Association of Systemic Lupus Erythematosus Clinical Features with European Population Genetic Substructure
Association of Systemic Lupus Erythematosus Clinical Features with European Population Genetic Substructure
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DOI：
10.1371/journal.pone.0029033
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发表时间：
2011-12-14
期刊：
影响因子：
3.7
通讯作者：
Gonzalez, Antonio
中科院分区：
文献类型：
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作者：
Alonso-Perez, Elisa;Suarez-Gestal, Marian;Gonzalez, Antonio
系统性红斑狼疮(SLE)是一种自身免疫性疾病，临床表现多种多样，部分由遗传因素决定。我们的目的是确定11个临床特征的患病率和发病年龄与欧洲人群遗传亚结构的关系。对在9个国家招募的1413名欧洲血统患者的数据进行了测试，以确定与顶级血统信息标记的基因类型的相关性。表型与其所提取的主成分或基因型之间的Logistic回归分析。我们使用了遗传加法模型，并根据性别和病程进行了调整。有三个临床特征与祖先信息标志有关：自身抗体产生定义为免疫性疾病(P=6.8×10(-4))，口腔溃疡(P=6.9×10(-4))和光敏性(P=0.002)。免疫紊乱与南欧祖先中更常见的基因类型有关，而在光敏方面则观察到相反的趋势。口腔溃疡在西班牙和葡萄牙自称祖先的患者中尤其常见。这些结果应该在未来的研究中得到考虑，并提出新的假设和可能的潜在机制有待研究。第一个假设是将光敏性与皮肤色素沉着的变化联系起来。
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 = 6.8x10(-4)), oral ulcers (P = 6.9x10(-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.