Polygenic risk score predicting susceptibility and outcome of benign prostatic hyperplasia in the Han Chinese.

IF 3.8 3区医学 Q2 GENETICS & HEREDITY

Human Genomics Pub Date : 2024-05-22 DOI:10.1186/s40246-024-00619-3

Sheng-Chun Hung, Li-Wen Chang, Tzu-Hung Hsiao, Guan-Cheng Lin, Shian-Shiang Wang, Jian-Ri Li, I-Chieh Chen

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引用次数: 0

Abstract

Background: Given the high prevalence of BPH among elderly men, pinpointing those at elevated risk can aid in early intervention and effective management. This study aimed to explore that polygenic risk score (PRS) is effective in predicting benign prostatic hyperplasia (BPH) incidence, prognosis and risk of operation in Han Chinese.

Methods: A retrospective cohort study included 12,474 male participants (6,237 with BPH and 6,237 non-BPH controls) from the Taiwan Precision Medicine Initiative (TPMI). Genotyping was performed using the Affymetrix Genome-Wide TWB 2.0 SNP Array. PRS was calculated using PGS001865, comprising 1,712 single nucleotide polymorphisms. Logistic regression models assessed the association between PRS and BPH incidence, adjusting for age and prostate-specific antigen (PSA) levels. The study also examined the relationship between PSA, prostate volume, and response to 5-α-reductase inhibitor (5ARI) treatment, as well as the association between PRS and the risk of TURP.

Results: Individuals in the highest PRS quartile (Q4) had a significantly higher risk of BPH compared to the lowest quartile (Q1) (OR = 1.51, 95% CI = 1.274-1.783, p < 0.0001), after adjusting for PSA level. The Q4 group exhibited larger prostate volumes and a smaller volume reduction after 5ARI treatment. The Q1 group had a lower cumulative TURP probability at 3, 5, and 10 years compared to the Q4 group. PRS Q4 was an independent risk factor for TURP.

Conclusions: In this Han Chinese cohort, higher PRS was associated with an increased susceptibility to BPH, larger prostate volumes, poorer response to 5ARI treatment, and a higher risk of TURP. Larger prospective studies with longer follow-up are warranted to further validate these findings.

查看原文本刊更多论文

预测汉族人良性前列腺增生症易感性和预后的多基因风险评分。

背景：鉴于良性前列腺增生症（BPH）在老年男性中的高发病率，确定高危人群有助于早期干预和有效管理。本研究旨在探讨多基因风险评分（PRS）能否有效预测汉族良性前列腺增生症（BPH）的发病率、预后和手术风险：一项回顾性队列研究纳入了台湾精准医疗计划（TPMI）的12474名男性参与者（6237名良性前列腺增生患者和6237名非良性前列腺增生对照者）。基因分型使用 Affymetrix 全基因组 TWB 2.0 SNP 阵列进行。PRS使用PGS001865计算，包括1,712个单核苷酸多态性。逻辑回归模型评估了 PRS 与良性前列腺增生症发病率之间的关系，并对年龄和前列腺特异性抗原 (PSA) 水平进行了调整。研究还考察了PSA、前列腺体积和对5-α还原酶抑制剂（5ARI）治疗的反应之间的关系，以及PRS与TURP风险之间的关系：结果：与最低四分位数（Q1）相比，PRS最高四分位数（Q4）的个体罹患良性前列腺增生症的风险明显更高（OR = 1.51，95% CI = 1.274-1.783，P在这个汉族队列中，PRS越高，前列腺增生症的易感性越高，前列腺体积越大，对5ARI治疗的反应越差，进行TURP手术的风险越高。为了进一步验证这些发现，有必要进行更大规模和更长时间的前瞻性研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Human Genomics GENETICS & HEREDITY-

CiteScore

6.00

自引率

2.20%

发文量

审稿时长

11 weeks

期刊介绍： Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.