对极低出生体重婴儿的神经发育结果不利的遗传倾向 婴儿
Michael W Varner1, Elizabeth A Thom2, C Michael Cotten3
1Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah.
American journal of perinatology
|September 19, 2023
概括
一种SERPINE1的遗传变异与脑 (CP) 或极低出生体重 (ELBW) 婴儿的死亡有关. 这一发现可能有助于识别具有较高神经发育不良结果风险的婴儿.
科学领域:
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
- 新生儿研究新生儿研究
背景情况:
- 极低出生体重 (ELBW) 的婴儿面临脑 (CP) 和发育迟缓的高风险.
- 确定影响ELBW婴儿神经发育结果的遗传因素对于早期干预至关重要.
研究的目的:
- 调查与ELBW婴儿不良神经发育结果相关的遗传变异.
- 为了确定特定的基因和单核酸多态 (SNP) 相关的CP,死亡,或发育迟缓在这个脆弱的人群.
主要方法:
- 在两个ELBW婴儿队列 (发现和复制) 上进行了候选基因关联研究.
- 分析了145个与炎症,血管生成,大脑发育和氧化相关的基因中的1,614个SNP.
- 多变量分析调整为关键的流行病学变量和多重比较.
主要成果:
- 在发现 (p=4.1×10−4) 和复制 (p=0.039) 队列中,SERPINE1基因的一个变异与CP或死亡显著相关.
- SERPINE1基因编码了等离子体激活剂抑制剂 (PAI1) 并参与炎症和凝血.
- 在对1,013名婴儿 (452例,561例对照) 的初步分析后,选择了26个SNP进行复制.
结论:
- 一种特定的SERPINE1基因变异与ELBW婴儿中CP或死亡风险增加有关.
- 这一发现突显了炎症和凝血通路在神经发育结果中的作用.
- 对SERPINE1作用的进一步研究可能会导致针对高风险婴儿的有针对性的预防策略.
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