...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of stroke and cerebrovascular diseases: The official journal of National Stroke Association >The Genetic Landscape of Cerebral Steno-Occlusive Arteriopathy and Stroke in Sickle Cell Anemia
【24h】

The Genetic Landscape of Cerebral Steno-Occlusive Arteriopathy and Stroke in Sickle Cell Anemia

机译：脑筋膜闭塞动脉病和脑卒中患者中风的遗传景观

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Sickle cell disease (SCD) is one of the most common autosomal recessive diseases in humans, occurring at a frequency of 1 in 365 African-American and 1 in 50 sub-Saharan African births. Despite progress in managing complications of SCD, these remain a major health burden worldwide. Stroke is a common and serious complication of SCD, most often associated with steno-occlusive cerebral arteriopathy, but little is known about its pathogenesis. Transcranial Doppler ultrasonography is currently the only predictive test for future development of stroke in patients with sickle cell anemia and is used to guide preventative treatment. However, transcranial Doppler ultrasonography does not identify all patients at increased risk for stroke, and progressive arteriopathy may occur despite preventative treatment. While sibling studies have shown a strong genetic contribution to the development of steno-occlusive arteriopathy (SOA) in SCD, the only genome-wide association study compared a relatively small cohort of 177 patients with stroke to 335 patients with no history of stroke. This single study detected variants in only 2 genes,ENPP1andGOLGB1, and only one of these was confirmed in a subsequent independent study. Thus, the underlying genes and pathogenesis of SOA in SCD remain poorly understood, greatly limiting the ability to develop more effective preventive therapies. Dissecting the molecular causes of stroke in SCD will provide valuable information that can be used to better prevent stroke, stratify risk of SOA, and optimize personalized medicine approaches.
机译：镰状细胞疾病（SCD）是人类最常见的常常血型隐性疾病之一，在365名非洲裔美国人和50个撒哈拉以南非洲分娩中发生的频率为1。尽管管理SCD的并发症方面取得了进展，但这些仍然是全世界的主要健康负担。中风是SCD的常见和严重并发症，大多数常伴与狭窄闭塞性脑动脉病有关，但对其发病机制几乎没有着名。经颅多普勒超声检查目前是镰状细胞贫血患者未来卒中未来发展的预测测试，并用于指导预防性治疗。然而，经颅多普勒超声检查不识别所有患者的中风的风险增加，并且尽管预防性治疗可能会发生渐进式动脉病变。虽然兄弟姐妹的研究对SCD中的狭窄闭塞动脉病变（SOA）的发展具有强烈的遗传贡献，但唯一的基因组关联研究比较了177名患者的相对较小的177例卒中患者，而335名没有中风病史。这种单一的研究检测到仅2基因的变体，ENPP1ANDGOLGB1，并且在随后的独立研究中只证实了其中一个。因此，SCD中SOA的潜在基因和发病机制仍然明显，极大地限制了开发更有效的预防疗法的能力。解剖SCD中风的分子原因将提供有价值的信息，可用于更好地防止中风，分层SOA的风险，并优化个性化医学方法。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号