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Single nucleotide polymorphisms (SNPs) in the apolipoprotein A5 gene ( APOA5) are associated with hypertriglyceridaemia in our population. We studied the associations of SNPs in APOA5 with the metabolic syndrome (MetS) in the Hong Kong and Guangzhou Chinese. We genotyped five tagging SNPs in 1330 unrelated subjects from the Hong Kong Cardiovascular Risk Factor Prevalence Study cohort with follow-up after a median interval of 6·4 years; 1952 subjects from the Guangzhou Biobank Cohort Study-Cardiovascular Disease Subcohort were used to replicate the findings. The MetS was defined according to the consensus criteria proposed jointly by several organizations in 2009. The SNP rs662799 (−1131T>C) was associated with the MetS (odds ratio = 1·47, P = 0·00082) and the number of its components present (regression coefficient = 0·204, P = 4·6 × 10) after adjusting for age, sex, smoking, drinking and education in Hong Kong subjects at baseline. Similar association of this SNP was found in Hong Kong subjects at follow-up ( P = 0·010 and 0·00021, respectively) and in Guangzhou subjects ( P = 0·0041 and 0·017, respectively). The association of rs662799 with the number of the MetS components was significant regardless of age, sex, obesity and alcohol drinking, but almost disappeared after further adjusting for plasma triglycerides. Our results showed that the −1131T>C polymorphism in APOA5 was associated with the MetS because of its strong effect on plasma triglycerides. This may partly explain the higher cardiovascular risk in people with this polymorphism. [ABSTRACT FROM AUTHOR]

Single nucleotide polymorphisms (SNPs) in the apolipoprotein A5 (APOA5) gene have been associated with hypertriglyceridaemia. We investigated which SNPs in the APOA5 gene were associated with triglyceride levels in two independent Chinese populations. In all, 1375 subjects in the Hong Kong Cardiovascular Risk Factor Prevalence Study were genotyped for five tagging SNPs chosen from HapMap. Replication was sought in 1996 subjects from the Guangzhou Biobank Cohort Study. Among the five SNPs, rs662799 (-1131T>C) was strongly related to log-transformed triglyceride levels among Hong Kong subjects (β=0.192, P=2.6 × 10−13). Plasma triglyceride level was 36.1% higher in CC compared to TT genotype. This association was confirmed in Guangzhou subjects (β=0.159, P=1.3 × 10−12), and was significantly irrespective of sex, age group, obesity, metabolic syndrome, hypertension, diabetes, smoking and alcohol drinking. The odds ratios and 95% confidence interval for plasma triglycerides ≥1.7 mmol/l associated with TC and CC genotypes were, respectively, 1.81 (1.37-2.39) and 2.22 (1.44-3.43) in Hong Kong and 1.27 (1.05-1.54) and 1.97 (1.42-2.73) in Guangzhou. Haplotype analysis suggested the association was due to rs662799 only. The corroborative findings in two independent populations indicate that the APOA5-1131T>C polymorphism is an important and clinically relevant determinant of plasma triglyceride levels in the Chinese population. [ABSTRACT FROM AUTHOR]

A recent study in Caucasians found an association between the single nucleotide polymorphism (SNP) of SCN1A, IVS5N +5 G>A (rs3812718), and febrile seizures (FS). We examined whether this and other tagging SNPs of SCN1A were associated with an increased risk of FS in Han Chinese. A total of 728 Han Chinese patients with focal epilepsy were recruited: 97 had a history of FS (58% male, mean age 35 ± 12 years) and 631 did not (50% male, mean age 40 ± 15 years). Genotyping was performed for IVS5N +5 G>A and seven other tagging SNPs selected from the HapMap database. Genotyping was also performed in 848 ethnically matched population controls (50% male, mean age 37 ± 17 years). There was no statistically significant difference in either allele or genotype frequency of any of the SNPs studied between epilepsy patients with and without FS, and between epilepsy patients with FS and controls. The results do not suggest that SCN1A SNPs are susceptibility factors for FS in Han Chinese. [ABSTRACT FROM AUTHOR]

Lesions located in the basal ganglia (BG) are thought to be involved in the fatigue observed in neurological disorders. However, the significance of the location of infarcts in poststroke fatigue (PSF) is unknown. This study examined the association between BG infarcts and PSF. A total of 334 Chinese patients with acute ischemic stroke consecutively admitted to the acute stroke unit of a university-affiliated regional hospital in Hong Kong participated in the study. At admission, a host of demographic and clinical characteristics was collected and the number and location of acute infarcts were evaluated with MRI. All participants were assessed for PSF with the fatigue severity scale (FSS) 3 months after their index stroke. PSF was defined as a mean FSS score of 4.0 or more. Depressive symptoms were measured by the geriatric depression scale (GDS). Seventy-eight (23.4%) patients had PSF. In the univariate analysis, the PSF group included more females, had higher GDS scores, and a higher number of acute infarcts, and the PSF patients were more likely to have acute infarcts at the BG. Acute BG infarct remained an independent predictor of PSF in the multivariate analysis. In conclusion, these results suggest that BG infarcts may play a role in the development of PSF. [ABSTRACT FROM AUTHOR]

Aims: It remains controversial whether polymorphisms of the multidrug resistance gene ABCB1 are associated with pharmacoresistance in epilepsy. To further study the potential association, we genotyped a broad set of tagging SNPs, and explored whether any associations were affected by other host factors. We correlated any association with cerebral mRNA expression of ABCB1. Materials & methods: A total of 12 tagging and candidate SNPs of ABCB1 were genotyped in 464 Chinese epilepsy patients (270 drug responsive, 194 drug resistant). Genotype and allele distributions in drug-responsive and drug-resistant patients were compared. ABCB1 mRNA was quantified by real-time PCR in brain samples resected from 20 patients with drug-resistant epilepsy. Its level was compared between patients with different genotypes of ABCB1 SNPs found to be associated with drug resistance. Results: The intronic polymorphism rs3789243 (p = 0.009 for allele analysis) and the coding polymorphism 2677G/T/A (p = 0.02), and haplotypes containing them, were associated with drug resistance. The 2677G/T/A genotypes remained significantly associated with drug resistance after multiple logistic regression and correction for multiple comparisons. The associations with drug resistance were found in males (p = 0.004 for rs3789243 and p = 0.0007 for 2677T/A>G) but not females, and in patients with localization-related (p = 0.006 for rs3789243 and p = 0.01 for 2677T/A>G) but not idiopathic-generalized epilepsy. ABCB1 mRNA levels did not correlate with genotypes. Conclusion: In Chinese epilepsy patients, the ABCB1 intronic polymorphism rs3789243 and the coding polymorphism 2677, and haplotypes containing them, may be associated with drug resistance, without an effect on mRNA expression. There was preliminary evidence of interactions between these polymorphisms and gender and epilepsy syndrome. [ABSTRACT FROM AUTHOR]

AbstractFrontal and basal ganglia infarcts and executive dysfunction are thought to be involved in the pathophysiology of poststroke emotional incontinence (PSEI). The study examined whether patients with PSEI have more frontal and/or basal ganglia infarcts and impairment in executive function. A total of 516 Chinese patients with acute ischemic stroke consecutively admitted to the acute stroke unit of a university-affiliated regional hospital in Hong Kong were screened for PSEI 3 months after the index stroke. According to Kim?s criteria, 39 (7.6%) had PSEI. Thirty-nine stroke patients without PSEI served as matched control group. The PSEI group had significantly more frontal and/or basal ganglia infarcts, had lower Chinese Frontal Assessment Battery scores, required more time to complete the Stroop Test, and made more omission and commission errors in the Go?NoGo test. There was no significant correlation between frontal or basal ganglia infarcts and executive function. The correlation between frontal infarct and severity of PSEI was .420. Further follow-up and functional imaging studies are warranted to explore the relationship between PSEI, brain infarcts, and executive dysfunction. (JINS, 2009, 15, 62?68.) [ABSTRACT FROM AUTHOR]

Backgrounds: Intracranial atherosclerosis is the commonest vascular lesion for ischemic stroke in Asians. Most research on risk factors for middle cerebral artery (MCA) stenosis has been conducted in symptomatic patients with ischemic stroke or transient ischemic attack. The present study aimed to investigate risk factors for MCA stenosis in an asymptomatic population in Rongqi County in Southern China. Methods: We assessed 1,068 asymptomatic subjects over 50 years of age by transcranial Doppler. Medical history documentation and investigation of biochemical markers were performed for each subject. Multivariant, unconditioned, logistic regression analyses were employed to assess the risk factors associated with MCA stenosis. Results: MCA stenosis was found in 63 subjects (5.9%). Male gender, advancing age, hypertension, diabetes and systolic blood pressure were significant risk factors for MCA stenosis (p < 0.001). Based on logistic regression analyses, 4 factors emerged as independent risk factors (p < 0.001) of MCA stenosis: male gender [95% confidence interval (CI) = 1.49–4.66, OR = 2.63], age (95% CI = 1.01–1.06, OR = 1.04), hypertension (95% CI = 4.57–18.35, OR = 9.16) and diabetes mellitus (95% CI = 3.09–11.29, OR = 5.9). Conclusion: MCA stenosis is relatively common among asymptomatic Chinese subjects. Male gender, advanced age, hypertension and diabetes mellitus are risk factors for MCA stenosis. Copyright © 2007 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background Little is known about the performance of the Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE) in the screening of post-stroke dementia (PSDE). Methods At 3 months after the index stroke, a research assistant administered the IQCODE to relatives of 189 Chinese patients with acute stroke who were consecutively admitted to a general hospital. A psychiatrist, who was blind to the IQCODE scores, interviewed all 189 patients and made DSM-IV diagnosis of dementia, which served as the benchmark for judging the performance of IQCODE in screening PSDE. Results The optimal cut-off point of IQCODE was 3.40. The sensitivity, specificity, and positive and negative predictive values of IQCODE, and the area under the receiver operating characteristic curve, were 88%, 75%, 33%, 98%, and 0.88, respectively. Conclusions When used as a sole instrument, IQCODE does not appear to be useful in screening PSDE in Chinese elderly. Copyright © 2003 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]