生物信息学和基因组分析确定,载脂蛋白E基因(APOE)rs7412位点的C等位基因为限制人类极端长寿的最主要变异。

Bioinformatic and genomic analysis identifies C allele of APOE rs7412 as the most prominent variant limiting extreme human longevity.

作者信息

Satria Rahmat Dani, Sukorini Usi, Lesmana Mohammad Hendra Setia, Muhammad Irham Lalu, Adikusuma Wirawan, Rahmawati Hegaria, Harahap Nur Imma Fatimah, Rinastiti Pranindya, Wardhana Donytra Arby, Sianipar Osman, Ninggar Gisca Ajeng Widya, Sofro Zaenal Muttaqien, Budi Nova Yuli Prasetyo, Nanda Josephine Diony, Hasan Faizul, Rahardjo Tri Budi W, Lin Chiou-Feng

机构信息

Department of Clinical Pathology and Laboratory Medicine, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, 55281, Indonesia.

Integrated Laboratory Installation, Dr. Sardjito General Hospital, Yogyakarta, 55281, Indonesia.

出版信息

Sci Rep. 2025 Jul 1;15(1):21688. doi: 10.1038/s41598-025-02848-5.

Abstract

The genetic factors influencing human longevity have long been a subject of curiosity, linking ancient historical records with modern genomic research. This study seeks to identify key genetic contributors to lifespan by integrating genome-wide association studies (GWAS) with functional annotations across multiple biological databases. Among our findings, APOE emerged as one of the most prominent gene, with the rs7412-C variant showing a strong association with reduced lifespan due to its widely distributed across global populations. Additionally, we observed that rs449647-A and rs405509-T were more frequently found in regions with longer life expectancies, such as Asia, and were less common in African populations, suggesting a possible genetic influence on regional lifespan variations. These findings provide a basis for future research into the genetic mechanisms underlying aging and may contribute to the development of strategies to promote healthy aging.

摘要

影响人类长寿的遗传因素长期以来一直是人们好奇的话题,它将古代历史记录与现代基因组研究联系起来。本研究旨在通过整合全基因组关联研究(GWAS)与多个生物数据库中的功能注释,来确定影响寿命的关键遗传因素。在我们的研究结果中,APOE是最突出的基因之一,rs7412-C变体由于在全球人群中广泛分布,与寿命缩短密切相关。此外,我们观察到rs449647-A和rs405509-T在预期寿命较长的地区(如亚洲)更为常见,而在非洲人群中则较少见,这表明可能存在遗传因素对区域寿命差异的影响。这些发现为未来研究衰老的遗传机制提供了基础,并可能有助于制定促进健康衰老的策略。

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