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跨种族多基因风险评分对台湾人群 2 型糖尿病风险、发病年龄和进展的影响。

Impact of the trans-ancestry polygenic risk score on type 2 diabetes risk, onset age and progression among population in Taiwan.

机构信息

National Center for Geriatrics and Welfare Research, National Health Research Institutes, Zhunan, Taiwan.

Department of Public Health, China Medical University, Taichung, Taiwan.

出版信息

Am J Physiol Endocrinol Metab. 2024 May 1;326(5):E547-E554. doi: 10.1152/ajpendo.00252.2023. Epub 2024 Feb 16.


DOI:10.1152/ajpendo.00252.2023
PMID:38363735
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11376485/
Abstract

Type 2 diabetes (T2D) prevalence in adults at a younger age has increased but the disease status may go unnoticed. This study aimed to determine whether the onset age and subsequent diabetic complications can be attributed to the polygenic architecture of T2D in the Taiwan Han population. A total of 9,627 cases with T2D and 85,606 controls from the Taiwan Biobank were enrolled. Three diabetic polygenic risk scores (PRSs), PRS_EAS and PRS_EUR, and a trans-ancestry PRS (PRS_META), calculated using summary statistic from East Asian and European populations. The onset age was identified by linking to the National Taiwan Insurance Research Database, and the incidence of different diabetic complications during follow-up was recorded. PRS_META (7.4%) explained a higher variation for T2D status. And the higher percentile of PRS is also correlated with higher percentage of T2D family history and prediabetes status. More, the PRS was negatively associated with onset age (β = -0.91 yr), and this was more evident among males (β = -1.11 vs. -0.76 for males and females, respectively). The hazard ratio of diabetic retinopathy (DR) and diabetic foot were significantly associated with PRS_EAS and PRS_META, respectively. However, the PRS was not associated with other diabetic complications, including diabetic nephropathy, cardiovascular disease, and hypertension. Our findings indicated that diabetic PRS which combined susceptibility variants from cross-population could be used as a tool for early screening of T2D, especially for high-risk populations, such as individuals with high genetic risk, and may be associated with the risk of complications in subjects with T2D. Our findings indicated that diabetic polygenic risk score (PRS) which combined susceptibility variants from Asian and European population affect the onset age of type 2 diabetes (T2D) and could be used as a tool for early screening of T2D, especially for individuals with high genetic risk, and may be associated with the risk of diabetic complications among people in Taiwan.

摘要

2 型糖尿病(T2D)在较年轻的成年人中的患病率有所增加,但这种疾病可能未被察觉。本研究旨在确定 T2D 的多基因结构是否可归因于台湾汉族人群的发病年龄和随后的糖尿病并发症。共纳入了来自台湾生物银行的 9627 例 T2D 病例和 85606 例对照。使用来自东亚和欧洲人群的汇总统计数据计算了三种糖尿病多基因风险评分(PRSs),PRS_EAS 和 PRS_EUR,以及跨血统 PRS(PRS_META)。通过与国家台湾保险研究数据库链接确定发病年龄,并记录随访期间不同糖尿病并发症的发生率。PRS_META(7.4%)解释了 T2D 状态的更高变化。PRS 的百分位越高,与 T2D 家族史和糖尿病前期状态的比例也越高。此外,PRS 与发病年龄呈负相关(β=-0.91 岁),且这种相关性在男性中更为明显(β=-1.11 岁与男性和女性分别为-0.76 岁)。糖尿病视网膜病变(DR)和糖尿病足的风险比与 PRS_EAS 和 PRS_META 显著相关。然而,PRS 与其他糖尿病并发症(包括糖尿病肾病、心血管疾病和高血压)无关。我们的研究结果表明,来自跨人群的易感性变异的糖尿病 PRS 可作为 T2D 早期筛查的工具,特别是对于高风险人群,如遗传风险较高的个体,并且可能与 T2D 患者的并发症风险相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c909/11376485/c9a009e92187/e-00252-2023r01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c909/11376485/c9a009e92187/e-00252-2023r01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c909/11376485/c9a009e92187/e-00252-2023r01.jpg

相似文献

[1]
Impact of the trans-ancestry polygenic risk score on type 2 diabetes risk, onset age and progression among population in Taiwan.

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[2]
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[3]
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[4]
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[5]
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[6]
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[7]
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[8]
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[9]
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[10]
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引用本文的文献

[1]
Pathway insights and predictive modeling for type 2 diabetes using polygenic risk scores.

Sci Rep. 2025-8-7

[2]
Clustering-based risk stratification of prediabetes populations: Insights from the Taiwan and UK Biobanks.

J Diabetes Investig. 2025-1

本文引用的文献

[1]
Sex differences in the influence of type 2 diabetes (T2D)-related genes, parental history of T2D, and obesity on T2D development: a case-control study.

Biol Sex Differ. 2023-6-8

[2]
Insight into genetic, biological, and environmental determinants of sexual-dimorphism in type 2 diabetes and glucose-related traits.

Front Cardiovasc Med. 2022-11-24

[3]
The construction of cross-population polygenic risk scores using transfer learning.

Am J Hum Genet. 2022-11-3

[4]
Associations of polygenic risks, depression, and obesity-related traits in Taiwan Biobank.

J Affect Disord. 2023-1-1

[5]
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations.

Genome Med. 2022-6-29

[6]
Cardiorespiratory fitness, genetic susceptibility, inflammation and risk of incident type 2 diabetes: A population-based longitudinal study.

Metabolism. 2022-7

[7]
A Polygenic Score for Type 2 Diabetes Improves Risk Stratification Beyond Current Clinical Screening Factors in an Ancestrally Diverse Sample.

Front Genet. 2022-4-26

[8]
Improving polygenic prediction in ancestrally diverse populations.

Nat Genet. 2022-5

[9]
Polymorphisms of vascular endothelial growth factor-2578C/A rs699947 are risk factors for diabetic retinopathy in type-2 diabetes mellitus patients in Bali, Indonesia.

Biomedicine (Taipei). 2021-6-1

[10]
Large uncertainty in individual polygenic risk score estimation impacts PRS-based risk stratification.

Nat Genet. 2022-1

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