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Association of PDCD1 genetic variation with risk and clinical manifestations of systemic lupus erythematosus in a multiethnic cohort
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2007 (English)In: Genes and Immunity, ISSN 1466-4879, E-ISSN 1476-5470, Vol. 8, no 4, 279-287 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2007. Vol. 8, no 4, 279-287 p.
Keyword [en]
systemic lupus erythematosus, PDCD1, family, based method, haplotypes
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Medical and Health Sciences
URN: urn:nbn:se:uu:diva-12850DOI: 10.1038/sj.gene.6364383ISI: 000247115900001PubMedID: 17344889OAI: oai:DiVA.org:uu-12850DiVA: diva2:40620
Available from: 2008-06-02 Created: 2008-06-02 Last updated: 2011-01-28Bibliographically approved

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Alarcon-Riquelme, Marta E.
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