鉴定糖尿病视网膜病变风险的遗传变异 应用极端表型中的外体序列测序
Juan C Zenteno1,2,3, Oscar F Chacón-Camacho1,4, Vianey Ordoñez-Labastida1,3,5
1Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
BioMed research international
|January 22, 2024
概括
这项研究在墨西哥人口中确定了与糖尿病视网膜病变 (DR) 相关的罕见拼接变体. 在KIR2DS4中发现了一种保护性变异,这表明DR发展中的种族特异性遗传因素.
科学领域:
- 遗传学 是一个遗传学.
- 眼科医生 眼科 眼科
- 人口健康 人口健康
背景情况:
- 糖尿病视网膜病变 (DR) 的风险因种族而异,需要对代表性不足的人群进行基因变异分析.
- 墨西哥人口被研究以确定与DR风险相关的遗传变异.
研究的目的:
- 在墨西哥人口中识别与糖尿病视网膜病变 (DR) 风险相关的遗传变异.
- 分析DR病例和对照群之间罕见变异频率的差异.
主要方法:
- 一项病例控制研究,涉及60名2型糖尿病 (T2DM) 患者 (30名患有增殖性DR,30名没有DR).
- 进行了外基因组测序,并比较了169个DR相关基因中的罕见变异和变异的频率.
主要成果:
- 在罕见的误解和拼接变体中发现了统计学上显著的差异,特别是那些发生不止一次的变体.
- 在具有预测致病性的罕见误解变异中观察到显著差异 (p = 0.0035).
- 在之前已识别的DR相关基因中,多次发现了8种变异;KIR2DS4 p.Pro234Ser变异显示出保护作用 (OR = 0.04).
结论:
- 在增殖性DR患者中观察到的罕见拼接接受者/捐赠者变体的丰富.
- 一种潜在的保护性变异,KIR2DS4 p.Pro234Ser,被确定.
- 结果支持该群体中以前识别的8个DR相关基因的复制.
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