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Nat Genet:外国学者发现骨质疏松治疗新靶点

摘要 : 2017年9月4日,国际学术权威刊物自然出版集团旗下子刊《Nature Genetics》杂志在线发表了加拿大麦基尔大学J Brent Richards研究员和澳大利亚昆士兰大学David M Evans研究员合作的一篇研究论文,研究发现上百个基因变异与骨密度下降有关,有助于研发针对骨质疏松的新的筛查和治疗方法。

2017年9月4日,国际学术权威刊物自然出版集团旗下子刊《Nature Genetics》杂志在线发表了加拿大麦基尔大学J Brent Richards研究员和澳大利亚昆士兰大学David M Evans研究员合作的一篇研究论文,研究发现上百个基因变异与骨密度下降有关,有助于研发针对骨质疏松的新的筛查和治疗方法。

研究人员,对英国生物医学库中超过14万人的基因数据进行分析,并利用超声波测试了研究对象的骨密度,结果发现了153个与骨骼矿物质密度下降有关的基因变异,其中约12%与遗传有关。这项研究新发现的此类基因变异数量是目前已知的3倍。

研究人员介绍说,此次研究还发现,有些与骨密度下降有关的基因变异,比如GPC6基因,其编码蛋白质存在于细胞表面,这为相关疾病的治疗提供了新靶点。动物实验显示,从这些靶点入手采取基因疗法,有助于提高骨密度。研究人员说,新发现有助于研发新的筛查方法,他们将进一步研究,争取识别出对治疗骨质疏松最有效的基因。

原文链接:

Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis

原文摘要:

Osteoporosis is a common disease diagnosed primarily by measurement of bone mineral density (BMD). We undertook a genome-wide association study (GWAS) in 142,487 individuals from the UK Biobank to identify loci associated with BMD as estimated by quantitative ultrasound of the heel. We identified 307 conditionally independent single-nucleotide polymorphisms (SNPs) that attained genome-wide significance at 203 loci, explaining approximately 12% of the phenotypic variance. These included 153 previously unreported loci, and several rare variants with large effect sizes. To investigate the underlying mechanisms, we undertook (1) bioinformatic, functional genomic annotation and human osteoblast expression studies; (2) gene-function prediction; (3) skeletal phenotyping of 120 knockout mice with deletions of genes adjacent to lead independent SNPs; and (4) analysis of gene expression in mouse osteoblasts, osteocytes and osteoclasts. The results implicate GPC6 as a novel determinant of BMD, and also identify abnormal skeletal phenotypes in knockout mice associated with a further 100 prioritized genes.

来源: Nature Genetics 浏览次数:0

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