主页 > 医学讨论 >
【bio-news】科学家发现和系统性红斑狼疮相关的基
科学家发现和女性狼疮相关的基因
Newswise — An international consortium of scientists has identified multiple genes that are linked to systemic lupus erythematosus, a devastating autoimmune disease that affects between 1 million and 2 million Americans. Reporting in Nature Genetics, the scientists also confirmed earlier findings linking lupus to several other genes – highlighting the role that genetics plays in the disease.
Newswise——一国际研究社团研究发现多个和系统性红斑狼疮（SLE）相关的基因。SLE是一种极具危害性的自身免疫性疾病，每年有1到2百万的美国人罹患此病。科学家们的发现发表在《自然遗传》杂志上，这一结果还肯定了早先所发现的其他数个和SLE相关的基因——充分证明了遗传因素在该疾病中的重要作用。
“These findings underscore that numerous genes, which are often immune-function related, contribute to the risk of developing lupus,” said Carl D. Langefeld, Ph.D., senior author from Wake Forest University School of Medicine and co-director of the International Consortium for Systemic Lupus Erythematosus Genetics (http://www.SLEGEN.org).
Wake Forest大学医学院资深作者兼SLE遗传学国际社团(http://www.SLEGEN.org).副主任Carl D.Langefeld博士说：“这些发现突出说明了许多和免疫功能相关的基因在增加SLE发病风险中的作用。”
“These results suggest biologic pathways that help us understand the condition better and suggest additional genetic and non-genetic triggers,” said Langefeld. “In addition, they help delineate the genetic distinctions between rheumatoid arthritis, lupus and other autoimmune diseases, which could lead to earlier, more accurate diagnoses.”
“这些结果能让我们从生物学的通路的角度更好地了解疾病，并提示了更多一些遗传和非遗传的诱因，”Langefeld说。“另外，这也有助我们在遗传学上区分类风湿性关节炎、SLE和其他自身免疫性疾病，这对早期正确诊断非常有益。”
Systemic lupus can involve the joints, kidneys, heart, lungs, brain and blood. The disease occurs in about 31 out of every 100,000 people and affects women nine times more frequently than men. Scientists believe that lupus is caused by genetic variants that interact with each other and the environment.
SLE是累及关节、肾脏、心脏、肺、脑和血液的系统性疾病。发病率为每10万人31例，女性的发表率比男性多9倍。科学家们认为SLE是多基因变异后相互作用并在一定的环境因素的作用下发发病的。
The current study was made possible because of advances in technology that allow researchers to take a more systematic approach to looking at the entire genome. It was supported by the Alliance for Lupus Research and the National Institutes of Health.
目前的研究能够完成还要感谢技术的进步。由国家卫生研究院（NIH）和狼疮研究联盟技术支持让研究者们能对整个基因组进行更加系统的研究。
The researchers studied the DNA of 720 women of European descent with lupus and 2,337 women without lupus. They scanned the entire genome for more than 317,000 single nucleotide polymorphisms (SNPs), which are locations on chromosomes where a single unit of DNA, or genetic material, may vary from one person to the next. The goal was to identify SNPs linked to lupus. They confirmed these results in another independent set of 1,846 women with lupus and 1,825 women without lupus.
研究人员对720名具有欧洲血统的SLE女性病人和 2337名无SLE的女性进行了研究。他们检测了整个基因组内317000个单核苷酸多态性（SNP）。SNP指染色体上单个DNA 单位或遗传物质在人群中的差异。目的是要发现SNP和SLE的关系。通过另外一组对1846名SLE女性和1825名无SLE女性的独立研究进一步证实了他们的结果。
The scientists found evidence of an association with multiple SNPs in three genes: ITGAM, KIAA1542 and PXK, and also at SNP rs10798269, which is not within any known gene. ITGAM is important for both the adherence of immune cells and for cleaning up pathogens. KIAA1542 is important for translating the DNA code into proteins. PXK encodes a molecule that transmits signals and controls complex processes in cells. These scientists also found association in genes previously associated with lupus and other autoimmune diseases.
科学家们的证据显示ITGAM、KIAA1542和PXK三个基因中的多个SNP具有相关性，还有未知基因内的SNP rs1079826。ITGAM对于免疫细胞的粘附和病原体的清除都很重要。KIAA154负责把基因密码翻译成蛋白。PXK蛋白能传递信号，调控复杂的细胞事件。在以前就明确的与SLE和其他自身免官性疾病相关的基因中，科学家们也找到了相关性。
The scientists are now focusing their attention on specific pathways and genes identified in this study, trying to dissect the precise molecular mechanisms by which these genes contribute to the risk for lupus. Genetic factors likely predict specific complications or patterns of complications. If so, it might be possible to intervene earlier in the process to delay or prevent their onset.
阅读本文的人还阅读：
作者:admin@医学,生命科学 2011-04-27 05:14
医学,生命科学网