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Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people

Florez, J C; Agapakis, C M; Burtt, N P; Sun, M; Almgren, Peter LU ; Råstam, Lennart LU ; Tuomi, T; Gaudet, D; Hudson, T J and Daly, M J, et al. (2005) In Diabetes 54(6). p.1884-1891
Abstract
Protein tyrosine phosphatase (PTP)-1B, encoded by the PTPN1 gene, inactivates the insulin signal transduction cascade by dephosphorylating phosphotyrosine residues in insulin signaling molecules. Due to its chromosomal location under a chromosome 20 linkage peak and the metabolic effects of its absence in knockout mice, it is a candidate gene for type 2 diabetes. Recent studies have associated common sequence variants in PTPN1 with type 2 diabetes and diabetes-related phenotypes. We sought to replicate the association of common single nucleotide polymorphisms (SNPs) and haplotypes in PTPN1 with type 2 diabetes, fasting plasma glucose, and insulin sensitivity in a large collection of subjects. We assessed linkage disequilibrium, selected... (More)
Protein tyrosine phosphatase (PTP)-1B, encoded by the PTPN1 gene, inactivates the insulin signal transduction cascade by dephosphorylating phosphotyrosine residues in insulin signaling molecules. Due to its chromosomal location under a chromosome 20 linkage peak and the metabolic effects of its absence in knockout mice, it is a candidate gene for type 2 diabetes. Recent studies have associated common sequence variants in PTPN1 with type 2 diabetes and diabetes-related phenotypes. We sought to replicate the association of common single nucleotide polymorphisms (SNPs) and haplotypes in PTPN1 with type 2 diabetes, fasting plasma glucose, and insulin sensitivity in a large collection of subjects. We assessed linkage disequilibrium, selected tag SNPs, and typed these markers in 3,347 cases of type 2 diabetes and 3,347 control subjects as well as 1,189 siblings discordant for type 2 diabetes. Despite power estimated at > 95% to replicate the previously reported associations, no statistically significant evidence of association was observed between PTPN1 SNPs or common haplotypes with type 2 diabetes or with diabetic phenotypes. (Less)
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type
Contribution to journal
publication status
published
subject
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Diabetes
volume
54
issue
6
pages
1884 - 1891
publisher
American Diabetes Association Inc.
external identifiers
  • wos:000229499600033
  • pmid:15919813
  • scopus:20044376516
ISSN
1939-327X
language
English
LU publication?
yes
id
98218017-ea28-4b8e-a9b5-38b646de0516 (old id 238768)
alternative location
http://diabetes.diabetesjournals.org/cgi/content/full/54/6/1884
date added to LUP
2007-08-02 15:56:20
date last changed
2017-01-01 06:48:42
@article{98218017-ea28-4b8e-a9b5-38b646de0516,
  abstract     = {Protein tyrosine phosphatase (PTP)-1B, encoded by the PTPN1 gene, inactivates the insulin signal transduction cascade by dephosphorylating phosphotyrosine residues in insulin signaling molecules. Due to its chromosomal location under a chromosome 20 linkage peak and the metabolic effects of its absence in knockout mice, it is a candidate gene for type 2 diabetes. Recent studies have associated common sequence variants in PTPN1 with type 2 diabetes and diabetes-related phenotypes. We sought to replicate the association of common single nucleotide polymorphisms (SNPs) and haplotypes in PTPN1 with type 2 diabetes, fasting plasma glucose, and insulin sensitivity in a large collection of subjects. We assessed linkage disequilibrium, selected tag SNPs, and typed these markers in 3,347 cases of type 2 diabetes and 3,347 control subjects as well as 1,189 siblings discordant for type 2 diabetes. Despite power estimated at > 95% to replicate the previously reported associations, no statistically significant evidence of association was observed between PTPN1 SNPs or common haplotypes with type 2 diabetes or with diabetic phenotypes.},
  author       = {Florez, J C and Agapakis, C M and Burtt, N P and Sun, M and Almgren, Peter and Råstam, Lennart and Tuomi, T and Gaudet, D and Hudson, T J and Daly, M J and Ardlie, K G and Hirschhorn, J N and Groop, Leif and Altshuler, B},
  issn         = {1939-327X},
  language     = {eng},
  number       = {6},
  pages        = {1884--1891},
  publisher    = {American Diabetes Association Inc.},
  series       = {Diabetes},
  title        = {Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people},
  volume       = {54},
  year         = {2005},
}