酒精使用障碍多基因评分与家族史和ADH1B相比
Dongbing Lai1, Michael Zhang1, Marco Abreu1
1Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.
JAMA network open
|January 9, 2025
概括
多基因分数 (PGS) 可以识别患有酒精使用障碍 (AUD) 高风险的个人. 这种遗传风险评估工具显示了针对欧洲祖先群体个性化预防和干预策略的潜力.
科学领域:
- 遗传学 是一个遗传学.
- 精神病学是一个精神病学.
- 公共卫生 公共卫生
背景情况:
- 酒精使用障碍 (AUD) 构成了重大的公共卫生挑战.
- 早期识别有风险的个体对于有效的预防和干预至关重要.
- 多基因分数 (PGS) 为评估对AUD等复杂疾病的遗传责任提供了一个潜在的方法.
研究的目的:
- 评估多基因分数 (PGS) 的准确性和概括性,以预测酒精使用障碍 (AUD) 风险.
- 为了比较PGS的预测性能与传统的风险因素,如家族史和ADH1B变体.
- 评估PGS在欧洲祖先的不同人群中的实用性.
主要方法:
- 采用了2个阶段的遗传关联研究设计.
- 多基因分数 (PGS) 用来自大型全基因组关联研究的单核酸变异来计算.
- 表现最好的PGS在独立的队列 (我们所有人研究计划和印第安纳生物银行) 中得到验证,并与家族史和ADH1B进行了比较.
- 根据DSM-IV/DSM-5标准或ICD-9/ICD-10代码进行AUD诊断.
主要成果:
- 在最高的PGS类别 (前5%) 的个人与一般人群相比,AUD发展的几率大约是两倍 (OR,1.96-2.07).
- 最低的PGS类别 (底部5%) 的人患AUD的几率约为一半 (OR,0.53-0.57).
- PGS的预测性能与家族病史和ADH1B的保护作用相似,男性和女性的准确性相似.
结论:
- 多基因分数 (PGS) 显示出在欧洲血统的个人中评估酒精使用障碍 (AUD) 风险的巨大潜力.
- PGS可以识别高风险和低风险个体,促进有针对性的预防和干预策略.
- 建议在更广泛的一般人群数据集中进行进一步验证,以确认PGS对于AUD风险预测的概括性.
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