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Current Neurovascular Research


ISSN (Print): 1567-2026
ISSN (Online): 1875-5739

Genetic Polymorphism of LDLR (rs688) is Associated with Primary Intracerebral Hemorrhage

Author(s): Jiann-Der Lee, Kuang-Ming Hsiao, Tsong-Hai Lee, Ya-Wen Kuo, Yen-Chu Huang, Huan-Lin Hsu, Ya-Hui Lin, Chih-Ying Wu, Ying-Chih Huang, Meng Lee, Hsin-Ta Yang, Chia-Yu Hsu and Yi-Ting Pan

Volume 11, Issue 1, 2014

Page: [10 - 15] Pages: 6

DOI: 10.2174/1567202610666131202115038

Price: $65


Intracranial hemorrhage is the third most common cause of cerebrovascular disease. Some polymorphisms that affect clotting factors increase the risk of thrombosis. However, few reports have analyzed the effect of polymorphisms on the hemostatic state in bleeding disorders. The low-density lipoprotein receptor (LDLR) has been shown to contribute to factor VIII (FVIII) homeostasis, which represents a link between LDLR and hemostasis. FVIII plays a pivotal role in the coagulation cascade. Patients with high levels of FVIII are at an increased risk of arterial and venous thrombosis. On the other hand, patients with insufficient FVIII tend to bleed excessively, such as in hemophilia A. In a previous study, analysis of the genetic LDLR variant rs688 provided evidence suggesting that genetic polymorphisms of rs688 are associated with thrombotic cardiovascular diseases. The current study aimed to investigate the potential role of rs688 in primary intracerebral hemorrhage (PICH). This genetic association study was conducted within an isolated Taiwanese population (447 PICH patients and 430 controls). Genotypes C/C and C/T were used as the reference genotypes, and the genotype T/T was found to be associated with a 73% decreased risk of PICH. The preliminary evidence suggests that genetic polymorphisms of LDLR are associated with PICH.

Keywords: Cerebrovascular disease, Genetic association, Intracerebral hemorrhage, LDLR, Single nucleotide polymorphism, Stroke.

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