Risk Alleles for Systemic Lupus Erythematosus in a Large Case-Control Collection and Associations with Clinical Subphenotypes

Autor: Timothy W. Behrens, M. Ilyas Kamboh, Patrick M. Gaffney, Carl D. Langefeld, Ward Ortmann, Sharon A. Chung, Peter K. Gregersen, Betty P. Tsao, John B. Harley, Marta E. Alarcón-Riquelme, Michelle Petri, Chaim O. Jacob, Kathy L. Moser, Kimberly E. Taylor, Susan Manzi, Lindsey A. Criswell, Robert R. Graham, Annette Lee
Jazyk: angličtina
Rok vydání: 2011
Předmět:
Male
Cancer Research
Genome-wide association study
0302 clinical medicine
Odds Ratio
Lupus Erythematosus
Systemic
Genetics (clinical)
Genetics and Genomics/Genetics of Disease
0303 health sciences
Principal Component Analysis
3. Good health
Phenotype
Antibodies
Antinuclear
Area Under Curve
Genetics and Genomics/Genetics of the Immune System
Female
Research Article
medicine.medical_specialty
lcsh:QH426-470
Single-nucleotide polymorphism
Biology
Genetics and Genomics/Complex Traits
Polymorphism
Single Nucleotide
03 medical and health sciences
Internal medicine
Genetics
medicine
Humans
Genetic Predisposition to Disease
Allele
Molecular Biology
Genotyping
Ecology
Evolution
Behavior and Systematics
Rheumatology/Autoimmunity
Autoimmune
and Inflammatory Diseases
Alleles
030304 developmental biology
Genetic association
030203 arthritis & rheumatology
Lupus erythematosus
Models
Genetic
Case-control study
Reproducibility of Results
Odds ratio
medicine.disease
lcsh:Genetics
Logistic Models
Genetics and Genomics/Disease Models
ROC Curve
Rheumatology/Systemic Lupus Erythematosos
Case-Control Studies
Immunology
Zdroj: PLoS Genetics
PLoS Genetics, Vol 7, Iss 2, p e1001311 (2011)
ISSN: 1553-7404
1553-7390
Popis: Systemic lupus erythematosus (SLE) is a genetically complex disease with heterogeneous clinical manifestations. Recent studies have greatly expanded the number of established SLE risk alleles, but the distribution of multiple risk alleles in cases versus controls and their relationship to subphenotypes have not been studied. We studied 22 SLE susceptibility polymorphisms with previous genome-wide evidence of association (p
Author Summary Systemic lupus erythematosus is a chronic disabling autoimmune disease, most commonly striking women in their thirties or forties. It can cause a wide variety of clinical manifestations, including kidney disease, arthritis, and skin disorders. Prognosis varies greatly depending on these clinical features, with kidney disease and related characteristics leading to greater morbidity and mortality. It is also complex genetically; while lupus runs in families, genes increase one's risk for lupus but do not fully determine the outcome. The interactions of multiple genes and/or interactions between genes and environmental factors may cause lupus, but the causes and disease pathways of this very heterogeneous disease are not well understood. By examining relationships between the presence of multiple lupus risk genes, lupus susceptibility, and clinical manifestations, we hope to better understand how lupus is triggered and by what biological pathways it progresses. We show in this work that certain clinical manifestations of lupus are highly associated with cumulative genetic variations, i.e. multiple risk alleles, while others are associated with a single variation or none at all.
Databáze: OpenAIRE
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