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No evidence of association of the PDCD1 gene with Type 1 diabetes

Fawwaz, S. ; Nikamo, P. ; Törn, Carina LU ; Landin-Olsson, Mona LU ; Lernmark, Åke LU orcid ; Alarcon-Riquelme, M. and Kockum, I. (2007) In Diabetic Medicine 24(12). p.1473-1477
Abstract
Aims To test the association between the immunoreceptor PD-1 (PDCD1) gene and Type 1 diabetes mellitus (T1DM). This gene has been reported to be associated with other autoimmune diseases such as systemic lupus erythematosus (SLE) as well as T1DM. Methods Genotyping of single nucleotide polymorphisms (SNPs) in the PDCD1 gene was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), pyrosequencing and TaqMan in two separate cohorts of Swedish patients and control subjects: a family study consisting of 184 multiplex and eight simplex families and a case-control study consisting of 586 patients and 836 control subjects. Three SNPs were genotyped: PD-1 7146, PD-1 7785 and PD-1 8738. Results We did not... (More)
Aims To test the association between the immunoreceptor PD-1 (PDCD1) gene and Type 1 diabetes mellitus (T1DM). This gene has been reported to be associated with other autoimmune diseases such as systemic lupus erythematosus (SLE) as well as T1DM. Methods Genotyping of single nucleotide polymorphisms (SNPs) in the PDCD1 gene was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), pyrosequencing and TaqMan in two separate cohorts of Swedish patients and control subjects: a family study consisting of 184 multiplex and eight simplex families and a case-control study consisting of 586 patients and 836 control subjects. Three SNPs were genotyped: PD-1 7146, PD-1 7785 and PD-1 8738. Results We did not detect any association or linkage between SNPs in PDCD1 and T1DM. We further performed a meta-analysis for association of PD-1 7146, PD-1 7785 and PD-1 8738 to T1DM. We detected heterogeneity in association with weak evidence for overall association. Conclusions We conclude that PDCD1 is unlikely to be a major susceptibility gene for T1DM. (Less)
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author
; ; ; ; ; and
author collaboration
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Type 1 diabetes, PDCD1, association, autoimmunity
in
Diabetic Medicine
volume
24
issue
12
pages
1473 - 1477
publisher
Wiley-Blackwell
external identifiers
  • wos:000251250200026
  • scopus:36549074537
ISSN
1464-5491
DOI
10.1111/j.1464-5491.2007.02297.x
language
English
LU publication?
no
id
615ce61a-1028-4abe-a05f-2300ba4139b6 (old id 968906)
date added to LUP
2016-04-01 16:30:15
date last changed
2024-01-26 07:06:32
@article{615ce61a-1028-4abe-a05f-2300ba4139b6,
  abstract     = {{Aims To test the association between the immunoreceptor PD-1 (PDCD1) gene and Type 1 diabetes mellitus (T1DM). This gene has been reported to be associated with other autoimmune diseases such as systemic lupus erythematosus (SLE) as well as T1DM. Methods Genotyping of single nucleotide polymorphisms (SNPs) in the PDCD1 gene was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), pyrosequencing and TaqMan in two separate cohorts of Swedish patients and control subjects: a family study consisting of 184 multiplex and eight simplex families and a case-control study consisting of 586 patients and 836 control subjects. Three SNPs were genotyped: PD-1 7146, PD-1 7785 and PD-1 8738. Results We did not detect any association or linkage between SNPs in PDCD1 and T1DM. We further performed a meta-analysis for association of PD-1 7146, PD-1 7785 and PD-1 8738 to T1DM. We detected heterogeneity in association with weak evidence for overall association. Conclusions We conclude that PDCD1 is unlikely to be a major susceptibility gene for T1DM.}},
  author       = {{Fawwaz, S. and Nikamo, P. and Törn, Carina and Landin-Olsson, Mona and Lernmark, Åke and Alarcon-Riquelme, M. and Kockum, I.}},
  issn         = {{1464-5491}},
  keywords     = {{Type 1 diabetes; PDCD1; association; autoimmunity}},
  language     = {{eng}},
  number       = {{12}},
  pages        = {{1473--1477}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{Diabetic Medicine}},
  title        = {{No evidence of association of the PDCD1 gene with Type 1 diabetes}},
  url          = {{http://dx.doi.org/10.1111/j.1464-5491.2007.02297.x}},
  doi          = {{10.1111/j.1464-5491.2007.02297.x}},
  volume       = {{24}},
  year         = {{2007}},
}