IPF-1 gene variation and the development of type 2 diabetes

被引：5

作者：

Silver, K ^{[1
]}

Shetty, A ^{[1
]}

机构：

[1] Univ Maryland, Sch Med, Div Endocrinol Diabet & Nutr, Baltimore, MD 21201 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2002年 / 75卷 / 03期

关键词：

yype; 2; diabetes; pancreas; genetics;

D O I：

10.1006/mgme.2001.3291

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Insulin promotor factor-1 (IPF-1) is a gene critical for pancreatic development and insulin transcription. We genotyped U.S. Caucasians with (n = 217) and without (n = 176) Type 2 diabetes to determine if three previously identified variants (Cys18Arg, Asp76Asn, Arg197His) in the IPF-1 gene play a role in the development of Type 2 diabetes. The Cys18Arg and Arg197His variants were not present in any subjects. The Asp76Asn variant was found in one control subject (0.9%) and none of the diabetic subjects. Similarly, none of the variants were detected in African American subjects with (n = 78) and without (n = 82) Type 2 diabetes. In conclusion, these variants are rare or absent in U.S. Caucasians and African Americans and therefore, unlikely to play a significant role in the development of Type 2 diabetes in these populations. (C) 2002 Elsevier Science (USA).

引用

页码：287 / 289

页数：3

共 11 条

[1]

Ahlgren U, 1996, DEVELOPMENT, V122, P1409

[2] β-cell-specific inactivation of the mouse Ipf1/Pdx1 gene results in loss of the β-cell phenotype and maturity onset diabetes [J].

Ahlgren, U ;

Jonsson, J ;

Jonsson, L ;

Simu, K ;

Edlund, H .

GENES & DEVELOPMENT, 1998, 12 (12) :1763-1768

[3] Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus [J].

Hani, EH ;

Stoffers, DA ;

Chèvre, JC ;

Durand, E ;

Stanojevic, V ;

Dina, C ;

Habener, JF ;

Froguel, P .

JOURNAL OF CLINICAL INVESTIGATION, 1999, 104 (09) :R41-R48

[4] Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in Caucasians [J].

Hansen, L ;

Urioste, S ;

Petersen, HV ;

Jensen, JN ;

Eiberg, H ;

Barbetti, F ;

Serup, P ;

Hansen, T ;

Pedersen, O .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2000, 85 (03) :1323-1326

[5] INSULIN-PROMOTER-FACTOR-1 IS REQUIRED FOR PANCREAS DEVELOPMENT IN MICE [J].

JONSSON, J ;

CARLSSON, L ;

EDLUND, T ;

EDLUND, H .

NATURE, 1994, 371 (6498) :606-609

[6] Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes [J].

Macfarlane, WM ;

Frayling, TM ;

Ellard, S ;

Evans, JC ;

Allen, LIS ;

Bulman, MP ;

Ayres, S ;

Shepherd, M ;

Clark, P ;

Millward, A ;

Demaine, A ;

Wilkin, T ;

Docherty, K ;

Hattersley, AT .

JOURNAL OF CLINICAL INVESTIGATION, 1999, 104 (09) :R33-R39

[7] TRANSCRIPTIONAL REGULATION OF THE HUMAN INSULIN GENE IS DEPENDENT ON THE HOMEODOMAIN PROTEIN STF1/IPF1 ACTING THROUGH THE CT BOXES [J].

PETERSEN, HV ;

SERUP, P ;

LEONARD, J ;

MICHELSEN, BK ;

MADSEN, OD .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (22) :10465-10469

[8] Mutations in the insulin promoter factor-1 gene in late-onset type 2 diabetes mellitus [J].

Reis, AF ;

Ye, WZ ;

Dubois-Laforgue, D ;

Bellanné-Chantelot, C ;

Timsit, J ;

Velho, G .

EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2000, 143 (04) :511-513

[9] THE HOMEODOMAIN PROTEIN IPF-1/STF-1 IS EXPRESSED IN A SUBSET OF ISLET CELLS AND PROMOTES RAT INSULIN-1 GENE-EXPRESSION DEPENDENT ON AN INTACT E1 HELIX-LOOP-HELIX FACTOR-BINDING SITE [J].

SERUP, P ;

PETERSEN, HV ;

PEDERSEN, EE ;

EDLUND, H ;

LEONARD, J ;

PETERSEN, JS ;

LARSSON, LI ;

MADSEN, OD .

BIOCHEMICAL JOURNAL, 1995, 310 :997-1003

[10] Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence [J].

Stoffers, DA ;

Zinkin, NT ;

Stanojevic, V ;

Clarke, WL ;

Habener, JF .

NATURE GENETICS, 1997, 15 (01) :106-110

← 1 2 →