Abstract
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.
Highlights
Systemic Lupus Erythematosus is an autoimmune disease with a very varied spectrum of clinical manifestations [1]
ancestry informative markers (AIMs) genotypes and population substructure None of the five AIMs was significantly deviated from Hardy-Weinberg equilibrium (HWE) in any of the sample collections (P.0.01)
The AIMs we have used were able to show European population substructure. Their variation was mainly marked by the North-South differentiation that has been found in previous studies [10,11,12,13]. This is remarkable because our analysis included only a fraction of the many European populations used in these studies
Summary
Systemic Lupus Erythematosus is an autoimmune disease with a very varied spectrum of clinical manifestations [1] It can affect multiple tissues and organs including kidneys, joints, skin, pleura and pericardium, diverse blood cells and the nervous system. It is associated with a large variety of auto-antibodies and abnormalities of the immune system. The disease course alternates flares and periods of remission and clinical presentation can be different in subsequent flares from the observed previously in the same patient. This clinical heterogeneity poses many challenges to clinical diagnosis, treatment and research. Our understanding of its causes is still very incomplete, it seems that genetic, environmental and socioeconomic factors have a role
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