title: Genetic polymorphism of LDLR (rs688) is associated with primary intracerebral hemorrhage.
abstract: 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.
authors.forename: Jiann-Der
authors.initials: JD
authors.lastname: Lee
authors.forename: Kuang-Ming
authors.initials: KM
authors.lastname: Hsiao
authors.forename: Tsong-Hai
authors.initials: TH
authors.lastname: Lee
authors.forename: Ya-Wen
authors.initials: YW
authors.lastname: Kuo
authors.forename: Yen-Chu
authors.initials: YC
authors.lastname: Huang
authors.forename: Huan-Lin
authors.initials: HL
authors.lastname: Hsu
authors.forename: Ya-Hui
authors.initials: YH
authors.lastname: Lin
authors.forename: Chih-Ying
authors.initials: CY
authors.lastname: Wu
authors.forename: Ying-Chih
authors.initials: YC
authors.lastname: Huang
authors.forename: Meng
authors.initials: M
authors.lastname: Lee
authors.forename: Hsin-Ta
authors.initials: HT
authors.lastname: Yang
authors.forename: Chia-Yu
authors.initials: CY
authors.lastname: Hsu
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital at Chiayi, and Chang Gung University, Taiwan, No.6, W. Sec., Jiapu Rd., Puzi City, Chiayi County 613, Taiwan (R.O.C). jdlee540908@gmail.com.
authors.forename: Yi-Ting
authors.initials: YT
authors.lastname: Pan
mesh_terms: D000328:Adult; D000368:Aged; D002543:Cerebral Hemorrhage / Q000175:diagnosis / Q000235:genetics*; D005169:Factor VIII / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011973:Receptors, LDL / Q000378:metabolism*; D015898:Tomography Scanners, X-Ray Computed
chemical_list: C573412:LDLR protein, human; D011973:Receptors, LDL; D005169:Factor VIII