在患有先天性心脏病的患者中,横向性缺陷的患病率
Xiao-Hui Xie1,2, Heng Gu1,2, Zhuang-Zhuang Yuan2,3
1Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, China.
Journal of human genetics
|June 4, 2025
概括
先天性心脏病 (CHD) 与侧面性缺陷有关,特别是在复杂的情况下. 整体外因子测序确定了与这些疾病相关的已知和新型基因.
科学领域:
- 医学遗传学 医学遗传学
- 发展生物学 发展生物学
- 心脏病学 心脏病学
背景情况:
- 先天性心脏病 (CHD) 影响大约1%的新生儿.
- 侧面性缺陷,如 situs inversus 和 heterotaxy,在心脏病患者中更频繁地发生.
- 关于带有横向性缺陷的CHD遗传基础的全面研究是有限的.
研究的目的:
- 为了确定一大批心血管疾病患者中横向性缺陷的患病率.
- 调查特定复杂的CHD表型与横向性缺陷之间的关联.
- 使用全外体序列测序,识别与心脏病和横向性缺陷相关的遗传变异.
主要方法:
- 对18781名心脏病患者的回顾性分析,以确定横向性缺陷.
- 二元逻辑回归用于评估CHD表型和横向性缺陷之间的关联.
- 在121名患有横向性缺陷的CHD患者身上进行全外体测序 (WES).
主要成果:
- 1.1%的心血管疾病患者表现出侧面性缺陷 (总相反位置:0.4%,模两可的位置:0.7%).
- 侧面性缺陷在复杂心脏病 (5.4%) 中比简单心脏病 (0.4%) 更为普遍.
- 单心室单心室 (SA+SV) 与侧面性缺陷 (OR=48.23) 有着强烈的关联.
- 在13.2%的患者中,WES确定了致病变体,包括已知基因 (例如ZIC3,NKX2-5) 和新型候选基因.
结论:
- 侧面性缺陷与心脏病显著相关,特别是复杂的形式,如SA + SV.
- 基因分析揭示了既有和新的基因候选人,这些候选人有助于带有横向性缺陷的心脏病.
- 这项研究增强了对心血管疾病和侧面性异常的遗传病因学的理解.
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