No evidence of association of the PDCD1 gene with Type 1 diabetes
No evidence of association of the PDCD1 gene with Type 1 diabetes
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DOI：
10.1111/j.1464-5491.2007.02297.x
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发表时间：
2007-12-01
影响因子：
3.5
通讯作者：
Kockum, I.
中科院分区：
文献类型：
--
作者：
Fawwaz, S.;Nikamo, P.;Kockum, I.
目的探讨免疫受体PD-1(PDCD1)基因与1型糖尿病(T1 DM)的关系。方法采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)、焦磷酸测序和TaqMan等方法对瑞典患者和对照组进行了PDCD1基因单核苷酸多态(SNPs)基因分型，其中包括184个多重和8个单纯性家系的家系研究和由586名患者和836名对照组组成的病例对照研究。对PD-17146、PD-17785和PD-18738三个SNPs进行了基因分型。结果未发现PDCD1基因SNPs与T1 DM之间存在关联或连锁。我们进一步进行了PD-1 7146、PD-1 7785和PD-1 8738与T1 DM的关联的Meta分析。结论PDCD1基因不太可能是T1 DM的主要易感基因。
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.