Association of PDCD1 polymorphisms with childhood-onset systemic lupus erythematosus
Abstract
A regulatory single nucleotide polymorphism (SNP) PD1.3G/A located on programmed cell death 1 (PDCD1) gene, was shown to be involved in susceptibility to systemic lupus erythematosus (SLE) in Swedish, European American, and Mexican cases. However, association to childhood-onset SLE has not been analyzed. The aim of this study was to investigate the association of PDCD1 polymorphisms and haplotypes with susceptibility to childhood-onset SLE in Mexican population. Three PDCD1 SNPs, PD1.3G/A, PD1.5C/T, PD1.6G/A, were analyzed in 250 childhood-onset SLE Mexican patients and 355 healthy controls in a case-control association study. Polymorphisms were genotyped by TaqMan technology. Stratification analysis was performed on the SLE cohort to investigate the SNP association with renal disorder. In addition, haplotypes were constructed with these three SNPs. The PD1.3A allele was significantly associated to childhood-onset SLE (P=0.0019, odds ratio (OR) 2.73, 95% confidence interval (95% CI) 1.35-5.56). The other PDCD1 SNPs did not show association. A total of 155 patients (62%) had nephritis, and no association was observed with PDCD1 SNPs. The ACG haplotype (PD1.3A, PD1.5C, PD1.6G) included almost all PD1.3A alleles, and it was more frequent in SLE patients (5.5%) than in controls (2.1%) (P=0.003; OR 2.73, 95% CI 1.37-5.46). The haplotype structure in Mexican controls was significantly different from those reported in Spanish and Swedish. Our results support association of the PD1.3A SNP to susceptibility of childhood-onset SLE in Mexican population and does not show association to lupus nephritis in this age group.
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Humans with genetic polymorphisms in the PD-1 locus have an increased likelihood of developing various autoimmune diseases.
“Humans with genetic polymorphisms in the PD-1 locus also have an increased likelihood of developing various autoimmune diseases (51, 52).”
From Anti-PD-1 and Anti-CTLA-4 Therapies in Cancer: Mechanisms of Action, Efficacy, and Limitations (2018) · cites this paper as [52]
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- Authors
- Velázquez-Cruz, R., Orozco, L., Espinosa-Rosales, F., Carreño-Manjarrez, R., Solís-Vallejo, E., López-Lara, N. D., Ruiz-López, I. K., Rodríguez-Lozano, A. L., Estrada-Gil, J. K., Jiménez-Sánchez, G., & Baca, V.
- Affiliations
- National Institute of Genomic Medicine (MX)
- Instituto Nacional de Pediatria (MX)
- Hospital Infantil de México Federico Gómez (MX)
- Mexican Social Security Institute (MX)
- Corresponding author
- Orozco, Lorena
- Baca, Vicente
- Venue
- European Journal of Human Genetics
- Published
- 2007-01-17
- Volume
- 15
- Issue
- 3
- Pages
- 336-341
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- OpenAlex
- W2098149318
- Cited by
- 62
- References
- 26
- Citations by year
- 2026: 1 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 3 · 2020: 1 · 2019: 3 · 2018: 2 · 2017: 4 · 2016: 4 · 2015: 6 · 2014: 6 · 2013: 4 · 2012: 4
- FWCI
- 3.68
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Consejo Nacional de Ciencia y Tecnología
- Instituto Mexicano del Seguro Social
- Topics
- Health Sciences › Medicine › Rheumatology › Systemic Lupus Erythematosus Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Pathology and Forensic Medicine › Systemic Sclerosis and Related Diseases
- Keywords
- pediatric lupus, PDCD1, PD-1, single nucleotide polymorphisms, haplotypes, genetic susceptibility, lupus nephritis, Mexican population, genetic association
- MeSH terms
- Child, Female, Humans, Lupus Erythematosus, Systemic, Lupus Nephritis, Male, Polymorphism, Genetic, Antigens, CD, Case-Control Studies, Age of Onset, Genetic Predisposition to Disease, Apoptosis Regulatory Proteins, Programmed Cell Death 1 Receptor
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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