Polymorphisms in type II SH2 domain-containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndrome.

Type II SH2 domain-containing inositol 5-phosphatase (INPPL1, or SHIP2) plays an important role in the control of insulin sensitivity. INPPL1 mutations affecting gene function have been found in rat models of type 2 diabetes and hypertension and in type 2 diabetic patients. We investigated the influ...

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Main Authors: Kaisaki, P, Delépine, M, Woon, P, Sebag-Montefiore, L, Wilder, S, Menzel, S, Vionnet, N, Marion, E, Riveline, J, Charpentier, G, Schurmans, S, Levy, J, Lathrop, M, Farrall, M, Gauguier, D
Format: Journal article
Language:English
Published: 2004
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author Kaisaki, P
Delépine, M
Woon, P
Sebag-Montefiore, L
Wilder, S
Menzel, S
Vionnet, N
Marion, E
Riveline, J
Charpentier, G
Schurmans, S
Levy, J
Lathrop, M
Farrall, M
Gauguier, D
author_facet Kaisaki, P
Delépine, M
Woon, P
Sebag-Montefiore, L
Wilder, S
Menzel, S
Vionnet, N
Marion, E
Riveline, J
Charpentier, G
Schurmans, S
Levy, J
Lathrop, M
Farrall, M
Gauguier, D
author_sort Kaisaki, P
collection OXFORD
description Type II SH2 domain-containing inositol 5-phosphatase (INPPL1, or SHIP2) plays an important role in the control of insulin sensitivity. INPPL1 mutations affecting gene function have been found in rat models of type 2 diabetes and hypertension and in type 2 diabetic patients. We investigated the influence of nucleotide variation in INPPL1 on components of the metabolic syndrome. Following comprehensive resequencing of the gene, we genotyped 12 informative polymorphisms in 1,304 individuals from 424 British type 2 diabetes families that were characterized for several metabolic phenotypes. We have found highly significant associations of single nucleotide polymorphisms (SNPs) and haplotypes of INPPL1 with hypertension as well as with other components of the metabolic syndrome. In a cohort of 905 French type 2 diabetic patients, we found evidence of association of INPPL1 SNPs with the presence of hypertension. We conclude that INPPL1 variants may impact susceptibility to disease and/or to subphenotypes involved in the metabolic syndrome in some diabetic patients.
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spelling oxford-uuid:3baf77b8-5d2e-426a-8394-e84f29b8ca792022-03-26T14:09:04ZPolymorphisms in type II SH2 domain-containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndrome.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:3baf77b8-5d2e-426a-8394-e84f29b8ca79EnglishSymplectic Elements at Oxford2004Kaisaki, PDelépine, MWoon, PSebag-Montefiore, LWilder, SMenzel, SVionnet, NMarion, ERiveline, JCharpentier, GSchurmans, SLevy, JLathrop, MFarrall, MGauguier, DType II SH2 domain-containing inositol 5-phosphatase (INPPL1, or SHIP2) plays an important role in the control of insulin sensitivity. INPPL1 mutations affecting gene function have been found in rat models of type 2 diabetes and hypertension and in type 2 diabetic patients. We investigated the influence of nucleotide variation in INPPL1 on components of the metabolic syndrome. Following comprehensive resequencing of the gene, we genotyped 12 informative polymorphisms in 1,304 individuals from 424 British type 2 diabetes families that were characterized for several metabolic phenotypes. We have found highly significant associations of single nucleotide polymorphisms (SNPs) and haplotypes of INPPL1 with hypertension as well as with other components of the metabolic syndrome. In a cohort of 905 French type 2 diabetic patients, we found evidence of association of INPPL1 SNPs with the presence of hypertension. We conclude that INPPL1 variants may impact susceptibility to disease and/or to subphenotypes involved in the metabolic syndrome in some diabetic patients.
spellingShingle Kaisaki, P
Delépine, M
Woon, P
Sebag-Montefiore, L
Wilder, S
Menzel, S
Vionnet, N
Marion, E
Riveline, J
Charpentier, G
Schurmans, S
Levy, J
Lathrop, M
Farrall, M
Gauguier, D
Polymorphisms in type II SH2 domain-containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndrome.
title Polymorphisms in type II SH2 domain-containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndrome.
title_full Polymorphisms in type II SH2 domain-containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndrome.
title_fullStr Polymorphisms in type II SH2 domain-containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndrome.
title_full_unstemmed Polymorphisms in type II SH2 domain-containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndrome.
title_short Polymorphisms in type II SH2 domain-containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndrome.
title_sort polymorphisms in type ii sh2 domain containing inositol 5 phosphatase inppl1 ship2 are associated with physiological abnormalities of the metabolic syndrome
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