European population substructure correlates with systemic lupus erythematosus endophenotypes in North Americans of European descent

Richman, Ilana B.; Chung, Sharon A.; Taylor, Kimberly E.; Kosoy, Roman; Tian, Chao; Ortmann, Ward; Nititham, Joanne; Lee, Annette T.; Rutman, Sarah; Petri, Michelle; Manzi, Susan; Behrens, Timothy W.; Gregersen, Peter K.; Seldin, Michael F.; Criswell, Lindsey A.

doi:10.1038/gene.2009.80

Cited by 19 publications

(21 citation statements)

References 20 publications

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“…Future studies may define the underlying variations that presumably can explain why particular ancestries predispose to particular disease manifestations (e.g. mucocutaneous manifestations were higher in northern compared with southern European ancestry and the opposite was found for anti-ds DNA in SLE) [106, 107]. …”

Section: Ancestry Makes a Differencementioning

confidence: 99%

The genetics of human autoimmune disease: A perspective on progress in the field and future directions

Seldin

2015

Journal of Autoimmunity

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Progress in defining the genetics of autoimmune disease has been dramatically enhanced by large scale genetic studies. Genome-wide approaches examining hundreds or for some diseases thousands of cases and controls have been implemented using high throughput genotyping and appropriate algorithms to provide a wealth of data over the last decade. These studies have identified hundreds of non-HLA loci as well as further defining HLA region variations that predispose to different autoimmune diseases. These studies to identify genetic risk loci are also complemented by progress in gene expression studies including definition of expression quantitative trait loci (eQTL), various alterations in chromatin structure including histone marks, DNase I sensitivity, repressed chromatin regions as well as transcript factor binding sites. Integration of this information can partially explain why particular variations can alter proclivity to autoimmune phenotypes. Despite our incomplete knowledge base with only partial definition of hereditary factors and possible functional connections, this progress has and will continue to facilitate a better understanding of critical pathways and critical changes in immunoregulation. Advances in defining and understanding functional variants potentially can lead to both novel therapeutics and personalized medicine in which therapeutic approaches are chosen based on particular molecular phenotypes and genomic alterations.

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Section: Ancestry Makes a Differencementioning

confidence: 99%

The genetics of human autoimmune disease: A perspective on progress in the field and future directions

Seldin

2015

Journal of Autoimmunity

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“…16 Skin lesions, occurring in about 75% of patients with LE, are often polymorphic, 17,18 but are important diagnostic markers. For example, several aspects of the American College of Rheumatology diagnostic criteria for this disease emphasize cutaneous signs and symptoms.…”

Section: Lupus Erythematosusmentioning

confidence: 99%

Multisystemic diseases and ethnicity: a focus on lupus erythematosus, systemic sclerosis, sarcoidosis and Behçet disease

Petit

Dadzie

2013

Br J Dermatol

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“…It is worth to mention that immunological disorder was also associated with the two first PCs in the study done in European American SLE patients [9]. This association was interpreted as meaning that a Southern and Western European ancestry predisposes to autoantibody production.…”

Section: Discussionmentioning

confidence: 90%

Association of Systemic Lupus Erythematosus Clinical Features with European Population Genetic Substructure

et al. 2011

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Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population genetic substructure. Data from 1413 patients of European ancestry recruited in nine countries was tested for association with genotypes of top ancestry informative markers. This analysis was done with logistic regression between phenotypes and genotypes or principal components extracted from them. We used a genetic additive model and adjusted for gender and disease duration. Three clinical features showed association with ancestry informative markers: autoantibody production defined as immunologic disorder (P = 6.8×10−4), oral ulcers (P = 6.9×10−4) and photosensitivity (P = 0.002). Immunologic disorder was associated with genotypes more common in Southern European ancestries, whereas the opposite trend was observed for photosensitivity. Oral ulcers were specifically more common in patients of Spanish and Portuguese self-reported ancestry. These results should be taken into account in future research and suggest new hypotheses and possible underlying mechanisms to be investigated. A first hypothesis linking photosensitivity with variation in skin pigmentation is suggested.

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European population substructure correlates with systemic lupus erythematosus endophenotypes in North Americans of European descent

Cited by 19 publications

References 20 publications

The genetics of human autoimmune disease: A perspective on progress in the field and future directions

The genetics of human autoimmune disease: A perspective on progress in the field and future directions

Multisystemic diseases and ethnicity: a focus on lupus erythematosus, systemic sclerosis, sarcoidosis and Behçet disease

Association of Systemic Lupus Erythematosus Clinical Features with European Population Genetic Substructure

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