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【资讯翻译】Exome Sequencing Finds Inherited Genetic Variants in Isolat...

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发表于 2016-8-11 13:56:43 | 显示全部楼层 |阅读模式
Exome Sequencing Finds Inherited Genetic Variants in Isolated Congenital Heart Disease


NEW YORK (Reuters Health) - Exome sequencing implicates gene variants inherited from healthy parents in isolated congenital heart disease (non-syndromic CHD), according to an international group of researchers.

"These findings show that non-syndromic CHD patients (which comprise about 90% of all CHD cases) carry gene-damaging genetic variants, inherited from their parents, which are likely to play a role in the development of the disease," said co-first author Dr. Alejandro Sifrim of the Wellcome Trust Sanger Institute in Cambridge, U.K.

"Knowing if one carries these genetic variants is however not enough to clinically diagnose the disease as some of their relatives carry the same variants but have seemingly healthy hearts," Dr. Sifrim told Reuters Health by email. "We will need further studies to determine which factors, be it environmental or genetic, play a role in determining which carriers of these variants ultimately develop the disease."

Dr. Sifrim and colleagues, whose findings appeared online August 1 in Nature Genetics, exome sequenced almost 1,900 probands. Of these 1,281 were non-syndromic, while the remaining 610 were syndromic.

In non-syndromic CHD, the researchers "observed significant enrichment of PTVs (protein truncating variants) inherited from unaffected parents in CHD-associated genes."

Conversely, in syndromic CHD, the team observe that they "confirmed a significant enrichment of de novo PTVs but not inherited PTVs in known CHD-associated genes, consistent with recent findings."

The investigators identified three genome-wide significant syndromic CHD disorders caused by de novo mutations in CHD4, CDK13 and PRKD1.

In a statement, co-first author Dr. Marc-Phillip Hitz, of the Sanger Institute and the University Medical Center of Schleswig-Holstein, Germany, said, "Previous smaller scale studies have hinted at the possibility that non-syndromic CHD could be caused by inherited gene variants, but this is the first time that we have been able to show it with statistical evidence."

"This," he concluded, "was only possible due to the global collaboration of centres in the UK, Germany, Belgium, Canada, the United States of America and Saudi Arabia integrating data from many clinicians on a large number of families. We now know that some of the causative factors of the disease are inherited from their healthy parents, which will be extremely helpful for designing future studies of non-syndromic CHD, helping to understand what causes the disease."

信源地址:http://www.medscape.com/viewarticle/867277

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发表于 2016-8-11 15:41:47 | 显示全部楼层
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发表于 2016-8-11 16:42:39 | 显示全部楼层
外显子测序发现孤立的先天性心脏病中的遗传变异
纽约(路透社健康)-根据一个国际研究小组,外显子测序表明孤立的先天性心脏病(非综合征型先天性心脏病)患者从健康的父母遗传了变异基因。
“这些研究结果表明,非综合征型先天性心脏病患者(占所有先天性心脏病的90%)携带基因破坏性的遗传变异的基因,这些是从父母那里遗传下来的,它有可能在疾病的发展中发挥作用,共同第一作者,英国剑桥Wellcome Trust Sanger研究所的Alejandro Sifrim博士说。
“仅仅知道携带这些遗传变异是不足以对该疾病进行临床诊断的,因为他们的一些亲戚携带相同的变异基因,但他们拥有看似健康的心脏,”Sifrim博士通过电子邮件告诉路透社健康。“我们需要进一步的研究,以确定哪些因素,在确定携带这些变异基因的携带者最终发展成疾病中起重要作用,无论是环境或遗传因素。”
Sifrim博士和他的同事们,他们的研究结果在线发表在8月1日的自然遗传学杂志上,1900例患者进行了外显子测序。其中,1281例为非综合征型,其余610例为综合型。
在非综合征型先天性心脏病患者中,研究人员观察到,从父母遗传下来的先天性心脏病相关基因中有明显的蛋白截短变异富集区。”
正相反,在综合型先天性心脏病患者中,研究者发现,他们“证实了新的蛋白截短变异富集区,不是遗传而来的已知的先天性心脏病相关基因,与最近的研究发现相一致。”
研究者发现了三个全基因组显著综合型先天性心脏疾病是由CHD4,CDK13和PRKD1基因的新的突变引起的。
在一份声明中,共同第一作者,Sanger研究院和德国Schleswig-Holstein医疗中心的Marc Phillip Hitz博士说,“以前的小规模的研究已经提示,非综合征型冠心病可以通过遗传基因变异引起的可能性,但这是我们第一次已经能够用统计证据来表明它。”
“这一点,”他总结说,“是唯一可能的,由于从英国,德国,比利时,加拿大,美国和沙特阿拉伯的全球合作中心,从许多临床医生对大量的家族的数据进行整合的数据可以得出。我们现在知道,某些疾病的致病因素是从健康父母那里遗传的,这将会对未来的非综合征型先天性心脏病的研究设计极有帮助,有助于了解是什么原因导致了这些疾病。”

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 楼主| 发表于 2016-8-12 14:58:56 | 显示全部楼层
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