Cited by 62Systemic Lupus Erythematosus ResearchGenetic Associations and EpidemiologySystemic Sclerosis and Related Diseases

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 L +3 more·2007·European Journal of Human Genetics

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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Crossref · 10.1038/sj.ejhg.5201767

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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
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

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