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

  • S. Fawwaz
  • P. Nikamo
  • Carina Törn
  • Mona Landin-Olsson
  • Åke Lernmark
  • M. Alarcon-Riquelme
  • I. Kockum
Publishing year: 2007
Language: English
Pages: 1473-1477
Publication/Series: Diabetic Medicine
Volume: 24
Issue: 12
Document type: Journal article
Publisher: Wiley-Blackwell

Abstract english

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.


  • Endocrinology and Diabetes
  • Type 1 diabetes
  • PDCD1
  • association
  • autoimmunity


  • ISSN: 1464-5491
E-mail: ake [dot] lernmark [at] med [dot] lu [dot] se

Principal investigator

Diabetes and Celiac Unit

+46 40 39 19 01

+46 70 616 47 79


Jan Waldenströms gata 35, Malmö


Lund University Diabetes Centre, CRC, SUS Malmö, Jan Waldenströms gata 35, House 91:12. SE-214 28 Malmö. Telephone: +46 40 39 10 00