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Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study
- Source :
- Moser, K.L., Kelly, J.A., Lessard, C.J., Harley, J.B., Recent insights into the genetic basis of systemic lupus erythematosus (2009) Genes Immun., 10, pp. 373-379, Repositorio EdocUR-U. Rosario, Universidad del Rosario, instacron:Universidad del Rosario
- Publication Year :
- 2011
-
Abstract
- Systemic lupus erythematosus (SLE) is considered to be the prototypic autoimmune disease, with a complex genetic architecture influenced by environmental factors. We sought to replicate a putative association at 11p13 not yet exceeding genome-wide significance (p < 5 × 10-8) identified in a genome-wide association study (GWAS). Our GWA scan identified two intergenic SNPs located between PDHX and CD44 showing suggestive evidence of association with SLE in cases of European descent (rs2732552, p = 0.004, odds ratio [OR] = 0.78; rs387619, p = 0.003, OR = 0.78). The replication cohort consisted of >15,000 subjects, including 3562 SLE cases and 3491 controls of European ancestry, 1527 cases and 1811 controls of African American (AA) descent, and 1265 cases and 1260 controls of Asian origin. We observed robust association at both rs2732552 (p = 9.03 × 10-8, OR = 0.83) and rs387619 (p = 7.7 × 10-7, OR = 0.83) in the European samples with pmeta = 1.82 × 10-9 for rs2732552. The AA and Asian SLE cases also demonstrated association at rs2732552 (p = 5 × 10-3, OR = 0.81 and p = 4.3 × 10-4, OR = 0.80, respectively). A meta-analysis of rs2732552 for all racial and ethnic groups studied produced pmeta = 2.36 × 10-13. This locus contains multiple regulatory sites that could potentially affect expression and functions of CD44, a cell-surface glycoprotein influencing immunologic, inflammatory, and oncologic phenotypes, or PDHX, a subunit of the pyruvate dehydrogenase complex. © 2011 The American Society of Human Genetics.
- Subjects :
- Male
Asian Continental Ancestry Group
American Native Continental Ancestry Group
Major Clinical Study
European Continental Ancestry Group
Hispanic
Genetic Susceptibility
Pyruvate Dehydrogenase Complex
Caucasian
Systemic Lupus Erythematosus
Chromosomes
Linkage Disequilibrium
Article
Cohort Studies
Cd44V Antigen
Enfermedades autoinmunes
Lupus Eritomatoso Sistémico
Humans
Chromosome 11P
Controlled Study
Pair 11
Antigens
Polymorphism
African American
African Americans
Enfermedades de la piel
Asian
Lupus Erythematosus
Meta Analysis
Systemic
Single Nucleotide
Genetic Predisposition To Disease
Gene Locus
Statistical Analysis
Haplotypes
Genetic Loci
American Indian
Priority Journal
Single Nucleotide Polymorphism
Female
Cd44
Hispanic Americans
Cohort Analysis
Genetic Association
Human
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Moser, K.L., Kelly, J.A., Lessard, C.J., Harley, J.B., Recent insights into the genetic basis of systemic lupus erythematosus (2009) Genes Immun., 10, pp. 373-379, Repositorio EdocUR-U. Rosario, Universidad del Rosario, instacron:Universidad del Rosario
- Accession number :
- edsair.od......3056..56500f4bcb0c85149fc9b182ca232b5e