LRRTM3 遗传变异,rs1925575 和 rs1925608 导致自闭症谱系障碍 特征严重程度:在印度调查中的观察
Nilanjana Dutta1, Sharmistha Saha1, Mahasweta Chatterjee1
1Manovikas Biomedical Research and Diagnostic Centre, Manovikas Kendra, 482 Madudah, Plot I-24, Sector J, EM Bypass, Kolkata, West Bengal 700107, India.
International journal of molecular and cellular medicine
|July 15, 2024
概括
LRRTM3中的遗传变异,特别是rs1925575和rs1925608,与印度受试者的自闭症谱系障碍 (ASD) 有关. 这些变异影响ASD特征的严重程度,特别是在女性身上.
科学领域:
- 神经遗传学 神经遗传学
- 自闭症谱系障碍研究研究
- 人类遗传学 人类遗传学
背景情况:
- 含有白丰富的重复 (LRR) 表面蛋白质对于突触形成至关重要.
- 异常的LRR蛋白与突触功能障碍有关,这是自闭症谱系障碍 (ASD) 的标志.
- LRR跨膜3 (LRRTM3) 基因变异以前在高加索人群中与自闭症相关.
研究的目的:
- 调查两种LRRTM3遗传变异 (rs1925575和rs1925608) 与印度队列中ASD的关联.
- 分析这些变体对ASD严重程度和特定行为特征的影响.
- 在ASD中探索LRRTM3变异的潜在性别特异性影响.
主要方法:
- 在1048名印度受试者 (270名ASD试验者,428名家长,350名对照者) 中对LRRTM3变体rs1925575和rs1925608进行基因型鉴定.
- 聚合酶链反应 (PCR) 放大和限制酶消化用于基因型分析.
- 基于人口和基于家庭的关联分析,包括使用童年自闭症评分表2-标准测试 (CARS2-ST) 评估ASD严重程度.
主要成果:
- 在ASD试验者中观察到rs1925608和rs1925575"CC"基因型和C-C亚型的更高频率 (P=0.001).
- 父母分析表明,父亲的rs1925575'T'频率更高 (P=0.01) 和"C"等位基因的偏向性父亲传播 (P=0.03).
- 特定的基因型与增加的"活动水平" (rs1925608"CC") 和"与人有关的"得分 (rs1925575"TC") 相相关,对女性受试者的特征有显著影响.
结论:
- 这项研究提供了第一个证据,证明LRRTM3遗传变异与印度人口中的ASD相关.
- LRRTM3变体rs1925575和rs1925608影响特定的自闭症相关特征,包括活动水平和社交互动.
- 这些发现表明LRRTM3在自闭症发病过程中的潜在作用,并突出了性别特异性对特征严重性的影响.
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