Association of PDCD1 genetic variation with risk and clinical manifestations of systemic lupus erythematosus in a multiethnic cohort

C. M. Thorburn, L. Prokunina-Olsson, K. A. Sterba, R. F. Lum, Michael F Seldin, M. E. Alarcon-Riquelme, Lindsay A. Criswell

Research output: Contribution to journalArticle

75 Scopus citations

Abstract

We evaluated the roles of five single-nucleotide polymorphisms (SNPs) within PDCD1, and haplotypes defined by these SNPs, for the development of systemic lupus erythematosus (SLE) and specific sub-phenotypes (nephritis, antiphospholipid antibody positive, arthritis and double-stranded DNA positive) within a multiethnic US cohort of 1036 patients. Family based analyses were performed using 844 simplex families from four ethnic groups (Caucasian, Asian, Hispanic and African American). Subjects were genotyped for five 'tag' SNPs (selected from 15) to provide complete genetic information in all main ethnic groups. We employed transmission disequilibrium testing to assess risk for SLE by allele or haplotype, and multiple logistic regression analysis of SLE cases to examine associations with specific sub-phenotypes. In family based analyses, a haplotype containing the PD1.3A allele was significantly associated with SLE susceptibility among Caucasian families (P=0.01). Among Hispanic families, two novel SNPs were associated with SLE risk (P=0.005 and 0.01). In multivariate logistic regression analyses, five haplotypes were associated with specific sub-phenotypes among the different ethnic groups. These results suggest that PDCD1 genetic variation influences the risk and expression of SLE and that these associations vary according to ethnic background.

Original languageEnglish (US)
Pages (from-to)279-287
Number of pages9
JournalGenes and Immunity
Volume8
Issue number4
DOIs
StatePublished - Jun 2007

ASJC Scopus subject areas

  • Genetics(clinical)
  • Immunology
  • Genetics

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    Thorburn, C. M., Prokunina-Olsson, L., Sterba, K. A., Lum, R. F., Seldin, M. F., Alarcon-Riquelme, M. E., & Criswell, L. A. (2007). Association of PDCD1 genetic variation with risk and clinical manifestations of systemic lupus erythematosus in a multiethnic cohort. Genes and Immunity, 8(4), 279-287. https://doi.org/10.1038/sj.gene.6364383