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发现基因变异会增加多囊卵巢综合征(PCOS)的风险

游海 2021-12-28 11:52 试管之家 查看: 53 评论: 0

摘要:   一项全基因组关联研究确定了三种与芬兰和爱沙尼亚女性多囊卵巢综合征(PCOS)风险增加相关的遗传变异。  确定的这些变体中的两个影响CHEK2基因。CHEK2是一种已知在细胞质量控制和受损DNA修复中发挥关键作用的基 ...
  一项全基因组关联研究确定了三种与芬兰和爱沙尼亚女性多囊卵巢综合征(PCOS)风险增加相关的遗传变异。

  确定的这些变体中的两个影响CHEK2基因。CHEK2是一种已知在细胞质量控制和受损DNA修复中发挥关键作用的基因,这也与卵巢储备和更年期年龄差异有关。

  “这种技术的遗传物质(DNA)序列在PCOS患者进行比较,例如,对妇女没有条件,并允许它们与感兴趣的性状的组中更加频繁序列的变化的标识,”所述Triin Laisk博士,爱沙尼亚塔尔图大学基因组学研究所副教授。

  该研究由塔尔图大学和芬兰奥卢大学的研究人员进行,分析了超过233,000名女性的基因数据。从国家登记册中总共确定了3609例PCOS病例,所有其他229,788名女性被指定为对照。首先使用来自FinnGen研究的141,355名女性的数据进行了全基因组关联研究,然后使用来自爱沙尼亚生物库的92,042名女性的单独数据集验证了这些发现。

  发表在《人类生殖》杂志上的研究结果包括CHEK2基因中的两种因果变异和MYO10X基因中的一种。

  之前的研究发现了与PCOS相关的其他基因。然而,这项研究的作者认为,使用特定人群的数据可以帮助提供进一步的见解。

  作者指出,芬兰人口中有大量遗传变异,这些变异在欧洲其他地区以低频率发生。爱沙尼亚人口被认为在基因上与芬兰人口最接近。

  “由于人口历史的差异,芬兰和爱沙尼亚人群中某些变异的富集提供了一个独特的机会,当只关注这些人群时,可以捕获与PCOS相关的新型罕见遗传变异,”博士生、共同第一人Natàlia Pujol Gualdo说。该研究的作者。

  “需要进一步的研究来探索CHEK2变异在PCOS中的作用,我们希望这项研究可以作为进一步实验的基础,以阐明它们之间的相互作用,”Laisk博士说。“与此同时,这项研究强调了针对特定人群的生物库计划作为探索复杂疾病遗传景观的独特手段的重要性”。

  目前尚不清楚这些遗传变异是否会在其他种族中发现,但它们有助于我们全面了解PCOS的遗传控制。

  以下原文:

  Genetic variants discovered that increase risk of PCOS

  A genome-wide association study has identified three genetic variants associated with increased risk of polycystic ovary syndrome(PCOS)in Finnish and Estonian women.

  Two of these variants identified affect the CHEK2 gene.CHEK2 is a gene known to play a key role in cell quality control and the repair of damaged DNA that has also been linked to ovarian reserve and differences at age of menopause.

  'This technique compares the genetic material(DNA)sequence in women with PCOS,for instance,to women without the condition and allows the identification of sequence changes which are more frequent in the group with the trait of interest,'said Dr Triin Laisk,associate professor at the Institute of Genomics at the University of Tartu in Estonia.

  Conducted by researchers at University of Tartu and the University of Oulu in Finland,the study analysed the genetic data of over 233,000 women.A total of 3609 PCOS cases were identified from national registers with all other 229,788 women designated controls.First a genome wide association study was carried out using data on 141,355 women from the FinnGen study,and then these findings were validated using a separate dataset of 92,042 women from the Estonian biobank.

  Published in the journal Human Reproduction,the findings included two causal variants in the CHEK2 gene and one on the MYO10X gene.

  Previous research has discovered other genes associated with PCOS.The authors of this study believe however that using population-specific data could help provide further insights.

  The Finnish population has a high number of genetic variants that occur at a low frequency across the rest of Europe,the authors note.The Estonian population is thought to be genetically closest to the Finnish population.

  'Due to differences in demographic history,the enrichment of some variants in Finnish and Estonian populations provided a unique opportunity to capture novel rare genetic variants associated with PCOS when focusing only on these populations,'said Natàlia Pujol Gualdo,PhD student and co-first author of the study.

  'Further research is needed to explore the role of CHEK2 variation in PCOS and we hope this study serves as a base for further experiments that can clarify their interplay,'said Dr Laisk.'At the same time,this study highlights the importance of population-specific biobank initiatives as unique means to seek into the genetic landscape of complex diseases'.

  It is not yet known whether these genetic variants will be found in other ethnic groups,but they contribute to our overall understanding of the genetic control of PCOS.

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