在早期检查计划中,使用基因组基因风险评分对新生儿进行1型糖尿病查
Nathan C Gaddis1, Katerina S Kucera1, Heidi L Cope1
1GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.
American journal of human genetics
|March 6, 2026
概括
遗传风险评分 (GRSs) 可以识别患有1型糖尿病 (T1D) 高风险的新生儿. 新生儿查计划中的全基因组测序证明了T1D GRS计算和返回的可行性,有助于早期风险分层.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 自免疫性疾病 自免疫性疾病
背景情况:
- 1型糖尿病 (T1D) 是一种严重的儿童自身免疫性疾病,具有严重的并发症.
- 遗传风险评分 (GRSs) 对早期T1D风险识别有希望.
- 在美国,将GRS整合到新生儿查 (NBS) 中仍然在很大程度上没有得到解决.
研究的目的:
- 评估使用全基因组测序 (WGS) 计算和返回T1D GRS在现实世界NBS程序中的可行性.
- 评估T1D GRSs对新生儿早期风险分层的有用性.
- 确定基于人口的GRS查方面的挑战和改进领域.
主要方法:
- 全基因组测序 (WGS) 在自愿的NBS研究计划 (Early Check,北卡罗来纳州) 中对新生儿的干血点样进行了测序.
- 一个经过验证的67种T1D GRS2模型被用于计算预测T1D风险.
- 结果被返回给家长,新生儿有高遗传风险被提供岛屿自身抗体测试.
主要成果:
- 在1742名选用T1D查的新生儿中,92%的新生儿获得了有效的GRS2结果.
- 3.9%被归类为对T1D风险的高度关注,7.4%被归类为对T1D风险的中度关注.
- 在高度关注的组中,41名婴儿中有2名的自抗体检测结果呈阳性,但在12个月后,两者都恢复为阴性.
- 在非洲祖先的新生儿中观察到较低的GRS2得分,这表明需要祖先特定的模型.
结论:
- 使用WGS进行基于人口的T1D GRS查在NBS框架内是可行的.
- GRS查支持T1D的早期生命风险分层.
- 需要进一步的研究来改善交叉祖先的性能,并进行T1D GRS查的长期验证.
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