The Associations of , , , , , and Variants With Leukoaraiosis in Chinese Population.

Leukoaraiosis (LA) is shown as white matter hyperintensities on T2-weighted magnetic resonance imaging brain scans. Together with candidate gene association studies (CGAS), multiple genome-wide association studies (GWAS) have reported large numbers of single nucleotide polymorphisms (SNPs) to be associated with LA in European populations. To date, no replication studies have been reported in independent Chinese samples.

Incidence and risk factors of leukoaraiosis from 4683 hospitalized patients: A cross-sectional study.

Leukoaraiosis (LA) refers to white matter hyperintensities or white matter lesions (WMLs) on magnetic resonance imaging (MRI) scans of the brain; this disease is associated with an increased risk of stroke, dementia, and cognitive decline. The aims of the study are to assess the incidence of LA and its associated risk factors in a Chinese population.A hospital-based cross-sectional study was conducted that included 4683 patients who were 40 years or older.

A Novel Gene Mutation Associated with Familial Cerebral Cavernous Malformation.

Cerebral cavernous malformations (CCMs) are common vascular malformations that predominantly arise in the central nervous system and are mainly characterized by enlarged vascular cavities without intervening brain parenchyma. Familial CCMs (FCCMs) is inherited in an autosomal dominant pattern with incomplete penetrance and variable symptoms. Mutations of three pathogenic genes, , and , were investigated by direct DNA sequencing in a Chinese family with multiple CCM lesions.

CELSR1 Is a Positive Regulator of Endothelial Cell Migration and Angiogenesis.

Cadherin is an epidermal growth factor and laminin-G seven-pass G-type receptor 1 (CELSR1) is a key component of the noncanonical Wnt/planar cell polarity (PCP) pathway that critically regulates endothelial cell proliferation and angiogenesis. In this study, we examined the biological significance of CELSR1 in endothelial cell migration and angiogenesis. For this, we applied both gain-of-function and loss-of-function approaches.

The CELSR1 polymorphisms rs6007897 and rs4044210 are associated with ischaemic stroke in Chinese Han population.

Background: Recently, CELSR1 was identified by genome-wide association studies (GWAS) as a susceptibility gene for ischaemic stroke (IS) in Japanese individuals.

Aim: The goal was to examine whether CELSR1 variants are associated with IS in the Chinese Han population.

Subjects And Methods: This study genotyped two single nucleotide polymorphisms (SNPs) of CELSR1, rs6007897 and rs4044210, in a Chinese sample of 569 IS cases and 581 controls and assessed their genotype and allele associations with IS.

New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.

Wilson's disease (WD) is a rare autosomal recessive genetic disorder of copper metabolism resulting in brain damage, liver failure, and neurological impairment and psychiatric disturbances, as a result of excessive copper accumulation in the brain, liver, kidneys and eyes. ATP7B, encoding a copper transporter P-ATPase was identified as the causative gene of WD. Mutations in the ATP7B gene lead to the defection of the transmembrane transporter so that it can not metabolize copper effectively.

PRDM16 rs2651899 variant is a risk factor for Chinese common migraine patients.

Objective: Recent genome-wide association studies (GWAS) have identified 3 loci in or near PRDM16 (1p36.32, rs2651899), LRP1 (12q13.3, rs11172113) and TRPM8 (2q37.

Association of MTHFR C677T polymorphism with susceptibility to migraine in the Chinese population.

A number of genes have been implicated in the pathogenesis of migraine, a common neurological disorder also in China. However, data on association of genetic variations with migraine susceptibility among Chinese, which might be different from people of other ethnic background, are still scarce. We have therefore investigated the association of polymorphisms in four genes, MTHFR C677T, ACE I/D, MAOA T941G and TNF-β G252A, which are considered to be with risk of migraine.