Apolipoprotein E gene polymorphisms associated with processing speed and executive functions in healthy Han Chinese.
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ABSTRACT:
SUBMITTER: Zhang CC
PROVIDER: S-EPMC5563686 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
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Apolipoprotein E gene polymorphisms associated with processing speed and executive functions in healthy Han Chinese.
Zhang Cheng-Cheng CC Ren Hong-Yan HY Li Ming-Li ML Wang Qiang Q Deng Wei W Guo Wan-Jun WJ Lei Wei W Xiang Bo B Zhao Lian-Sheng LS Ma Xiao-Hong XH Yao Yong-Gang YG Li Tao T
Neuroscience bulletin 20150401 3
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Project description:Background and purposeExecutive dysfunction and slowed processing speed are central cognitive impairments in cerebral small vessel disease (cSVD). It is unclear whether the subcomponents of executive functions become equally affected and whether computerized tests are more sensitive in detecting early cognitive changes over traditional tests. The associations of specific executive abilities (cognitive flexibility, inhibitory control, working memory) and processing speed with white matter hyperintensities (WMHs) and Instrumental Activities of Daily Living (IADL) were examined.MethodsIn the Helsinki Small Vessel Disease Study, 152 older individuals without stroke or dementia were assessed with brain magnetic resonance imaging and comprehensive neuropsychological evaluation. WMH volumes were obtained with automated segmentation. Executive functions and processing speed measures included established paper-and-pencil tests and the computer-based Flexible Attention Test (FAT), Simon task and Sustained Attention to Response Task.ResultsWhite matter hyperintensity volume and IADL were associated with multiple cognitive measures across subdomains independently of demographic factors. The highest effect sizes were observed for FAT numbers and number-letter tasks (tablet modifications from the Trail Making Test), FAT visuospatial span, Simon task and semantic verbal fluency. Some of the widely used tests such as Stroop inhibition, phonemic fluency and digit span were not significantly associated with either WMHs or IADL.ConclusionProcessing speed and executive function subcomponents are broadly related to functional abilities and WMH severity in covert cSVD, but the strength of associations within subdomains is heavily dependent on the assessment method. Digital tests providing precise measures of reaction times and response accuracy seem to outperform many of the conventional paper-and-pencil tests.
| S-EPMC11622512 | biostudies-literature
Project description:BackgroundThe peroxisome proliferator-activated receptors (PPARs) -α, -δ/β and -γ are the ligand-activated transcription factors involved in the regulation of fatty acid and lipoprotein metabolism, energy balance, cell proliferation and differentiation and atherosclerosis, etc. We investigated the associations of 10 single-nucleotide polymorphisms (SNPs) in PPARs with apolipoprotein (apo) A-I/apoB ratio in Chinese Han population.MethodsOverall, 630 subjects (212 males, 418 females) were randomly selected from the Prevention of Metabolic Syndrome and Multiple Metabolic Disorders in Jiangsu Province of China Study Cohort. Population analyzed was as the general population which involved healthy people and individuals with disorders of apoA-I or apoB. 10 SNPs (rs1800206, rs135539, rs4253778, rs2016520, rs9794, rs10865710, rs1805192, rs709158, rs3856806 and rs4684847) were genotyped. Mean difference (Difference) and 95% confident interval (95%CI) were calculated.ResultsAfter covariates adjustment, rs1800206-V allele (LV+VV) and rs3856806-T allele (CT+TT) were significantly associated with a decreased apoA-I/apoB ratio than those wild type carriers, Difference (95%CI) were -1.29 (-1.96-0.62) and -0.8 (-1.42~-0.17), respectively. Rs4253778-C allele was significantly associated with an increased apoA-I/apoB ratio compared to the wild type carriers (GG), Difference (95%CI) was 0.76 (0.04-1.48). Generalized multifactor dimensionality reduction analysis showed that three-to-eight-locus models were significant with apoA-I/apoB ratio (P<0.05). We chose the seven-locus model (P=0.0010) as the best GMDR model (cross-validation consistency was 7/10 and testing accuracy was 62.97%).ConclusionOur data provided the evidence that PPARs polymorphisms might be involved in regulation of apoA-I/apoB ratio in independently and/or in an interactive manner.
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Project description:BackgroundThe beneficial effects of brain training games are expected to transfer to other cognitive functions, but these beneficial effects are poorly understood. Here we investigate the impact of the brain training game (Brain Age) on cognitive functions in the elderly.Methods and resultsThirty-two elderly volunteers were recruited through an advertisement in the local newspaper and randomly assigned to either of two game groups (Brain Age, Tetris). This study was completed by 14 of the 16 members in the Brain Age group and 14 of the 16 members in the Tetris group. To maximize the benefit of the interventions, all participants were non-gamers who reported playing less than one hour of video games per week over the past 2 years. Participants in both the Brain Age and the Tetris groups played their game for about 15 minutes per day, at least 5 days per week, for 4 weeks. Each group played for a total of about 20 days. Measures of the cognitive functions were conducted before and after training. Measures of the cognitive functions fell into four categories (global cognitive status, executive functions, attention, and processing speed). Results showed that the effects of the brain training game were transferred to executive functions and to processing speed. However, the brain training game showed no transfer effect on any global cognitive status nor attention.ConclusionsOur results showed that playing Brain Age for 4 weeks could lead to improve cognitive functions (executive functions and processing speed) in the elderly. This result indicated that there is a possibility which the elderly could improve executive functions and processing speed in short term training. The results need replication in large samples. Long-term effects and relevance for every-day functioning remain uncertain as yet.Trial registrationUMIN Clinical Trial Registry 000002825.
| S-EPMC3256163 | biostudies-literature
Project description:AimTo investigate the association between two polymorphisms of apolipoprotein C3 (APOC3) and risk of nonalcoholic fatty liver disease (NAFLD) in a Chinese Han population.MethodsGenotypes for rs2854116 and rs2854117 in APOC3 and the known rs738409 in patatin-like phospholipase domain-containing protein 3 (PNPLA3) in 390 patients with NAFLD and 409 control subjects were determined by sequencing and polymerase chain reaction analysis. Serum lipid profiles were determined using biochemical methods, and an index of insulin resistance (IR, HOMA-IR), serum APOC3 concentrations and total antioxidant status (TAS) were also assessed.ResultsNo significant differences in genotype and allele frequencies of rs2854116 and rs2854117 were found between the NAFLD population and the controls (P > 0.05). The OR for the association between -455C and -482T allele carriers and the risk of NAFLD were 1.06 (95%CI: 0.72-1.57, P > 0.05) and 1.00 (95%CI: 0.68-1.48, P > 0.05), respectively. The variant carriers did not have a significantly increased risk of NAFLD or elevated clinical and biochemical parameters such as APOC3 concentrations, IR (1.42 ± 0.43 vs 1.48 ± 0.52, P > 0.05), liver enzymes and TAS (13.94 ± 2.01 vs 14.38 ± 1.92, P > 0.05) compared with the controls. Moreover, the results were similar when testing was carried out independent of the genetic variation in PNPLA3.ConclusionThe two polymorphisms of the APOC3 gene are not associated with a risk of NAFLD, or with lipid profiles, IR and oxidative stress in the Chinese Han population.
| S-EPMC3974535 | biostudies-literature
Project description:To identify common variants contributing to normal variation in two specific domains of cognitive functioning, we conducted a genome-wide association study (GWAS) of executive functioning and information processing speed in non-demented older adults from the CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) consortium. Neuropsychological testing was available for 5429-32,070 subjects of European ancestry aged 45 years or older, free of dementia and clinical stroke at the time of cognitive testing from 20 cohorts in the discovery phase. We analyzed performance on the Trail Making Test parts A and B, the Letter Digit Substitution Test (LDST), the Digit Symbol Substitution Task (DSST), semantic and phonemic fluency tests, and the Stroop Color and Word Test. Replication was sought in 1311-21860 subjects from 20 independent cohorts. A significant association was observed in the discovery cohorts for the single-nucleotide polymorphism (SNP) rs17518584 (discovery P-value=3.12 × 10(-8)) and in the joint discovery and replication meta-analysis (P-value=3.28 × 10(-9) after adjustment for age, gender and education) in an intron of the gene cell adhesion molecule 2 (CADM2) for performance on the LDST/DSST. Rs17518584 is located about 170 kb upstream of the transcription start site of the major transcript for the CADM2 gene, but is within an intron of a variant transcript that includes an alternative first exon. The variant is associated with expression of CADM2 in the cingulate cortex (P-value=4 × 10(-4)). The protein encoded by CADM2 is involved in glutamate signaling (P-value=7.22 × 10(-15)), gamma-aminobutyric acid (GABA) transport (P-value=1.36 × 10(-11)) and neuron cell-cell adhesion (P-value=1.48 × 10(-13)). Our findings suggest that genetic variation in the CADM2 gene is associated with individual differences in information processing speed.
| S-EPMC4722802 | biostudies-literature
Project description:Previous reports have described that long-term combination exercise training improves cognitive functions in healthy elderly people. This study investigates the effects of 4 weeks of short-term combination exercise training on various cognitive functions of elderly people. We conducted a single-blinded randomized controlled trial with two parallel groups. Sixty-four healthy older adults were assigned randomly to a combination exercise training group or a waiting list control group. Participants in the combination exercise training group participated in the combination exercise training (aerobic, strength, and stretching exercise trainings) 3 days per week during 4 weeks (12 workouts total). The waiting list control group did not participate in the combination exercise training. Measures of the cognitive functions (executive functions, episodic memory, working memory, reading ability, attention, and processing speed) were conducted before and after training. Results showed that the combination exercise training improved executive functions, episodic memory, and processing speed compared to those attributes of the waiting list control group. This report was the first of a study demonstrating the beneficial effects of short-term combination exercise training on diverse cognitive functions of elderly people. Our study provides important evidence of the short-term combination exercise's effectiveness.
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Project description:Pulse wave velocity (PWV) is a noninvasive index of arterial stiffness and an independent predictor of cardiovascular outcomes. Type IV collagen is an important structural component of the vascular basement membrane, thus it is important for the integrity and functions of basement membrane. However, the relationship between genetic polymorphisms of COL4A1 gene and PWV in healthy Han Chinese and Uygur subjects remains unclear. We aimed to investigate the association between PWV and COL4A1 genetic polymorphisms in healthy Han Chinese and Uygur subjects. A total of 1533 subjects (909 Han, 624 Uygur) were selected from the Cardiovascular Risk Survey (CRS) study. Two SNPs (rs605143 and rs565470) were genotyped by using the polymerase chain reaction-restriction fragment length (PCR-RFLP) method. In the Uygur population, the two SNPs (rs605143 and rs565470) were associated with PWV by analyses of a recessive model (p = 0.002, p = 0.008, respectively), and the difference remained significant after multivariate adjustment (p = 0.004, p = 0.001, respectively); the AA genotype of rs605143 was associated with increased PWV value compared with the AG or GG genotype (1543.36 ± 324.79 cm/s vs. 1530.45 ± 314.24 cm/s and 1522.93 ± 316.00 cm/s); and the CC genotype of rs565470 was associated with increased PWV value compared with the CT or TT genotype (1647.90 ± 553.27 cm/s vs. 1506.8 ± 357.35 cm/s and 1488.4 ± 344.32 cm/s). But for healthy Han Chinese subjects, this association was not observed in rs605143 and rs565470 before and after multivariate adjustment. Both rs605143 and rs565470 in the COL4A1 gene are associated with PWV in healthy Uygur subjects, indicating that carriers of the A allele of rs605143 and the C allele of rs565470 have a high risk of Arterial stiffness.
| S-EPMC4402869 | biostudies-literature
Project description:BackgroundApolipoprotein E (apoE) induces the uptake of vitamin K-rich lipoproteins by the liver, which likely affects inter-individual variation of warfarin dosing requirements. Associations between APOE polymorphisms and warfarin dosing were previously reported inconsistently among different ethnic groups, so the present study investigated this association in northern Han Chinese patients with mechanical heart valve prosthesis.MethodsA total of 186 patients who underwent mechanical heart valve replacement and attained a stable warfarin dose were included. APOE single nucleotide polymorphisms (SNPs) rs7412 and rs429358 were genotyped using Illumina SNP GoldenGate Assay. Genotyping results were confirmed by direct sequencing. PHASE v2.1 software was used to construct rs7412 and rs429358 haplotypes. The effects of different APOE genotypes on warfarin dose were analyzed statistically.ResultsThe mean warfarin maintenance dose was 3.10 ± 0.96 mg/day, and the mean international normalized ratio (INR) was 2.09 ± 0.24. APOE E2, E3, and E4 allele frequencies were 11.6 %, 82.5 %, and 5.9 %, respectively. No E2/E2 or E4/E4 genotypes were detected in this population. E2/E3, E3/E3, E2/E4, and E3/E4 genotype frequencies were 21.0 %, 67.2 %, 2.2 %, and 9.7 %, respectively. Significant differences in warfarin dose requirements were observed among patients with E2/E3, E3/E3, and E3/E4 genotypes (p < 0.05). In post hoc comparison, daily warfarin maintenance doses were significantly higher in E2/E3 heterozygotes compared with E3/E3 homozygotes (p < 0.05), but no differences in dose requirements were found between E3/E4 and E3/E3, or E2/E3 and E3/E4 (p > 0.05). Patients were divided into low-intensity anticoagulant treatment group (1.6 ≤ INR <2.0) and relatively high-intensity anticoagulant treatment group (2.0 ≤ INR ≤ 2.5), and significantly higher warfarin dose requirements were observed in E2/E3 heterozygotes compared with E3/E3 homozygotes in both subgroups (p < 0.05). Multivariable analysis adjusting for other confounders showed that E2/E3 genotype was associated with a significantly higher warfarin dose compared with E3/E3 genotype (p < 0.05).ConclusionsAPOE allele and genotype frequencies in the northern Han Chinese population appear to differ from other racial groups or populations living in other regions of China. The APOE E2 variant was associated with a significantly higher warfarin maintenance dose. Thus, APOE polymorphisms could be one of the predictors influencing warfarin doses in this population.
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Project description:ObjectivesCloninger developed the three-dimensional personality theory and Tridimensional Personality Questionnaire (TPQ), which shows that some dimensions of personality traits are heritable and related to neurotransmitters including dopamine. glutathione peroxidase 1 (GPx1) plays an important role in metabolic dopamine change and closely relates to neurological and psychiatric disorders. The impact of GPx-1 polymorphisms has been rarely explored in the field of personality traits. We decide to explore the relationships between them in healthy Chinese-Han subjects by using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).MethodsIn our study, 493 healthy Chinese-Han participants (male = 234, female = 259) were recruited. 2 ml of EDTA-treated blood from each volunteer was taken; meanwhile, personality traits were assessed by TPQ. We detected the genotypes of selected two polymorphisms through PCR-RFLP after extracting DNA. Finally, the association between different genotypes and TPQ scores was performed using SPSS, p < .05 is seen as significant statistical significance.ResultsOur data found a correlation between rs1800668 and novelty seeking (NS) subscale NS2 (X2 = 7.392, p = .025). While the results showed the rs1050450 was significantly associated with NS4 (X2 = 6.059, p = .048). Regarding sex stratification, there was a significant difference in the NS2 score (X2 = 8.232, p = .016) among women for rs1800668. No sex effect was observed for either genotype for rs1050450.ConclusionGPx-1polymorphism is related to personality traits in healthy Chinese-Han subjects. Our results suggested that GPx-1 may be involved in the biological mechanisms and be a potential gene that influenced personality.
| S-EPMC7749609 | biostudies-literature
Project description:The aim of this study was to investigate the association of three single nucleotide polymorphisms in the erythropoietin gene polymorphisms with diabetic retinopathy and additional role of gene-gene interaction on diabetic retinopathy risk. A total of 1193 patients (579 men, 614 women) with type 2 diabetes mellitus were selected, including 397 diabetic retinopathy patients and 796 controls (type 2 diabetes mellitus patients without diabetic retinopathy); the mean age of all participants was 56.7 ± 13.9 years. Three single nucleotide polymorphisms were selected: rs507392, rs1617640, and rs551238. The t-test was used for comparison of erythropoietin protein level erythropoietin levels in patients having different erythropoietin genotypes. Logistic regression model was used to examine the association between three single nucleotide polymorphisms and diabetic retinopathy. Odds ratio (OR) and 95% confident interval (95% CI) were calculated. Generalized multifactor dimensionality reduction was employed to analyze the impact of interaction among three single nucleotide polymorphisms on CVD risk. After covariates adjustment, the carriers of homozygous mutant of three single nucleotide polymorphisms have higher diabetic retinopathy risk than those with wild-type homozygotes, OR (95% CI) were 2.04 (1.12-2.35), 1.87 (1.10-2.41) and 1.15 (1.06-1.76), respectively. Generalized multifactor dimensionality reduction model indicated a significant three-locus model (p = 0.0010) involving rs507392, rs1617640, and rs551238. Overall, the three-locus models had a cross-validation consistency of 10 of 10, and had the testing accuracy of 60.72%. Subjects with TC or CC-TG or GG-AC or CC genotype have the highest diabetic retinopathy risk. In conclusion, our results support an important association of rs507392, rs1617640 and rs551238 minor allele of erythropoietin with increased diabetic retinopathy risk, and additional interaction among three single nucleotide polymorphisms.
| S-EPMC4994906 | biostudies-literature