Association between the PD1.3A/G polymorphism of the <i>PDCD1</i> gene and systemic lupus erythematosus in European populations: a meta‐analysis

Jl, Liu; Zhang, Fengyu; Yh, Liang; Fl, Xiao; Sq, Zhang; Yl, Cheng; Cd, Yuan; Chen, QP; Yang, Sen; Xj, Zhang

doi:10.1111/j.1468-3083.2009.03087.x

Cited by 31 publications

(13 citation statements)

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“…Prokunina et al (2002) found that a regulatory single-nucleotide polymorphism (SNP) PD1.3G/A located in the programmed cell death 1 (PDCD1) gene is involved in susceptibility to SLE in Swedish, European American, and Mexican cases. Metaanalysis has demonstrated a significant association between PD1.3A and SLE among non-Spanish European descendants, while a negative association was observed in a Spanish population (Liu et al, 2009). In this study, we investigated the associations between rs2227981, rs2227982, and rs11568821 polymorphisms of the PDCD1 gene and SLE, but did not find any.…”

Section: Discussionmentioning

confidence: 86%

Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han

Hr¹,

Hs²,

Sc³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Systemic lupus erythematosus (SLE) is an autoimmune disease that results in chronic inflammation of different organ systems. Several susceptibility loci for SLE have been suggested in different populations, but the nature of the susceptibility genes has yet to be determined. The programmed cell death 1 gene (PDCD1), the cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, and the methyl-CpGbinding protein 2 gene (MECP2) are considered to be the candidate genes associated with SLE. We analyzed the role of PDCD1, CTLA4, and MECP2 gene polymorphisms in Han patients suffering from SLE. Using a casecontrol study, 263 SLE patients and 263 healthy controls were collected from Chinese Northern Han people. Genomic DNA was prepared from peripheral blood leukocytes and the genotyping was performed using a polymerase chain reaction/ligase detection reaction assay. A statistically significant difference was observed in the rs2239464 and rs2075596 polymorphisms of MECP2 between SLE subjects and controls. The GG genotype in rs2239464 and the GG genotype in rs2075596 might protect against SLE. In contrast, no such association was found in the CTLA4 or PDCD1 polymorphisms. The rs2239464 and rs2075596 polymorphisms of MECP2 might play a significant role in the development of SLE in the Northern Han of China.

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Section: Discussionmentioning

confidence: 86%

Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han

Hr¹,

Hs²,

Sc³

et al. 2015

Genet. Mol. Res.

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“…However, PD-1.3 gene was found to be polymorphic in Iran, while A allele frequency was 9% and 11% in patients and controls, respectively. Earlier studies in the European population also showed polymorphism in this region [28], while in the Eastern Asian populations, this region was revealed to be non-polymorphic [19,29]. Such differences could be explained considering different ethnicities in the different regions of the world.…”

Section: Discussionmentioning

confidence: 77%

Study of Programmed Cell Death 1 (PDCD1) Gene Polymorphims in Iranian Patients with Ankylosing Spondylitis

et al. 2010

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Ankylosing spondylitis (AS) is a chronic inflammatory disease, characterized by axial arthritis in which the genetic-environmental factors seem to be involved in the pathogenesis of the disease. This study was performed to investigate the role of polymorphisms of the programmed cell death 1 (PDCD1) gene on susceptibility to AS. In this study, 161 Iranian patients with AS and 208 normal controls were enrolled; two single-nucleotide polymorphisms (SNPs) of the PDCD1 gene PD-1.3 (G, A) in nucleotide position +7146 of intron 4 and PD-1.9 (C, T) in nucleotide +7625 of exon 5 were studied. Analysis of PD-1.3 revealed that 82% of patients and 79% of controls had GG genotype, while GA and AA genotypes were detected in 17% and 0.6% of patients, respectively, and 20% and 1.4% of controls, respectively. Moreover, the genotype CC (PD-1.9) was present in 92% of patients and 97% of controls. Although these differences were not statistically significant between patients and controls, comparisons of genotypes frequencies in the AS patients, based on human leukocyte antigen (HLA)-B27, revealed that all patients who had CT genotype (PD-1.9) were HLA-B27 positive, whereas 30% of patients with CC genotype were HLA-B27 negative. There was no evidence of association for PDCD1 SNPs with AS in our study, but CT genotype (PD-1.9) seems to be associated with HLA-B27 positivity in the patients with AS.

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“…Two previous meta-analyses [33, 34] were conducted almost at the same time(in 2009) to explore the association between PDCD1 polymorphisms and SLE. Liu et al [33]paid attention to the effect of PD1.3 polymorphism on SLE risk in European populations by combining results in meta-analysis.…”

Section: Discussionmentioning

confidence: 99%

Meta-analysis of programmed cell death 1 polymorphisms with systemic lupus erythematosus risk

Gao

Gai²,

Wang

et al. 2017

Oncotarget

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The association of polymorphisms in programmed cell death 1 (PDCD1) gene with systemic lupus erythematosus (SLE) risk is inconsistent across different studies. This meta-analysis is aimed to provide reliable evidence to the association of five common PDCD1 polymorphisms (PD1.1, PD1.2, PD1.3, PD1.5 and PD1.6) with SLE risk. A total of 28 studies with 4,344 SLE cases and 5,474 healthy controls were included in this meta-analysis. PD1.3 polymorphism was significantly associated with SLE in the overall population (A vs. G: OR = 1.35, 95% CI = 1.12-1.63; GA vs.GG: OR = 1.41, 95% CI = 1.12-1.76; AA+GA vs. GG: OR = 1.41, 95% CI = 1.13-1.7). In the stratified analyses based on ethnicity, we found a significant association in Caucasians and in Mexicans. In the subgroup analyses by gender, a significant association was found between PD1.3 polymorphism and SLE risk in males. The results also suggested an association between the PD1.6 polymorphism and decreased SLE risk (A vs. G: OR = 0.84, 95% CI = 0.73-0.96). Our meta-analysis revealed that PD1.3 polymorphism may increase the susceptibility to SLE, particularly in Caucasians, while PD1.6 may be a protective factor to SLE.

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Association between the PD1.3A/G polymorphism of the PDCD1 gene and systemic lupus erythematosus in European populations: a meta‐analysis

Abstract: This meta-analysis demonstrates a significant association between PD1.3A and SLE among non-Spanish European descents, while a negative association was observed in Spanish population.

Cited by 31 publications

References 50 publications

Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han

Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han

Study of Programmed Cell Death 1 (PDCD1) Gene Polymorphims in Iranian Patients with Ankylosing Spondylitis

Meta-analysis of programmed cell death 1 polymorphisms with systemic lupus erythematosus risk

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