Genetic studies of type 2 diabetes, and microvascular complications of diabetes

被引:3
作者
Imamura, Minako [1 ,2 ]
Maeda, Shiro [1 ,2 ]
机构
[1] Univ Ryukyus, Grad Sch Med, Dept Adv Genom & Lab Med, Nishihara, Okinawa 9030215, Japan
[2] Univ Ryukyus Hosp, Div Clin Lab & Blood Transfus, Nishihara, Okinawa 9300215, Japan
关键词
Type; 2; diabetes; Microvascular complications of diabetes; Genome-wide association study; Polygenic risk score; GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; RISK-FACTORS; JAPANESE PATIENTS; KIDNEY-DISEASE; RETINOPATHY; HERITABILITY; METAANALYSIS; VARIANTS; POLYMORPHISMS;
D O I
10.1007/s13340-024-00727-4
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Genome-wide association studies (GWAS) have significantly advanced the identification of genetic susceptibility variants associated with complex diseases. As of 2023, approximately 800 variants predisposing individuals to the risk of type 2 diabetes (T2D) were identified through GWAS, and the majority of studies were predominantly conducted in European populations. Despite the shared nature of the majority of genetic susceptibility loci across diverse ethnic populations, GWAS in non-European populations, including Japanese and East Asian populations, have revealed population-specific T2D loci. Currently, polygenic risk scores (PRSs), encompassing millions of associated variants, can identify individuals with a higher T2D risk than the general population. However, GWAS focusing on microvascular complications of diabetes have identified a limited number of disease-susceptibility loci. Ongoing efforts are crucial to enhance the applicability of PRS for all ethnic groups and unravel the genetic architecture of microvascular complications of diabetes.
引用
收藏
页码:699 / 706
页数:8
相关论文
共 77 条
[1]   Heritability and familiality of type 2 diabetes and related quantitative traits in the Botnia Study [J].
Almgren, P. ;
Lehtovirta, M. ;
Isomaa, B. ;
Sarelin, L. ;
Taskinen, M. R. ;
Lyssenko, V. ;
Tuomi, T. ;
Groop, L. .
DIABETOLOGIA, 2011, 54 (11) :2811-2819
[2]   Heritability of the severity of diabetic retinopathy: The FIND-Eye study [J].
Arar, Nedal H. ;
Freedman, Barry I. ;
Adler, Sharon G. ;
Iyengar, Sudha K. ;
Chew, Emily Y. ;
Davis, Mathew D. ;
Satko, Scott G. ;
Bowden, Donald W. ;
Duggirala, Ravi ;
Elston, Robert C. ;
Guo, Xiuxing ;
Hanson, Robert L. ;
Igo, Robert P., Jr. ;
Ipp, Eli ;
Kimmel, Paul L. ;
Knowler, William C. ;
Molineros, Julio ;
Nelson, Robert G. ;
Pahl, Madeleine V. ;
Quade, Shannon R. E. ;
Rasooly, Rebekah S. ;
Rotter, Jerome I. ;
Saad, Mohammed F. ;
Scavini, Marina ;
Schelling, Jeffrey R. ;
Sedor, John R. ;
Shah, Vallabh O. ;
Zager, Philip G. ;
Abboud, Hanna E. .
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2008, 49 (09) :3839-3845
[3]   Bridging the diversity gap: Analytical and study design considerations for improving the accuracy of trans-ancestry genetic prediction [J].
Bocher, Ozvan ;
Gilly, Arthur ;
Park, Young-Chan ;
Zeggini, Eleftheria ;
Morris, Andrew P. .
HUMAN GENETICS AND GENOMICS ADVANCES, 2023, 4 (03)
[4]   Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene [J].
Burdon, Kathryn P. ;
Fogarty, Rhys D. ;
Shen, Weiyong ;
Abhary, Sotoodeh ;
Kaidonis, Georgia ;
Appukuttan, Binoy ;
Hewitt, Alex W. ;
Sharma, Shiwani ;
Daniell, Mark ;
Essex, Rohan W. ;
Chang, John H. ;
Klebe, Sonja ;
Lake, Stewart R. ;
Pal, Bishwanath ;
Jenkins, Alicia ;
Govindarjan, Gowthaman ;
Sundaresan, Periasamy ;
Lamoureux, Ecosse L. ;
Ramasamy, Kim ;
Pefkianaki, Maria ;
Hykin, Philip G. ;
Petrovsky, Nikolai ;
Brown, Matthew A. ;
Gillies, Mark C. ;
Craig, Jamie E. .
DIABETOLOGIA, 2015, 58 (10) :2288-2297
[5]   Diabetes in Asia Epidemiology, Risk Factors, and Pathophysiology [J].
Chan, Juliana C. N. ;
Malik, Vasanti ;
Jia, Weiping ;
Kadowaki, Takashi ;
Yajnik, Chittaranjan S. ;
Yoon, Kun-Ho ;
Hu, Frank B. .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2009, 301 (20) :2129-2140
[6]   Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies [J].
Chatterjee, Nilanjan ;
Wheeler, Bill ;
Sampson, Joshua ;
Hartge, Patricia ;
Chanock, Stephen J. ;
Park, Ju-Hyun .
NATURE GENETICS, 2013, 45 (04) :400-405
[7]   Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians [J].
Cho, Yoon Shin ;
Chen, Chien-Hsiun ;
Hu, Cheng ;
Long, Jirong ;
Ong, Rick Twee Hee ;
Sim, Xueling ;
Takeuchi, Fumihiko ;
Wu, Ying ;
Go, Min Jin ;
Yamauchi, Toshimasa ;
Chang, Yi-Cheng ;
Kwak, Soo Heon ;
Ma, Ronald C. W. ;
Yamamoto, Ken ;
Adair, Linda S. ;
Aung, Tin ;
Cai, Qiuyin ;
Chang, Li-Ching ;
Chen, Yuan-Tsong ;
Gao, Yutang ;
Hu, Frank B. ;
Kim, Hyung-Lae ;
Kim, Sangsoo ;
Kim, Young Jin ;
Lee, Jeannette Jen-Mai ;
Lee, Nanette R. ;
Li, Yun ;
Liu, Jian Jun ;
Lu, Wei ;
Nakamura, Jiro ;
Nakashima, Eitaro ;
Ng, Daniel Peng-Keat ;
Tay, Wan Ting ;
Tsai, Fuu-Jen ;
Wong, Tien Yin ;
Yokota, Mitsuhiro ;
Zheng, Wei ;
Zhang, Rong ;
Wang, Congrong ;
So, Wing Yee ;
Ohnaka, Keizo ;
Ikegami, Hiroshi ;
Hara, Kazuo ;
Cho, Young Min ;
Cho, Nam H. ;
Chang, Tien-Jyun ;
Bao, Yuqian ;
Hedman, Asa K. ;
Morris, Andrew P. ;
McCarthy, Mark I. .
NATURE GENETICS, 2012, 44 (01) :67-U97
[8]   Genetics of diabetes mellitus and diabetes complications [J].
Cole, Joanne B. ;
Florez, Jose C. .
NATURE REVIEWS NEPHROLOGY, 2020, 16 (07) :377-390
[9]  
diabetesatlas, IDF ATLAS
[10]   New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk [J].
Dupuis, Josee ;
Langenberg, Claudia ;
Prokopenko, Inga ;
Saxena, Richa ;
Soranzo, Nicole ;
Jackson, Anne U. ;
Wheeler, Eleanor ;
Glazer, Nicole L. ;
Bouatia-Naji, Nabila ;
Gloyn, Anna L. ;
Lindgren, Cecilia M. ;
Magi, Reedik ;
Morris, Andrew P. ;
Randall, Joshua ;
Johnson, Toby ;
Elliott, Paul ;
Rybin, Denis ;
Thorleifsson, Gudmar ;
Steinthorsdottir, Valgerdur ;
Henneman, Peter ;
Grallert, Harald ;
Dehghan, Abbas ;
Hottenga, Jouke Jan ;
Franklin, Christopher S. ;
Navarro, Pau ;
Song, Kijoung ;
Goel, Anuj ;
Perry, John R. B. ;
Egan, Josephine M. ;
Lajunen, Taina ;
Grarup, Niels ;
Sparso, Thomas ;
Doney, Alex ;
Voight, Benjamin F. ;
Stringham, Heather M. ;
Li, Man ;
Kanoni, Stavroula ;
Shrader, Peter ;
Cavalcanti-Proenca, Christine ;
Kumari, Meena ;
Qi, Lu ;
Timpson, Nicholas J. ;
Gieger, Christian ;
Zabena, Carina ;
Rocheleau, Ghislain ;
Ingelsson, Erik ;
An, Ping ;
O'Connell, Jeffrey ;
Luan, Jian'an ;
Elliott, Amanda .
NATURE GENETICS, 2010, 42 (02) :105-U32