A brief history of diabetes genetics: insights for pancreatic beta-cell development and function

被引：7
作者：
Ikle, Jennifer M. [1 ]
Gloyn, Anna L. [1 ,2 ]
机构：
[1] Stanford Univ, Dept Pediat, Div Endocrinol, Sch Med, Stanford, CA 94305 USA
[2] Stanford Univ, Stanford Diabet Res Ctr, Stanford, CA 94305 USA
来源：
JOURNAL OF ENDOCRINOLOGY | 2021年 / 250卷 / 03期
关键词：
diabetes; pancreas; genomics; b-cell development; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA; HEPATOCYTE NUCLEAR FACTOR-1-ALPHA; INSULIN PROMOTER FACTOR-1; ACTIVATING MUTATIONS; GLUCOKINASE GENE; INS GENE; KIR6.2; KCNJ11; GCK MUTATIONS; COMMON-CAUSE; YOUNG MODY;
D O I：
10.1530/JOE-21-0067
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Since the discovery of insulin 100 years ago, our knowledge and understanding of diabetes have grown exponentially. Specifically, with regards to the genetics underlying diabetes risk, our discoveries have paralleled developments in our understanding of the human genome and our ability to study genomics at scale; these advancements in genetics have both accompanied and led to those in diabetes treatment. This review will explore the timeline and history of gene discovery and how this has coincided with progress in the fields of genomics. Examples of genetic causes of monogenic diabetes are presented and the continuing expansion of allelic series in these genes and the challenges these now cause for diagnostic interpretation along with opportunities for patient stratification are discussed.
引用
收藏
页码：R23 / R35
页数：13
相关论文
共 123 条
  • [51] Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
    Gloyn, AL
    Pearson, ER
    Antcliff, JF
    Proks, P
    Bruining, GJ
    Slingerland, AS
    Howard, N
    Srinivasan, S
    Silva, JMCL
    Molnes, J
    Edghill, EL
    Frayling, TM
    Temple, IK
    Mackay, D
    Shield, JPH
    Sumnik, Z
    van Rhijn, A
    Wales, JKH
    Clark, P
    Gorman, S
    Aisenberg, J
    Ellard, S
    Njolstad, PR
    Ashcroft, FM
    Hattersley, AT
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2004, 350 (18) : 1838 - 1849
  • [52] Large-scale association studies of variants in genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes
    Gloyn, AL
    Weedon, MN
    Owen, KR
    Turner, MJ
    Knight, BA
    Hitman, G
    Walker, M
    Levy, JC
    Sampson, M
    Halford, S
    McCarthy, MI
    Hattersley, AT
    Frayling, TM
    [J]. DIABETES, 2003, 52 (02) : 568 - 572
  • [53] KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features
    Gloyn, Anna L.
    Diatloff-Zito, Catherine
    Edghill, Emma L.
    Bellanne-Chantelot, Christine
    Nivot, Sylvie
    Coutant, Regis
    Ellard, Sian
    Hattersley, Andrew T.
    Robert, Jean Jacques
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (07) : 824 - 830
  • [54] Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes
    Grant, SFA
    Thorleifsson, G
    Reynisdottir, I
    Benediktsson, R
    Manolescu, A
    Sainz, J
    Helgason, A
    Stefansson, H
    Emilsson, V
    Helgadottir, A
    Styrkarsdottir, U
    Magnusson, KP
    Walters, GB
    Palsdottir, E
    Jonsdottir, T
    Gudmundsdottir, T
    Gylfason, A
    Saemundsdottir, J
    Wilensky, RL
    Reilly, MP
    Rader, DJ
    Bagger, Y
    Christiansen, C
    Gudnason, V
    Sigurdsson, G
    Thorsteinsdottir, U
    Gulcher, JR
    Kong, A
    Stefansson, K
    [J]. NATURE GENETICS, 2006, 38 (03) : 320 - 323
  • [55] FAMILIAL HYPERPROINSULINEMIA DUE TO A PROPOSED DEFECT IN CONVERSION OF PROINSULIN TO INSULIN
    GRUPPUSO, PA
    GORDEN, P
    KAHN, CR
    CORNBLATH, M
    ZELLER, WP
    SCHWARTZ, R
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (10) : 629 - 634
  • [56] Messenger RNA transcripts of the hepatocyte nuclear factor-1α gene containing premature termination codons are subject to nonsense-mediated decay
    Harries, LW
    Hattersley, AT
    Ellard, S
    [J]. DIABETES, 2004, 53 (02) : 500 - 504
  • [57] ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents
    Hattersley, Andrew T.
    Greeley, Siri A. W.
    Polak, Michel
    Rubio-Cabezas, Oscar
    Njolstad, Pal R.
    Mlynarski, Wojciech
    Castano, Luis
    Carlsson, Annelie
    Raile, Klemens
    Chi, Dung V.
    Ellard, Sian
    Craig, Maria E.
    [J]. PEDIATRIC DIABETES, 2018, 19 : 47 - 63
  • [58] LINKAGE OF TYPE-2 DIABETES TO THE GLUCOKINASE GENE
    HATTERSLEY, AT
    TURNER, RC
    PERMUTT, MA
    PATEL, P
    TANIZAWA, Y
    CHIU, KC
    ORAHILLY, S
    WATKINS, PJ
    WAINSCOAT, JS
    [J]. LANCET, 1992, 339 (8805) : 1307 - 1310
  • [59] Misfolded Proinsulin Affects Bystander Proinsulin in Neonatal Diabetes
    Hodish, Israel
    Liu, Ming
    Rajpal, Gautam
    Larkin, Dennis
    Holz, Ronald W.
    Adams, Aaron
    Liu, Leanza
    Arvan, Peter
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2010, 285 (01) : 685 - 694
  • [60] Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY
    Horikawa, Y
    Iwasaki, N
    Hara, M
    Furuta, H
    Hinokio, Y
    Cockburn, BN
    Lindner, T
    Yamagata, K
    Ogata, M
    Tomonaga, O
    Kuroki, H
    Kasahara, T
    Iwamoto, Y
    Bell, GI
    [J]. NATURE GENETICS, 1997, 17 (04) : 384 - 385
12345678910