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Characterization of the annexin I gene and evaluation of its role in type 2 diabetes

Lindgren, Cecilia M.; Ramelius, Anita LU ; Orho-Melander, Marju LU ; Almgren, Peter LU and Groop, Leif LU (2001) In Diabetes 50(10). p.2402-2405
Abstract
In a previous study, we identified suggestive linkage between type 2 diabetes and a locus on chromosome 9p13-q21. This region contains the gene annexin I (ANXA1), encoding a protein suggested to be involved in both insulin secretion and insulin action. In this study, we sequenced the exon/intron boundaries of the human ANXA1 gene and performed mutation screening in 41 individuals from the initial linkage study. We identified five single nucleotide polymorphisms A58G, A401G, intronic variance sequence (IVS)8-28A/G, IVS11 +31A/G, and IVS12-11T/G, which were further tested for association to diabetes in 197 parent/offspring trios using the transmission disequilibrium test. No significant association with type 2 diabetes was observed, although... (More)
In a previous study, we identified suggestive linkage between type 2 diabetes and a locus on chromosome 9p13-q21. This region contains the gene annexin I (ANXA1), encoding a protein suggested to be involved in both insulin secretion and insulin action. In this study, we sequenced the exon/intron boundaries of the human ANXA1 gene and performed mutation screening in 41 individuals from the initial linkage study. We identified five single nucleotide polymorphisms A58G, A401G, intronic variance sequence (IVS)8-28A/G, IVS11 +31A/G, and IVS12-11T/G, which were further tested for association to diabetes in 197 parent/offspring trios using the transmission disequilibrium test. No significant association with type 2 diabetes was observed, although the common A allele of the +58A/G variant gave a 22:12 transmission distortion (P = 0.12). This variant was further genotyped in 481 case and control subjects, but no difference in allele, genotype, or haplotype frequencies were observed between the groups. Further, a novel polymorphic (CA)(15-25) repeat in intron 11 was genotyped in the subjects included in the initial linkage study. No improvement of the original finding was observed. We therefore concluded that the ANXA1 gene is unlikely to harbor variants that contribute to risk of type 2 diabetes. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Diabetes
volume
50
issue
10
pages
2402 - 2405
publisher
American Diabetes Association Inc.
external identifiers
  • pmid:11574426
  • scopus:0035488779
ISSN
1939-327X
DOI
10.2337/diabetes.50.10.2402
language
English
LU publication?
yes
id
eb67c041-a007-47c1-b14c-edab84e808f0 (old id 1122541)
date added to LUP
2008-07-03 13:13:20
date last changed
2018-05-29 11:11:50
@article{eb67c041-a007-47c1-b14c-edab84e808f0,
  abstract     = {In a previous study, we identified suggestive linkage between type 2 diabetes and a locus on chromosome 9p13-q21. This region contains the gene annexin I (ANXA1), encoding a protein suggested to be involved in both insulin secretion and insulin action. In this study, we sequenced the exon/intron boundaries of the human ANXA1 gene and performed mutation screening in 41 individuals from the initial linkage study. We identified five single nucleotide polymorphisms A58G, A401G, intronic variance sequence (IVS)8-28A/G, IVS11 +31A/G, and IVS12-11T/G, which were further tested for association to diabetes in 197 parent/offspring trios using the transmission disequilibrium test. No significant association with type 2 diabetes was observed, although the common A allele of the +58A/G variant gave a 22:12 transmission distortion (P = 0.12). This variant was further genotyped in 481 case and control subjects, but no difference in allele, genotype, or haplotype frequencies were observed between the groups. Further, a novel polymorphic (CA)(15-25) repeat in intron 11 was genotyped in the subjects included in the initial linkage study. No improvement of the original finding was observed. We therefore concluded that the ANXA1 gene is unlikely to harbor variants that contribute to risk of type 2 diabetes.},
  author       = {Lindgren, Cecilia M. and Ramelius, Anita and Orho-Melander, Marju and Almgren, Peter and Groop, Leif},
  issn         = {1939-327X},
  language     = {eng},
  number       = {10},
  pages        = {2402--2405},
  publisher    = {American Diabetes Association Inc.},
  series       = {Diabetes},
  title        = {Characterization of the annexin I gene and evaluation of its role in type 2 diabetes},
  url          = {http://dx.doi.org/10.2337/diabetes.50.10.2402},
  volume       = {50},
  year         = {2001},
}