<i>PDCD1</i>single nucleotide genes polymorphisms confer susceptibility to juvenile-onset systemic lupus erythematosus

Mahmoudi, Mahdi; Rezaiemanesh, Alireza; Salmaninejad, Arash; Harsini, Sara; Poursani, Shiva; Bahrami, Tayyeb; Tahghighi, Fatemeh; Ziaee, Vahid; Rezaei, Nima

doi:10.3109/08916934.2015.1058370

Cited by 29 publications

(14 citation statements)

References 26 publications

(51 reference statements)

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“…[11–16]. Interestingly, accumulating evidences showed that PD-1 single nucleotide polymorphisms (SNPs) were also correlated with susceptibility to human malignancy (e.g., thyroid cancer, breast cancer, cervical cancer, non-small cell lung cancer and gastric cancer et al .)…”

Section: Introductionmentioning

confidence: 99%

Programmed death-1 polymorphisms is associated with risk of esophagogastric junction adenocarcinoma in the Chinese Han population: A case-control study involving 2,740 subjects

Tang

Chen

et al. 2017

Oncotarget

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Single nucleotide polymorphisms (SNPs) in Programmed cell death 1 (PD-1) gene may contribute to the development of cancer. In this study, we selected PD-1 rs10204525 T>C, rs2227982 A>G, rs36084323 T>C and rs7421861 A>G polymorphisms and designed a hospital-based case-control study to determine the potential relationship between these functional SNPs in PD-1 gene and esophagogastric junction adenocarcinoma (EGJA) risk. A total of 1,063 EGJA patients and 1,677 controls were enrolled from Eastern Chinese Han population. SNPscanTMgenotyping assay was used to analyze the genotyping of PD-1 polymorphisms. We found that PD-1 rs7421861 A>G polymorphism was associated with the development of EGJA. However, PD-1 rs2227982 A>G polymorphism was a protective factor for EGJA. In addition, PD-1 rs36084323 CC homozygote genotype might be associated with a borderline decreased risk of EGJA. In a subgroup analysis, a decreased risk of EGJA in never drinking and never smoking groups was identified. Haplotype comparison analysis suggested that PD-1 Trs10204525Grs2227982C36084323Ars7421861 haplotype significantly decreased the risk of EGJA. However, Trs10204525Grs2227982C36084323Grs7421861 haplotype in PD-1 gene may confer risk to EGJA. In conclusion, our study highlights rs2227982 A>G, rs36084323 T>C and rs7421861 A>G polymorphisms and haplotypes in PD-1 gene, especially within the intron region, are significantly associated with the risk of EGJA. Further case-control studies with larger sample size and detailed gene-environmental data to replicate these findings in different populations are needed to validate our conclusion.

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Section: Introductionmentioning

confidence: 99%

Programmed death-1 polymorphisms is associated with risk of esophagogastric junction adenocarcinoma in the Chinese Han population: A case-control study involving 2,740 subjects

Tang

Chen

et al. 2017

Oncotarget

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“…Association of polymorphisms in programmed cell death 1 (PDCD1) 20,21 , protein tyrosine phosphatase non-receptor type 22 (PTPN22) 22,23 , and IL-4 24 genes, as well as C1q rs292001 SNP 25 has been observed in JSLE patients. In our previous study, we evaluated the association of programmed cell death1( also called PD-1) gene polymorphisms with JSLE susceptibility in the Iranian population and our finding supported the influence of the PD1.1 SNP on the development of juvenile systemic lupus erythematosus (JSLE) in the Iranian population 21,26 .…”

Section: Alleles and Genotypes Frequenciesmentioning

confidence: 99%

Association of STAT4 gene single nucleotide polymorphisms with Iranian juvenile-onset systemic lupus erythematosus patients

et al. 2017

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Our experiments demonstrated that G and T alleles of rs7574865 SNP had similar distribution between patients and controls (P = 0.16). Additionally, differences in frequency of GG, GT, and TT genotypes (P = 0.14, 0.29, and 0.54, respectively) were not significant. Likewise, A and G alleles, as well as genotypes of rs7601754 SNP did not show significant differences between JSLE patients and healthy individuals. Lack of association of rs7574865 and rs7601754 SNPs in STAT4 gene with susceptibility to JSLE in Iranian population, despite their association with the risk of adult SLE in the same population, implicates on difference of genetic background of JSLE and SLE.

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“…Recently, a number of case-control studies have investigated the relationship of PDCD1 polymorphisms with the susceptibility of SLE, but the results were inconsistent [10–14]. Prokunina et al .…”

Section: Introductionmentioning

confidence: 99%

“…But Mahmoudi et al . [14] found that PD1.1 polymorphism played a key role in the juvenile-onset SLE development in Iranian population. Based on these findings, the effects of PDCD1 polymorphisms have been widely discussed, but no conclusive relationships have been determined.…”

Section: Introductionmentioning

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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PDCD1single nucleotide genes polymorphisms confer susceptibility to juvenile-onset systemic lupus erythematosus

Cited by 29 publications

References 26 publications

Programmed death-1 polymorphisms is associated with risk of esophagogastric junction adenocarcinoma in the Chinese Han population: A case-control study involving 2,740 subjects

Programmed death-1 polymorphisms is associated with risk of esophagogastric junction adenocarcinoma in the Chinese Han population: A case-control study involving 2,740 subjects

Association of STAT4 gene single nucleotide polymorphisms with Iranian juvenile-onset systemic lupus erythematosus patients

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

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