A functional variant of IRS1 is associated with type 1 diabetes in families from the US and UK

Molecular Genetics and Metabolism

Volumn 81, Issue 4, 2004, Pages 291-294

  Morrison, V Anne ^a,b   Onengut Gumuscu, Suna ^a,b   Concannon, Patrick ^a,b  

^a BENAROYA RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

INSULIN RECEPTOR SUBSTRATE 1;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CHROMOSOME 8; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; PEDIGREE; PRIORITY JOURNAL; PROGENY; UNITED KINGDOM; UNITED STATES;

ADOLESCENT; ADULT; AGE OF ONSET; ALLELES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DIABETES MELLITUS, TYPE 1; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GREAT BRITAIN; HUMANS; INFANT; LINKAGE (GENETICS); LOD SCORE; MALE; PHOSPHOPROTEINS; UNITED STATES; VARIATION (GENETICS);

EID: 1842418727     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2003.10.018     Document Type: Article

References (19)

1. Hyttinen V., Kaprio J., Kinnunen L., Koskenvuo M., Tuomilehto J. Genetic liability of type 1 diabetes and the onset age among 22,650 young Finnish twin pairs: a nationwide follow-up study. Diabetes. 52:2003;1052-1055.
2. Thomson G., Robinson W.P., Kuhner M.K., Joe S., MacDonald M.J., Gottschall J.L., Barbosa J., Rich S.S., Bertrams J., Baur M.P. Genetic heterogeneity, modes of inheritance, and risk estimates for a joint study of caucasians with insulin-dependent diabetes mellitus. Am. J. Hum. Genet. 43:1988;799-816.
3. Jellema A., Zeegers M.P., Feskens E.J., Dagnelie P.C., Mensink R.P. Gly972Arg variant in the insulin receptor substrate-1 gene and association with Type 2 diabetes: a meta-analysis of 27 studies. Diabetologia. 46:2003;990-995.
4. Federici M., Petrone A., Porzio O., Bizzarri C., Lauro D., D'Alfonso R., Patera I., Cappa M., Nistico L., Baroni M., Sesti G., Di Mario U., Lauro R., Buzzetti R. The Gly972. → Arg IRS-1 variant is associated with type 1 diabetes in continental Italy Diabetes. 52:2003;887-890.
5. Marchetti P., Lupi R., Federici M., Marselli L., Masini M., Boggi U., Del Guerra S., Patane G., Piro S., Anello M., Bergamini E., Purrello F., Lauro R., Mosca F., Sesti G., Del Prato S. Insulin secretory function is impaired in isolated human islets carrying the Gly(972). → Arg IRS-1 polymorphism Diabetes. 51:2002;1419-1424.
6. Stumvoll M., Fritsche A., Volk A., Stefan N., Madaus A., Maerker E., Teigeler A., Koch M., Machicao F., Haring H. The Gly972Arg polymorphism in the insulin receptor substrate-1 gene contributes to the variation in insulin secretion in normal glucose-tolerant humans. Diabetes. 50:2001;882-885.
7. Porzio O., Federici M., Hribal M.L., Lauro D., Accili D., Lauro R., Borboni P., Sesti G. The Gly972. → Arg amino acid polymorphism in IRS-1 impairs insulin secretion in pancreatic beta cells J. Clin. Invest. 104:1999;357-364.
8. Cox N.J., Wapelhorst B., Morrison V.A., Johnson L., Pinchuk L., Spielman R.S., Todd J.A., Concannon P. Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. Am. J. Hum. Genet. 69:2001;820-830.
9. Orita M., Iwahana H., Kanazawa H., Hayashi K., Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA. 86:1989;2766-2770.
10. Kong A., Cox N.J. Allele-sharing models: LOD scores and accurate linkage tests. Am. J. Hum. Genet. 61:1997;1179-1188.
11. Martin E.R., Monks S.A., Warren L.L., Kaplan N.L. A test for linkage and association in general pedigrees: the pedigree disequilibrium test. Am. J. Hum. Genet. 67:2000;146-154.
12. Spielman R.S., McGinnis R.E., Ewens W.J. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus. Am. J. Hum. Genet. 52:1993;506-516.
13. Federici M., Hribal M.L., Ranalli M., Marselli L., Porzio O., Lauro D., Borboni P., Lauro R., Marchetti P., Melino G., Sesti G. The common Arg972 polymorphism in insulin receptor substrate-1 causes apoptosis of human pancreatic islets. FASEB J. 15:2001;22-24.
14. Johnston J.A., Wang L.M., Hanson E.P., Sun X.J., White M.F., Oakes S.A., Pierce J.H., O'Shea J.J. Interleukins 2, 4, 7, and 15 stimulate tyrosine phosphorylation of insulin receptor substrates 1 and 2 in T cells. Potential role of JAK kinases. J. Biol. Chem. 270:1995;28527-28530.
15. Sharfe N., Roifman C.M. Differential association of phosphatidylinositol 3-kinase with insulin receptor substrate (IRS)-1 and IRS-2 in human thymocytes in response to IL-7. J. Immunol. 159:1997;1107-1114.
16. Araki E., Lipes M.A., Patti M.E., Bruning J.C., Haag III B., Johnson R.S., Kahn C.R. Alternative pathway of insulin signalling in mice with targeted disruption of the IRS-1 gene. Nature. 372:1994;186-190.
17. Li L., Qi X., Williams M., Shi Y., Keegan A.D. Overexpression of insulin receptor substrate-1, but not insulin receptor substrate-2, protects a T cell hybridoma from activation-induced cell death. J. Immunol. 168:2002;6215-6223.
18. Ho I.C., Glimcher L.H. Transcription: tantalizing times for T cells. Cell. 109(Suppl.):2002;S109-S120.
19. Rich S.S., Concannon P. Challenges and strategies for investigating the genetic complexity of common human diseases. Diabetes. 51(Suppl. 3):2002;S288-S294.