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致病变体在日本糖尿病病患者的流行率:一项描述性研究

Toyohiro Hashiba¹, Yuka Sugawara¹, Yosuke Hirakawa¹

¹Division of Nephrology and Endocrinology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Journal of diabetes investigation

|April 8, 2025

概括

罕见的致病变体影响日本糖尿病病 (DKD). 全基因组分析在34.1%的患者中发现异合体变异,这表明种族差异和数据库更新的重要性.

科学领域:

遗传学是一个遗传学.
腎臟病學 (nephrology) 是一種醫學專業.
基因组学就是基因组学.

背景情况:

糖尿病病 (DKD) 是2型糖尿病的主要并发症.
罕见病原性变异在DKD病原性中的作用尚未完全理解.
之前对DKD病原性变异的研究主要集中在高加索人群中.

研究的目的:

通过全基因组测序来调查日本DKD患者中脏相关的致病变异的流行率.
描述携带这些变异的DKD患者的特征.
探索变种流行中的潜在种族差异.

主要方法:

在79名患有DKD的日本参与者身上进行了全基因组测序.
随着GATK最佳实践的推行,进行了变异分析,专注于790个与脏和生殖尿路疾病相关的基因.
使用美国医学遗传学学院的标准定义了致病变体,包括异合体和同合体的分类.

主要成果:

在27名参与者 (34.1%) 中发现了异性致病变体,比之前报告的更高的患病率.
没有检测到 homozygous 致病变体.
鉴定出的变异与质细胞病 (23.7%),管管间疾病 (36.8%),囊性疾病/阴囊病 (10.5%) 和其他疾病 (28.9%) 相关. 在7个特定基因的10名患者 (12.7%) 中发现了诊断变异.

结论:

在日本的DKD患者中,很大一部分携带与脏相关的异合致病原体变体.
研究结果表明,DKD的遗传结构可能存在种族差异.
数据库更新对于准确的变种检测和了解DKD遗传学至关重要.

关键词:

糖尿病脏疾病糖尿病脏疾病罕见的致病性变体罕见的致病性变体整个基因组序列的测序

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