基于群体基因组数据库的东亚人和韩国人种系CHEK2变异的患病率

IF 2.9
Jong Eun Park, Taeheon Lee, Eun Hye Cho, Mi-Ae Jang, Dongju Won, Boyoung Park, Jung-Sook Ha, Do Hoon Kim, Kyoung-Bo Kim, Chang-Seok Ki, Sun-Young Kong
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引用次数: 0

摘要

检查点激酶2 (CHEK2)编码一种丝氨酸/苏氨酸激酶,通过ATM-Chk2-p53信号参与DNA损伤反应。其维持基因组稳定性的功能将其归类为肿瘤抑制因子。CHEK2的杂合种系致病变异与乳腺癌和前列腺癌的终生风险适度增加有关。本研究评估了CHEK2变异在全球的流行程度,重点关注东亚和韩国人群,这些人群的数据仍然有限。我们分析了来自基因组聚集数据库(gnomAD)的125748个外显子组,其中包括9197个东亚人,以及来自韩国变体档案(Korean Variant Archive)的5305个个体、Korea4K的3617个个体和韩国参考基因组数据库(Korean Reference Genome Database)的1722个个体的额外数据。所有CHEK2变异根据美国医学遗传学、基因组学和临床基因组资源学院制定的指南进行分类。CHEK2变异的全球患病率为0.76%,其中芬兰人群最高(2.04%),东亚人群最低(0.11%)。通过整合韩国基因组数据库和gnomAD的数据,总共有12553名韩国人,韩国人口的总体患病率估计为0.13%。这些发现代表了使用多个特定人群基因组数据集对韩国人CHEK2变异频率的首次综合估计。该结果为未来的研究提供了有益的参考,并强调了区域特异性基因研究为咨询和遗传性癌症风险管理提供信息的必要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Prevalence of germline CHEK2 variants in East Asians and Koreans based on population genomic databases.

Checkpoint kinase 2 (CHEK2) encodes a serine/threonine kinase involved in the DNA damage response through ATM-Chk2-p53 signaling. Its function in maintaining genomic stability classifies it as a tumor suppressor. Heterozygous germline pathogenic variants in CHEK2 are associated with a moderate increase in lifetime risk of breast and prostate cancer. This study assessed the prevalence of CHEK2 variants globally, with a focus on East Asian and Korean populations, for which data have remained limited. We analyzed 125,748 exomes from the Genome Aggregation Database (gnomAD), including 9,197 East Asians, along with additional data from 5,305 individuals in the Korean Variant Archive, 3,617 in Korea4K, and 1,722 in the Korean Reference Genome Database. All CHEK2 variants were classified according to guidelines established by the American College of Medical Genetics, Genomics, and Clinical Genome Resources. The global prevalence of CHEK2 variants was 0.76%, with the highest observed in the Finnish population (2.04%) and the lowest in East Asians (0.11%). By integrating data from Korean genomic databases and gnomAD, representing a total of 12,553 Korean individuals, the overall prevalence in the Korean population was estimated at 0.13%. These findings represent the first integrated estimate of CHEK2 variant frequency in Koreans using multiple population-specific genomic datasets. The results provide a useful reference for future studies and highlight the need for region-specific genetic research to inform counseling and hereditary cancer risk management.

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