无证据表明PDCD1基因与1型糖尿病有关联。

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

作者信息

Asad S, Nikamo P, Törn C, Landin-Olsson M, Lernmark A, Alarcón-Riquelme M, Kockum I

机构信息

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

出版信息

Diabet Med. 2007 Dec;24(12):1473-7. doi: 10.1111/j.1464-5491.2007.02297.x.

DOI:10.1111/j.1464-5491.2007.02297.x

PMID:18042085

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.

摘要

目的

检测免疫受体程序性死亡蛋白1（PD-1，即PDCD1）基因与1型糖尿病（T1DM）之间的关联。据报道，该基因与系统性红斑狼疮（SLE）等其他自身免疫性疾病以及T1DM有关。

方法

在两个独立的瑞典患者和对照人群队列中，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）、焦磷酸测序和TaqMan技术对PDCD1基因中的单核苷酸多态性（SNP）进行基因分型：一个家系研究包含184个多位点家庭和8个单位点家庭，一个病例对照研究包含586例患者和836名对照。对三个SNP进行基因分型：PD-1 7146、PD-1 7785和PD-1 8738。