Genetics of Type 2 Diabetes: Past, Present, and Future

被引:56
作者
Laakso, Markku [1 ,2 ]
Silva, Lilian Fernandes [1 ]
机构
[1] Univ Eastern Finland, Inst Clin Med, Internal Med, Kuopio 70210, Finland
[2] Kuopio Univ Hosp, Dept Med, Kuopio 70210, Finland
关键词
type; 2; diabetes; genetics; genome-wide association studies; precision medicine; GENOME-WIDE ASSOCIATION; LARGE-SCALE ASSOCIATION; CORONARY-ARTERY-DISEASE; BODY-MASS INDEX; INSULIN-RESISTANCE; LOW-FREQUENCY; MENDELIAN RANDOMIZATION; SUSCEPTIBILITY LOCI; PRECISION MEDICINE; GLYCEMIC TRAITS;
D O I
10.3390/nu14153201
中图分类号
R15 [营养卫生、食品卫生]; TS201 [基础科学];
学科分类号
100403 ;
摘要
Diabetes has reached epidemic proportions worldwide. Currently, approximately 537 million adults (20-79 years) have diabetes, and the total number of people with diabetes is continuously increasing. Diabetes includes several subtypes. About 80% of all cases of diabetes are type 2 diabetes (T2D). T2D is a polygenic disease with an inheritance ranging from 30 to 70%. Genetic and environment/lifestyle factors, especially obesity and sedentary lifestyle, increase the risk of T2D. In this review, we discuss how studies on the genetics of diabetes started, how they expanded when genome-wide association studies and exome and whole-genome sequencing became available, and the current challenges in genetic studies of diabetes. T2D is heterogeneous with respect to clinical presentation, disease course, and response to treatment, and has several subgroups which differ in pathophysiology and risk of micro- and macrovascular complications. Currently, genetic studies of T2D focus on these subgroups to find the best diagnoses and treatments for these patients according to the principles of precision medicine.
引用
收藏
页数:12
相关论文
共 91 条
[11]   A brief history of human disease genetics [J].
Claussnitzer, Melina ;
Cho, Judy H. ;
Collins, Rory ;
Cox, Nancy J. ;
Dermitzakis, Emmanouil T. ;
Hurles, Matthew E. ;
Kathiresan, Sekar ;
Kenny, Eimear E. ;
Lindgren, Cecilia M. ;
MacArthur, Daniel G. ;
North, Kathryn N. ;
Plon, Sharon E. ;
Rehm, Heidi L. ;
Risch, Neil ;
Rotimi, Charles N. ;
Shendure, Jay ;
Soranzo, Nicole ;
McCarthy, Mark I. .
NATURE, 2020, 577 (7789) :179-189
[12]   A New Initiative on Precision Medicine [J].
Collins, Francis S. ;
Varmus, Harold .
NEW ENGLAND JOURNAL OF MEDICINE, 2015, 372 (09) :793-795
[13]   BMI as a Modifiable Risk Factor for Type 2 Diabetes: Refining and Understanding Causal Estimates Using Mendelian Randomization [J].
Corbin, Laura J. ;
Richmond, Rebecca C. ;
Wade, Kaitlin H. ;
Burgess, Stephen ;
Bowden, Jack ;
Smith, George Davey ;
Timpson, Nicholas J. .
DIABETES, 2016, 65 (10) :3002-3007
[14]   Causal Associations of Adiposity and Body Fat Distribution With Coronary Heart Disease, Stroke Subtypes, and Type 2 Diabetes Mellitus A Mendelian Randomization Analysis [J].
Dale, Caroline E. ;
Fatemifar, Ghazaleh ;
Palmer, Tom M. ;
White, Jon ;
Prieto-Merino, David ;
Zabaneh, Delilah ;
Engmann, Jorgen E. L. ;
Shah, Tina ;
Wong, Andrew ;
Warren, Helen R. ;
McLachlan, Stela ;
Trompet, Stella ;
Moldovan, Max ;
Morris, Richard W. ;
Sofat, Reecha ;
Kumari, Meena ;
Hypponen, Elina ;
Jefferis, Barbara J. ;
Gaunt, Tom R. ;
Ben-Shlomo, Yoav ;
Zhou, Ang ;
Gentry-Maharaj, Aleksandra ;
Ryan, Andy ;
de Mutsert, Renee ;
Noordam, Raymond ;
Caulfield, Mark J. ;
Jukema, J. Wouter ;
Worrall, Bradford B. ;
Munroe, Patricia B. ;
Menon, Usha ;
Power, Chris ;
Kuh, Diana ;
Lawlor, Debbie A. ;
Humphries, Steve E. ;
Mook-Kanamori, Dennis O. ;
Sattar, Naveed ;
Kivimaki, Mika ;
Price, Jacqueline F. ;
Smith, George Davey ;
Dudbridge, Frank ;
Hingorani, Aroon D. ;
Holmes, Michael V. ;
Casas, Juan P. .
CIRCULATION, 2017, 135 (24) :2373-+
[15]   Practical aspects of imputation-driven meta-analysis of genome-wide association studies [J].
de Bakker, Paul I. W. ;
Ferreira, Manuel A. R. ;
Jia, Xiaoming ;
Neale, Benjamin M. ;
Raychaudhuri, Soumya ;
Voight, Benjamin F. .
HUMAN MOLECULAR GENETICS, 2008, 17 :R122-R128
[16]   A Pro12Ala substitution in PPARγ2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity [J].
Deeb, SS ;
Fajas, L ;
Nemoto, M ;
Pihlajamäki, J ;
Mykkänen, L ;
Kuusisto, J ;
Laakso, M ;
Fujimoto, W ;
Auwerx, J .
NATURE GENETICS, 1998, 20 (03) :284-287
[17]   Genetics of Type 2 Diabetes: Implications from Large-Scale Studies [J].
DeForest, Natalie ;
Majithia, Amit R. .
CURRENT DIABETES REPORTS, 2022, 22 (05) :227-235
[18]   Precision Medicine in Type 2 Diabetes: Using Individualized Prediction Models to Optimize Selection of Treatment [J].
Dennis, John M. .
DIABETES, 2020, 69 (10) :2075-2085
[19]   Type 2 Diabetes Partitioned Polygenic Scores Associate With Disease Outcomes in 454,193 Individuals Across 13 Cohorts [J].
DiCorpo, Daniel ;
LeClair, Jessica ;
Cole, Joanne B. ;
Sarnowski, Chloe ;
Ahmadizar, Fariba ;
Bielak, Lawrence F. ;
Blokstra, Anneke ;
Bottinger, Erwin P. ;
Chaker, Layal ;
Chen, Yii-Der, I ;
Chen, Ye ;
de Vries, Paul S. ;
Faquih, Tariq ;
Ghanbari, Mohsen ;
Gudmundsdottir, Valborg ;
Guo, Xiuqing ;
Hasbani, Natalie R. ;
Ibi, Dorina ;
Ikram, M. Arfan ;
Kavousi, Maryam ;
Leonard, Hampton L. ;
Leong, Aaron ;
Mercader, Josep M. ;
Morrison, Alanna C. ;
Nadkarni, Girish N. ;
Nalls, Mike A. ;
Noordam, Raymond ;
Preuss, Michael ;
Smith, Jennifer A. ;
Trompet, Stella ;
Vissink, Petra ;
Yao, Jie ;
Zhao, Wei ;
Boerwinkle, Eric ;
Goodarzi, Mark O. ;
Gudnason, Vilmundur ;
Jukema, J. Wouter ;
Kardia, Sharon L. R. ;
Loos, Ruth J. F. ;
Liu, Ching-Ti ;
Manning, Alisa K. ;
Mook-Kanamori, Dennis ;
Pankow, James S. ;
Picavet, H. Susan J. ;
Sattar, Naveed ;
Simonsick, Eleanor M. ;
Verschuren, W. M. Monique ;
van Dijk, Ko Willems ;
Florez, Jose C. ;
Rotter, Jerome, I .
DIABETES CARE, 2022, 45 (03) :674-683
[20]   Meta-analysis of association between TCF7L2 polymorphism rs7903146 and type 2 diabetes mellitus [J].
Ding, Weiyue ;
Xu, Li ;
Zhang, Lejun ;
Han, Zhijie ;
Jiang, Qinghua ;
Wang, Zhe ;
Jin, Shuilin .
BMC MEDICAL GENETICS, 2018, 19