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

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.

Nikamo, P.Karolinska Institutet (författare)
Törn, C. (författare)
Landin-Olsson, M. (författare)
Lernmark, A. (författare)
Alarcón-Riquelme, MartaUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)martaala (författare)
Kockum, I.Karolinska Institutet (författare)
Karolinska InstitutetInstitutionen för genetik och patologi (creator_code:org_t)

Av författaren/redakt...: Fawwaz, S.; Nikamo, P.; Törn, C.; Landin-Olsson, M ...; Lernmark, A.; Alarcón-Riquelme ...; visa fler...; Kockum, I.; visa färre...

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