肠道真菌与人类遗传变异和疾病风险有关
Emily P Van Syoc1,2, Emily R Davenport1,2, Seth R Bordenstein1,2,3
1One Health Microbiome Center, Huck Institutes of the Life Sciences, The Pennsylvania State University, University Park, Pennsylvania, United States of America.
PLoS biology
|September 2, 2025
概括
人类遗传学会影响肠道真菌的组成. 这项研究确定了与真菌繁多相关的遗传变异,揭示了肠道酵母,T-cadherin基因变异和心血管疾病风险之间的联系.
科学领域:
- 人类遗传学
- 微生物组研究
- 菌群学
背景情况:
- 肠道微生物群对健康和疾病的作用已得到充分证实,主要关注细菌.
- 人类遗传学对肠道菌群 (真菌) 的影响在很大程度上仍未被探索.
- 了解宿主与微生物之间的相互作用对于破译疾病病因至关重要.
研究的目的:
- 进行第一个全基因组关联研究 (GWAS),以确定影响肠道真菌相对丰富性的人类遗传位置.
- 研究人类肠道中遗传变异与特定真菌种群之间的关联.
- 探索肠道菌群遗传与心血管疾病等慢性疾病之间的潜在联系.
主要方法:
- 全基因组关联研究 (GWAS) 来识别与真菌相关的变体 (FAV).
- 对9种不同的真菌类的遗传关联进行分析.
- 基因数据与基因表达数据的整合 (真菌相关表达量化特征位点).
- 孟德尔的两个样本随机分析以评估因果关系.
主要成果:
- 在7个染色体中发现148个与肠道真菌丰富相关的FAV.
- 在编码蛋白质的基因中发现了几个FAV,包括PTPRC,ANAPC10,NAV2和CDH13.
- 发现肠道酵母和CDH13的遗传变异之间存在显著的联系.
- 卡萨克斯坦的丰富性与心血管疾病风险增加之间存在因果关系.
结论:
- 人类遗传学在塑造肠道菌群组成方面发挥着重要作用.
- 基因变异,特别是在CDH13中,与特定的肠道真菌如Kazakhstania有关.
- 这些发现揭示了宿主遗传,肠道真菌和心血管疾病之间的新联系,扩大了对人与微生物相互作用的理解.
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