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 language | English (US) |
|---|---|
| Pages (from-to) | 279-287 |
| Number of pages | 9 |
| Journal | Genes and Immunity |
| Volume | 8 |
| Issue number | 4 |
| DOIs | |
| State | Published - Jun 2007 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Immunology
- Genetics
Cite this
Association of PDCD1 genetic variation with risk and clinical manifestations of systemic lupus erythematosus in a multiethnic cohort. / Thorburn, C. M.; Prokunina-Olsson, L.; Sterba, K. A.; Lum, R. F.; Seldin, Michael F; Alarcon-Riquelme, M. E.; Criswell, Lindsay A.
In: Genes and Immunity, Vol. 8, No. 4, 06.2007, p. 279-287.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Association of PDCD1 genetic variation with risk and clinical manifestations of systemic lupus erythematosus in a multiethnic cohort
AU - Thorburn, C. M.
AU - Prokunina-Olsson, L.
AU - Sterba, K. A.
AU - Lum, R. F.
AU - Seldin, Michael F
AU - Alarcon-Riquelme, M. E.
AU - Criswell, Lindsay A.
PY - 2007/6
Y1 - 2007/6
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=34249997791&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34249997791&partnerID=8YFLogxK
U2 - 10.1038/sj.gene.6364383
DO - 10.1038/sj.gene.6364383
M3 - Article
C2 - 17344889
AN - SCOPUS:34249997791
VL - 8
SP - 279
EP - 287
JO - Genes and Immunity
JF - Genes and Immunity
SN - 1466-4879
IS - 4
ER -