Association of PDCD1 polymorphisms with childhood-onset systemic lupus erythematosus

Velázquez‐Cruz, Rafael; Orozco, Lorena; Espinosa-Rosales, Francisco; Carreño-Manjarrez, Roberto; Solís-Vallejo, Eunice; López-Lara, Norma D; Ruiz-López, Ivon K; Rodríguez-Lozano, Ana Luisa; Estrada‐Gil, Jesús K.; Jiménez‐Sánchez, Gerardo; Baca, Vicente

doi:10.1038/sj.ejhg.5201767

Cited by 56 publications

(49 citation statements)

References 17 publications

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“…2,3 However, most posterior studies have failed to replicate the PD1.3-SLE genetic association. In some studies, there was not association, 4,5 in others association was only with specific subsets of SLE patients, or association was with other polymorphisms in the PDCD1 gene 3,[6][7][8] or with the opposite allele of the PD1.3 single nucleotide polymorphism (SNP).…”

Section: Introductionmentioning

confidence: 99%

Analysis of the functional relevance of a putative regulatory SNP of PDCD1, PD1.3, associated with systemic lupus erythematosus

et al. 2008

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This study aimed to test the functional effects of the PD1.3 single nucleotide polymorphism (SNP) (rs11568821), which were proposed based on its association to systemic lupus erythematosus (SLE) susceptibility and in electrophoretic mobility shift assays (EMSA) results. We analysed transcriptional effects of the PD1.3 locus by enhancer reporter assays. Results were against the hypothesis that the PD1.3 locus acts as enhancer in transcriptional regulation of PDCD1. In addition, they excluded a differential effect of the PD1.3 alleles. EMSA results confirmed that oligonucleotides with the PD1.3 G allele bind RUNX1 but not those with the A allele. However, binding to PD1.3 G oligonucleotides was much lower than binding to positive control oligonucleotides. Criss-cross experiments showed that this was due to flanking nucleotides in the PD1.3 sequence that negatively affect RUNX1 binding. These results cast doubts on the functional relevance of the PD1.3 SNP and, together with the lack of association in several studies, put into question its role as an SLE susceptibility factor. Investigation of other PDCD1 polymorphisms is needed to uncover the possible effect of this gene on SLE susceptibility.

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Section: Introductionmentioning

confidence: 99%

Analysis of the functional relevance of a putative regulatory SNP of PDCD1, PD1.3, associated with systemic lupus erythematosus

et al. 2008

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“…In the PD-1 gene, several important polymorphic sites have been observed, such as 2 sites in the exon 5 region (PD-1.9 +7625C.T, PD-1.5 +7785C.T), and 1 site in the intron region (PD-1.3, +7146G.A). 28 The association of PD-1 polymorphisms with autoimmune diseases has previously been addressed. 29,30 The CD28 provides a positive costimulatory signal for T-cell proliferative responses after being expressed on T-cells.…”

Section: Articlementioning

confidence: 99%

Untitled

Niknam

Karimi²,

Geramizadeh³

et al. 2017

Exp Clin Transplant

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Objectives: Costimulatory molecules are important factors determining the outcome of transplant. The aim of the present study was to investigate the effect of CTLA-4, CD28, PD-1, and ICOS gene polymorphisms on the outcome of kidney transplant. Materials and Methods: A total of 172 kidney transplant recipients were included in this study. There were 45 recipients (26%) who experienced acute rejection. The CTLA-4, PD-1, ICOS, and CD28 gene polymorphisms were evaluated by polymerase chain reaction and restriction fragment length polymorphism methods. Results: There were no differences between kidney transplant recipients with or without acute rejection in the distribution of genotypes and alleles of studied costimulatory molecules. Significant associations were observed between the AA genotype and the A allele of CTLA-4 1661 (P = .04, P = .05) and also CT and TT genotypes of PD-1.9 in the male compared with female subgroup of patients, with low frequency in the acute rejection group (P = .03; P = .04). Significant associations were observed between the AA genotype and the A allele of CTLA-4 -1661 (P = .02; P = .01) and also GA genotype of PD-1.3 (P = .03) in the male subgroup compared with female subgroup with low frequency of acute rejection. A significant association was observed between TC genotype of CD28 in the female compared with male subgroup of patients with high frequency of acute rejection (P = .05). Conclusions:The above results suggest that genetic polymorphisms of costimulatory molecules function as sex-dependent risk factors for development of acute rejection. Further studies are needed in different populations.

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“…In addition, associations to SLE have been described for polymorphisms in PTPN22 (Baca et al 2006) and PDCD1 (Velazquez-Cruz et al 2007) in pediatric patients and for the latter in adult patients (Prokunina et al 2002).…”

Section: From Human Genetics To Genomic Medicinementioning

confidence: 99%

Genomic medicine in Mexico: Initial steps and the road ahead

Jiménez‐Sánchez

Silva‐Zolezzi²,

Hidalgo³

et al. 2008

Genome Res.

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Mexico faces important demographic and epidemiological transitions with significant implications to patterns of disease, disability, and death. On the one hand, there are problems of underdevelopment and, on the other, the emerging challenges of the chronic and degenerative diseases of the industrialized world. For these diseases, prevention becomes a key strategy for alleviating a major burden to the economy and health of the Mexican population. Genomic medicine has become a priority to the Mexican government as a means of finding new strategies to tackle common diseases. In 2000, strategic planning for genomic medicine began, from a feasibility study and a multi-institutional consortium effort, to the creation of a National Institute of Genomic Medicine by the Mexican congress in 2004. Current research programs in genomic medicine in Mexico include the construction of a haplotype map of the Mexican population, several genome-wide association studies for common diseases, such as diabetes, obesity, cardiovascular disease, and cancer, as well as translational medicine projects that include biomarkers discovery for several kinds of cancer, pharmacogenomics, and nutrigenomics. Although this strategy has been successful, there are challenges that still need to be addressed, including increased investment in science and technology to stimulate a more vigorous and competitive research environment, development of more effective basic and clinical research synergies, recruitment and training of more human resources in genomic medicine, developing mechanisms to stimulate translational research, and developing a more modern regulatory framework to ensure that genomic medicine will successfully contribute to improve healthcare in the Mexican population.

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Association of PDCD1 polymorphisms with childhood-onset systemic lupus erythematosus

Cited by 56 publications

References 17 publications

Analysis of the functional relevance of a putative regulatory SNP of PDCD1, PD1.3, associated with systemic lupus erythematosus

Analysis of the functional relevance of a putative regulatory SNP of PDCD1, PD1.3, associated with systemic lupus erythematosus

Untitled

Genomic medicine in Mexico: Initial steps and the road ahead

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