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首页> 外文期刊>Clinical immunology: The official journal of the Clinical Immunology Society >Association of common mitochondrial DNA variants with multiple sclerosis and systemic lupus erythematosus.
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Association of common mitochondrial DNA variants with multiple sclerosis and systemic lupus erythematosus.

机译：常见的线粒体DNA变异与多发性硬化症和系统性红斑狼疮的关联。

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摘要

Mitochondrial dysfunction has been implicated in the pathogenesis of multiple sclerosis (MS) and systemic lupus erythematosus (SLE). This study re-investigates the roles of previously suggested candidate genes of energy metabolism (Complex I genes located in the nucleus and in the mitochondria) in patients with MS relative to ethnically matched SLE patients and healthy controls. After stringent correction for multiple testing, we reproduce the association of the mitochondrial (mt)DNA haplotype K* with MS, but reject the importance of previously suggested borderline associations with nuclear genes of Complex I. In addition, we detect the association of common variants of the mitochondrial ND2 and ATP6 genes with both MS and SLE, which raises the possibility of a shared mitochondrial genetic background of these two autoimmune diseases.
机译：线粒体功能障碍与多发性硬化症（MS）和系统性红斑狼疮（SLE）的发病机理有关。这项研究重新调查了先前建议的能量代谢候选基因（位于核和线粒体中的复合I基因）相对于种族匹配的SLE患者和健康对照者的作用。经过严格的多次测试校正后，我们重现了线粒体（mt）DNA单倍型K *与MS的关联，但拒绝了先前建议的与复杂I核基因的边界关联的重要性。此外，我们还检测了常见变体的关联线粒体ND2和ATP6基因与MS和SLE结合使用，这增加了这两种自身免疫性疾病共有线粒体遗传背景的可能性。

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