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风险等位基因频率分析及单核苷酸多态性与前列腺癌风险预测。

Risk Allele Frequency Analysis and Risk Prediction of Single-Nucleotide Polymorphisms for Prostate Cancer.

机构信息

Division of Oncology, Department of Internal Medicine, Chung-Ang University, College of Medicine, Seoul 06974, Korea.

Department of Dermatology, Inha University School of Medicine, Incheon 22212, Korea.

出版信息

Genes (Basel). 2022 Nov 5;13(11):2039. doi: 10.3390/genes13112039.

DOI:10.3390/genes13112039
PMID:36360276
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9689911/
Abstract

The incidence of prostate cancer (PCa) varies by ethnicity. This study aimed to provide insights into the genetic cause of PCa, which can result in differences in incidence among individuals of diverse ancestry. We collected data on PCa-associated single-nucleotide polymorphisms (SNPs) from a genome-wide association study catalog. Fisher's exact tests were used to analyze the significance of enrichment or depletion of the effect on the allele at a given SNP. A network analysis was performed based on PCa-related SNPs that showed significant differences among ethnicities. The SNP-based polygenic risk score (PRS) was calculated, and its correlation with PCa incidence was evaluated. European, African, and East Asian populations had different heatmap patterns. Calculated PRS from the allele frequencies of PCa was the highest among Africans, followed by Europeans, and was the lowest among East Asians. PRS was positively correlated with the incidence and mortality of PCa. Network analysis revealed that , , and are genes related to ethnic differences in PCa. The incidence and mortality of PCa showed a strong correlation with PRS according to ethnicity, which may suggest the effect of genetic factors, such as the gene, on PCa pathogenesis.

摘要

前列腺癌(PCa)的发病率因种族而异。本研究旨在深入了解 PCa 的遗传原因,这可能导致不同祖先背景的个体发病率存在差异。我们从全基因组关联研究目录中收集了与 PCa 相关的单核苷酸多态性(SNP)数据。使用 Fisher 精确检验分析了给定 SNP 上等位基因效应的富集或缺失的显著性。根据在不同种族之间表现出显著差异的与 PCa 相关的 SNP 进行了网络分析。计算了基于 SNP 的多基因风险评分(PRS),并评估了其与 PCa 发病率的相关性。欧洲、非洲和东亚人群的热图模式不同。根据等位基因频率计算的 PRS ,非洲人最高,其次是欧洲人,东亚人最低。PRS 与 PCa 的发病率和死亡率呈正相关。网络分析显示, 、 、 和 是与 PCa 种族差异相关的基因。根据种族,PCa 的发病率和死亡率与 PRS 呈强相关性,这可能表明遗传因素(如 基因)对 PCa 发病机制的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f3/9689911/8b2d6154d90c/genes-13-02039-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f3/9689911/720da8cdf8c1/genes-13-02039-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f3/9689911/113687dc373e/genes-13-02039-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f3/9689911/058139cd964b/genes-13-02039-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f3/9689911/b3cfe3140ec5/genes-13-02039-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f3/9689911/8b2d6154d90c/genes-13-02039-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f3/9689911/720da8cdf8c1/genes-13-02039-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f3/9689911/113687dc373e/genes-13-02039-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f3/9689911/058139cd964b/genes-13-02039-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f3/9689911/b3cfe3140ec5/genes-13-02039-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f3/9689911/8b2d6154d90c/genes-13-02039-g005.jpg

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Genes (Basel). 2021 Sep 28;12(10):1530. doi: 10.3390/genes12101530.
3
Analysis of risk allele frequencies of single nucleotide polymorphisms related to open-angle glaucoma in different ethnic groups.
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BMC Med Genomics. 2021 Mar 16;14(1):80. doi: 10.1186/s12920-021-00921-2.
4
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BMC Ophthalmol. 2021 Feb 22;21(1):97. doi: 10.1186/s12886-021-01830-9.
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Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer.胚系 BRCA2 与 ATM 改变前列腺癌的同源重组缺陷(HRD)评分。
Mod Pathol. 2021 Jun;34(6):1185-1193. doi: 10.1038/s41379-020-00731-4. Epub 2021 Jan 18.
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