一项全基因组关联研究在芬兰和爱沙尼亚妇女中发现了三个与多囊卵巢综合症风险增加有关的遗传变异。
其中两个确定的变体影响CHEK2基因，该基因已知在细胞质量控制和修复受损DNA方面发挥关键作用，而且还与卵巢储备和绝经年龄的差异有关。
"爱沙尼亚塔尔图大学基因组学研究所副教授Triin Laisk博士说："这种对多囊卵巢综合症患者的遗传物质进行测序的技术，例如，与没有这种疾病的妇女进行比较，使我们能够确定她们在感兴趣的性状组中有更频繁的序列变化。
这项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23.3万多名妇女的基因数据。共有3609名多囊卵巢综合症病例从国家登记处被确认，所有其他229,788名妇女被指定为对照。首先利用来自FinnGen研究的141 355名妇女的数据进行了全基因组关联研究，然后利用来自爱沙尼亚生物库的92 042名妇女的单独数据集验证了研究结果。
发表在该杂志上的结果包括CHEK2基因的两个因果变体和MYO10X基因的一个变体。
以前的研究已经确定了与多囊卵巢综合症有关的其他基因。然而，这项研究的作者认为，使用特定人群的数据可以带来进一步的见解。
淄博a卵b怀机构
1、作者指出，芬兰人口中有大量的遗传变体，而这些变体在欧洲其他地区出现的频率很低。爱沙尼亚人口被认为在遗传上与芬兰人口最接近。
2、"由于人口历史的不同，芬兰和爱沙尼亚人口中某些变体的富集提供了一个独特的机会，在只关注这些人口的情况下检测与多囊卵巢综合症相关的新的罕见遗传变体，"该研究的博士生和共同第一作者Nat lia Pujol Gualdo说。该研究的第一作者。
3、"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 to increase risk of PCOS
A genome-wide association study has identified three genetic variants associated with an increased risk of polycystic ovary syndrome in Finnish and Estonian women.
CHEK2 is a gene known to play a key role in cell quality control and repair of damaged DNA, and is also associated with ovarian reserve and differences in age at menopause.
This technique compares the genetic material sequence of women with PCOS with that of women without the disease and allows identification of sequence changes that are more common in the group with the trait of interest," said Triin Laisk, Ph.D., associate professor at the Institute of Genomics at the University of Tartu in Estonia.
The study, conducted by researchers at the University of Tartu and the University of Oulu in Finland, analyzed genetic data from more than 233,000 women. 3609 PCOS cases were identified from national registries, and all other 229 788 women were designated as controls. First, a genome-wide association study was performed with data from 141 355 women from the FinnGen study, and then these results were validated with a separate data set of 92 042 women from the Estonian biobank.
The results published in the journal Human Reproduction include two causal variants in the CHEK2 gene and one in the MYO10X gene.
However, the authors of this study believe that the use of population-specific data could lead to further insights.
The Finnish population has a large number of genetic variants that are found at low frequencies in the rest of Europe, the authors note. The Estonian population is likely to be genetically closest to the Finnish population.
Because of the differences in demographic history, the enrichment of some variants in the Finnish and Estonian populations provided a unique opportunity to detect new rare genetic variants associated with PCOS when focusing only on these populations, said Nat lia Pujol Gualdo, PhD, co-author of the study.
We hope this study will serve as the basis for further experiments to clarify the interplay," Dr. Laisk said. "At the same time, this study underscores the importance of population-specific biobanking initiatives as a unique means of exploring the genetic landscape of complex diseases.
It is not yet known whether these genetic variants are also found in other ethnic groups, but they contribute to our overall understanding of the genetic control of PCOS.