The insulin gene in diabetes

被引:65
作者
Pugliese, A [1 ]
Miceli, D [1 ]
机构
[1] Univ Miami, Sch Med, Diabet Res Inst, Miami, FL 33136 USA
关键词
insulin; INS; VNTR; IDDM2; IDDM; type I diabetes; NIDDM; type; 2; diabetes; MODY; transcription factors; imprinting;
D O I
10.1002/dmrr.261
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Lack of insulin production or abnormalities affecting insulin secretion are key to the development of almost all forms of diabetes, including the common type I (insulin-dependent) and type 2 (non-insulin-dependent) diabetes and the more rare forms of maturity-onset diabetes of the young (MODY). Because insulin has such a central role in the pathogenesis of both forms of diabetes, the insulin gene (INS) has always been considered a candidate susceptibility gene. A number of studies have shown that the allelic variation and parent-of-origin effects affect the transmission and expression of the insulin gene in pancreatic beta-cells and extra-pancreatic tissues. These observations have led to the formulation of new hypotheses to explain the biological mechanisms by which functional differences in the expression of the insulin gene may contribute to diabetes susceptibility. Copyright (C) 2002 John Wiley Sons, Ltd.
引用
收藏
页码:13 / 25
页数:13
相关论文
共 148 条
[1]   INS VNTR allelic variation and dynamic insulin secretion in healthy adult non-diabetic Caucasian subjects [J].
Ahmed, S ;
Bennett, ST ;
Huxtable, SJ ;
Todd, JA ;
Matthews, DR ;
Gough, SCL .
DIABETIC MEDICINE, 1999, 16 (11) :910-917
[2]   A disease-associated cellular immune response in type 1 diabetics to an immunodominant epitope of insulin [J].
Alleva, DG ;
Crowe, PD ;
Jin, LP ;
Kwok, WW ;
Ling, N ;
Gottschalk, M ;
Conlon, PJ ;
Gottlieb, PA ;
Putnam, AL ;
Gaur, A .
JOURNAL OF CLINICAL INVESTIGATION, 2001, 107 (02) :173-180
[3]   EVIDENCE FOR A DIFFERENTIAL AVIDITY MODEL OF T-CELL SELECTION IN THE THYMUS [J].
ASHTONRICKARDT, PG ;
BANDEIRA, A ;
DELANEY, JR ;
VANKAER, L ;
PIRCHER, HP ;
ZINKERNAGEL, RM ;
TONEGAWA, S .
CELL, 1994, 76 (04) :651-663
[4]   INSULIN GENE REGION-ENCODED SUSCEPTIBILITY TO TYPE-1 DIABETES IS NOT RESTRICTED TO HLA-DR4-POSITIVE INDIVIDUALS [J].
BAIN, SC ;
PRINS, JB ;
HEARNE, CM ;
RODRIGUES, NR ;
ROWE, BR ;
PRITCHARD, LE ;
RITCHIE, RJ ;
HALL, JRS ;
UNDLIEN, DE ;
RONNINGEN, KS ;
DUNGER, DB ;
BARNETT, AH ;
TODD, JA .
NATURE GENETICS, 1992, 2 (03) :212-215
[5]  
BELL GI, 1980, NATURE, V284, P26, DOI 10.1038/284026a0
[6]   THE HIGHLY POLYMORPHIC REGION NEAR THE HUMAN INSULIN GENE IS COMPOSED OF SIMPLE TANDEMLY REPEATING SEQUENCES [J].
BELL, GI ;
SELBY, MJ ;
RUTTER, WJ .
NATURE, 1982, 295 (5844) :31-35
[7]   A POLYMORPHIC LOCUS NEAR THE HUMAN INSULIN GENE IS ASSOCIATED WITH INSULIN-DEPENDENT DIABETES-MELLITUS [J].
BELL, GI ;
HORITA, S ;
KARAM, JH .
DIABETES, 1984, 33 (02) :176-183
[8]   IDDM2-VNTR-encoded susceptibility to type 1 diabetes: Dominant protection and parental transmission of alleles of the insulin gene-linked minisatellite locus [J].
Bennett, ST ;
Wilson, AJ ;
Cucca, F ;
Nerup, J ;
Pociot, F ;
McKinney, PA ;
Barnett, AH ;
Bain, SC ;
Todd, JA .
JOURNAL OF AUTOIMMUNITY, 1996, 9 (03) :415-421
[9]   SUSCEPTIBILITY TO HUMAN TYPE-1 DIABETES AT IDDM2 IS DETERMINED BY TANDEM REPEAT VARIATION AT THE INSULIN GENE MINISATELLITE LOCUS [J].
BENNETT, ST ;
LUCASSEN, AM ;
GOUGH, SCL ;
POWELL, EE ;
UNDLIEN, DE ;
PRITCHARD, LE ;
MERRIMAN, ME ;
KAWAGUCHI, Y ;
DRONSFIELD, MJ ;
POCIOT, F ;
NERUP, J ;
BOUZEKRI, N ;
CAMBONTHOMSEN, A ;
RONNINGEN, KS ;
BARNETT, AH ;
BAIN, SC ;
TODD, JA .
NATURE GENETICS, 1995, 9 (03) :284-292
[10]   Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal allele [J].
Bennett, ST ;
Wilson, AJ ;
Esposito, L ;
Bouzekri, N ;
Undlien, DE ;
Cucca, F ;
Nistico, L ;
Buzzetti, R ;
Bosi, E ;
Pociot, F ;
Nerup, J ;
CambonThomsen, A ;
Pugliese, A ;
Shield, JPH ;
McKinney, PA ;
Bain, SC ;
Polychronakos, C ;
Todd, JA ;
Pozzilli, P ;
Visalli, N ;
Baroni, M ;
Fioriti, E ;
Mesturino, C ;
Signore, A ;
Cavallo, M ;
Lucentini, L ;
Matteoli, M ;
Crino, A ;
Teodonio, C ;
Amoretti, R ;
Tombesi, A ;
Ruggeri, M ;
Pisano, L ;
Suraci, C ;
Pennafina, M ;
Boscherini, B ;
Stoduto, S ;
Fonte, M ;
Mancabitti, M ;
Multari, G ;
Suppa, M ;
DeMattia, G ;
Faldetta, MC ;
Laurenti, O ;
Marietti, G ;
Pitocco, D ;
Ferrazzoli, F ;
Bizzarri, C ;
Ghirlanda, G .
NATURE GENETICS, 1997, 17 (03) :350-352