel, P. [1 ,2 ,3 ]
Bonnefond, A. [1 ,2 ]
机构
[1] Univ Lille, European Genom Inst Diabet EGID, Inst Pasteur Lille, Inserm,UMR1283,CNRS,UMR8199, Lille, France
[2] Imperial Coll London, Dept Metab, London, England
[3] EGID, UMR 1283 8199, Pole Rech, 1er Etage Aile Ouest,1 Pl Verdun, F-59045 Lille, France
来源
BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE | 2023年 / 207卷 / 02期
关键词
Diabetes mellitus; Type; 2; Obesity; Genetics; Precision medicine; Case management; OBESITY;
D O I
10.1016/j.banm.2022.11.012
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Type 2 diabetes and obesity are multifactorial diseases with a strong genetic basis. Genetic studies have shown that a significant part of patients carried a pathogenic mutation in genes causing a monogenic form of metabolic disease. These genetic discoveries have open the door to genomic medicine and to personalized treatments fashioned to the etiology of patient's disease: therefore, several genes are told actionable as the discovery of a pathoge-nic mutation should lead to precision medicine that often greatly improves patient's life and outcome at smaller expanses for the society. Genome-wide association studies have identified hundreds of genetic loci associated with the risk of common forms of diabetes or of obesity. Clustering these patients in discrete categories using clinical and biological parameters inclu-ding multi-omics data should bring rational clues for alternative clinical care decreasing the risk of complications and premature death. The 4P metabolic medicine (predictive, preventive, precision and participatory) should emerge from these translational and clinical studies.& COPY; 2022 l'Academie nationale de medecine. Published by Elsevier Masson SAS. All rights reserved.
引用
收藏
页码:199 / 203
页数:5
相关论文
共 10 条
[1]   Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes [J].
Bonnefond, Amelie ;
Semple, Robert K. .
DIABETOLOGIA, 2022, 65 (11) :1782-1795
[2]   Rare and Common Genetic Events in Type 2 Diabetes: What Should Biologists Know? [J].
Bonnefond, Amelie ;
Froguel, Philippe .
CELL METABOLISM, 2015, 21 (03) :357-368
[3]   Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials [J].
Clement, Karine ;
van den Akker, Erica ;
Argente, Jesus ;
Bahm, Allison ;
Chung, Wendy K. ;
Connors, Hillori ;
De Waele, Kathleen ;
Farooqi, I. Sadaf ;
Gonneau-Lejeune, Julie ;
Gordon, Gregory ;
Kohlsdorf, Katja ;
Poitou, Christine ;
Puder, Lia ;
Swain, James ;
Stewart, Murray ;
Yuan, Guojun ;
Wabitsch, Martin ;
Kuehnen, Peter .
LANCET DIABETES & ENDOCRINOLOGY, 2020, 8 (12) :960-970
[4]   CLOSE LINKAGE OF GLUCOKINASE LOCUS ON CHROMOSOME-7P TO EARLY-ONSET NON-INSULIN-DEPENDENT DIABETES-MELLITUS [J].
FROGUEL, P ;
VAXILLAIRE, M ;
SUN, F ;
VELHO, G ;
ZOUALI, H ;
BUTEL, MO ;
LESAGE, S ;
VIONNET, N ;
CLEMENT, K ;
FOUGEROUSSE, F ;
TANIZAWA, Y ;
WEISSENBACH, J ;
BECKMANN, JS ;
LATHROP, GM ;
PASSA, P ;
PERMUTT, MA ;
COHEN, D .
NATURE, 1992, 356 (6365) :162-164
[5]   Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations [J].
Khera, Amit V. ;
Chaffin, Mark ;
Aragam, Krishna G. ;
Haas, Mary E. ;
Roselli, Carolina ;
Choi, Seung Hoan ;
Natarajan, Pradeep ;
Lander, Eric S. ;
Lubitz, Steven A. ;
Ellinor, Patrick T. ;
Kathiresan, Sekar .
NATURE GENETICS, 2018, 50 (09) :1219-+
[6]   Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation [J].
Mahajan, Anubha ;
Spracklen, Cassandra N. ;
Zhang, Weihua ;
Ng, Maggie C. Y. ;
Petty, Lauren E. ;
Kitajima, Hidetoshi ;
Yu, Grace Z. ;
Rueger, Sina ;
Speidel, Leo ;
Kim, Young Jin ;
Horikoshi, Momoko ;
Mercader, Josep M. ;
Taliun, Daniel ;
Moon, Sanghoon ;
Kwak, Soo-Heon ;
Robertson, Neil R. ;
Rayner, Nigel W. ;
Loh, Marie ;
Kim, Bong-Jo ;
Chiou, Joshua ;
Miguel-Escalada, Irene ;
Parolo, Pietro della Briotta ;
Lin, Kuang ;
Bragg, Fiona ;
Preuss, Michael H. ;
Takeuchi, Fumihiko ;
Nano, Jana ;
Guo, Xiuqing ;
Lamri, Amel ;
Nakatochi, Masahiro ;
Scott, Robert A. ;
Lee, Jung-Jin ;
Huerta-Chagoya, Alicia ;
Graff, Mariaelisa ;
Chai, Jin-Fang ;
Parra, Esteban J. ;
Yao, Jie ;
Bielak, Lawrence F. ;
Tabara, Yasuharu ;
Hai, Yang ;
Steinthorsdottir, Valgerdur ;
Cook, James P. ;
Kals, Mart ;
Grarup, Niels ;
Schmidt, Ellen M. ;
Pan, Ian ;
Sofer, Tamar ;
Wuttke, Matthias ;
Sarnowski, Chloe ;
Gieger, Christian .
NATURE GENETICS, 2022, 54 (05) :560-+
[7]   The expression of genes in top obesity-associated loci is enriched in insula and substantia nigra brain regions involved in addiction and reward [J].
Ndiaye, Fatou K. ;
Huyvaert, Marlene ;
Ortalli, Ana ;
Canouil, Mickael ;
Lecoeur, Cecile ;
Verbanck, Marie ;
Lobbens, Stephane ;
Khamis, Amna ;
Marselli, Lorella ;
Marchetti, Piero ;
Kerr-Conte, Julie ;
Pattou, Francois ;
Marre, Michel ;
Roussel, Ronan ;
Balkau, Beverley ;
Froguel, Philippe ;
Bonnefond, Amelie .
INTERNATIONAL JOURNAL OF OBESITY, 2020, 44 (02) :539-543
[8]   Expression and functional assessment of candidate type 2 diabetes susceptibility genes identify four new genes contributing to human insulin secretion [J].
Ndiaye, Fatou K. ;
Ortalli, Ana ;
Canouil, Mickael ;
Huyvaert, Marlene ;
Salazar-Cardozo, Clara ;
Lecoeur, Cecile ;
Verbanck, Marie ;
Pawlowski, Valerie ;
Boutry, Raphael ;
Durand, Emmanuelle ;
Rabearivelo, Iandry ;
Sand, Olivier ;
Marselli, Lorella ;
Kerr-Conte, Julie ;
Chandra, Vikash ;
Scharfmann, Rapharl ;
Poulain-Godefroy, Odile ;
Marchetti, Piero ;
Pattou, Francois ;
Abderrahmani, Amar ;
Froguel, Philippe ;
Bonnefond, Amelie .
MOLECULAR METABOLISM, 2017, 6 (06) :459-470
[9]   Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan [J].
Saeed, Sadia ;
Arslan, Muhammad ;
Manzoor, Jaida ;
Din, Sadia M. ;
Janjua, Qasim M. ;
Ayesha, Hina ;
Ain, Qura-tul ;
Inam, Laraib ;
Lobbens, Stephane ;
Vaillant, Emmanuel ;
Durand, Emmanuelle ;
Derhourhi, Mehdi ;
Amanzougarene, Souhila ;
Badreddine, Alaa ;
Berberian, Lionel ;
Gaget, Stefan ;
Khan, Waqas I. ;
Butt, Taeed A. ;
Bonnefond, Amelie ;
Froguel, Philippe .
DIABETES, 2020, 69 (07) :1424-1438
[10]   Meta-analysis of genome-wide association studies for height and body mass index in ∼700 000 individuals of European ancestry [J].
Yengo, Loic ;
Sidorenko, Julia ;
Kemper, Kathryn E. ;
Zheng, Zhili ;
Wood, Andrew R. ;
Weedon, Michael N. ;
Frayling, Timothy M. ;
Hirschhorn, Joel ;
Yang, Jian ;
Visscher, Peter M. .
HUMAN MOLECULAR GENETICS, 2018, 27 (20) :3641-3649