scholarly journals Associations of TFEB Gene Polymorphisms With Cognitive Function in Rural Chinese Population

2021 ◽  
Vol 13 ◽  
Author(s):  
Yanfei Wei ◽  
Shuzhen Liu ◽  
Jiansheng Cai ◽  
Xu Tang ◽  
Junling Zhang ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Cognitive Function ◽  
Confidence Interval ◽  
Gene Polymorphisms ◽  
Chinese Population ◽  
Case Group ◽  
Dominant Model ◽  
Nucleotide Polymorphisms ◽  
Bonferroni Correction ◽  
Study Approach

Background: The study aimed to investigate the relationship between transcription factor EB (TFEB) gene polymorphisms, including their haplotypes, and the cognitive functions of a selected population in Gongcheng County, Guangxi.Methods: A case-control study approach was used. The case group comprised 339 individuals with cognitive impairment, as assessed by their Mini-Mental State Examination scores; the control population also comprised 339 individuals who were matched by sex and age (± 5 years) in a 1:1 ratio. TFEB gene polymorphisms were genotyped in 678 participants (190 men and 488 women, aged 30–91 years) by using the Sequenom MassARRAY platform.Results: Multifactorial logistic regression analysis showed that in the dominant model, the risk of developing cognitive impairment was 1.547 times higher in cases with the TFEB rs14063A allele (AG + AA) than in those with the GG genotype (adjusted odds ratio [OR] = 1.547, Bonferroni correction confidence interval = 1.021–2.345). Meanwhile, the presence of the TFEB rs1062966T allele (CT + TT) was associated with a lower risk of cognitive impairment in comparison with the presence of the CC genotype (adjusted OR = 0.636, Bonferroni correction confidence interval = 0.405–0.998). In the co-dominant model, the risk of developing cognitive impairment was 1.553 times higher in carriers of the TFEB rs14063AG genotype than in carriers of the GG genotype (adjusted OR = 1.553, Bonferroni correction confidence interval = 1.007–2.397). After the Bonferroni correction and adjustment for confounding factors, the association of TFEB rs1062966 with cognitive function persisted in the analyses stratified by education level. Ethnically stratified analysis showed a significant association between TFEB rs1062966 and cognitive function in the Yao population. The multilocus linkage disequilibrium analysis indicated that the identified single nucleotide polymorphisms were not inherited independently. The haplotype analysis suggested that the rs14063A–rs1062966C–rs2278068C–rs1015149T haplotype of the TFEB gene increased the risk of cognitive impairment (P < 0.05) and that the rs14063G–rs1062966T–rs2278068C–rs1015149C haplotype was associated with a reduced risk of cognitive impairment (P < 0.05).Conclusion:TFEB rs1062966 polymorphisms and their rs14063A–rs1062966C–rs2278068C–rs1015149T and rs14063G–rs1062966T–rs2278068C–rs1015149C haplotypes are genetic factors that may affect cognitive function among the rural Chinese population.

scholarly journals CD36 Gene Polymorphisms Are Associated with Intracerebral Hemorrhage Susceptibility in a Han Chinese Population

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Qiu-Wen Gong ◽  
Mao-Fan Liao ◽  
Liang Liu ◽  
Xiao-Yi Xiong ◽  
Qin Zhang ◽  
...  
Keyword(s):  
Intracerebral Hemorrhage ◽  
Gene Polymorphisms ◽  
Chinese Population ◽  
Han Chinese ◽  
Controlled Study ◽  
Control Group ◽  
Dominant Model ◽  
Nucleotide Polymorphisms ◽  
Han Chinese Population ◽  
Cd36 Gene

The CD36 gene encodes a membrane glycoprotein (type B scavenger receptor, SR-B2) that plays a crucial role in lipid sensing, innate immunity, atherogenesis, and glycolipid metabolism. In this study, we aimed to investigate the association between CD36 gene polymorphisms and intracerebral hemorrhage (ICH) in a Han Chinese population. We performed genotype and allele analyses for eleven single nucleotide polymorphisms (SNPs) of CD36 in a case-controlled study involving 292 ICH patients and 298 control participants. Eleven SNPs were genotyped by the Improved Multiple Ligase Detection Reaction (iMLDR) method. The results indicated that the SNP rs1194182 values were significantly different between ICH group and control group in a dominant model after adjusting for confounding factors. The subgroup analysis conducted for rs1194182 showed that the allele G frequencies were significantly different between ICH patients and controls in hypertension group via a dominant model. We then analyzed the rs1194182 genotype distributions among different groups of the serum lipid groups, including BMI, TC, TG, HDL, and LDL. However, no significant differences were found in the analysis of other subgroups. Taken together, these findings indicate that rs1194182 polymorphism in the CD36 gene was associated with ICH, and genotype GG could be an independent predictor.

scholarly journals The KIAA0319 Gene Polymorphisms are Associated with Developmental Dyslexia in Chinese Uyghur Children

2015 ◽  
Author(s):  
Hua Zhao ◽  
Xiang Peng Zuo ◽  
Ping Bao Zhang ◽  
Yun Chen
Keyword(s):  
Developmental Dyslexia ◽  
Gene Polymorphisms ◽  
Additive Model ◽  
Dominant Model ◽  
Nucleotide Polymorphisms ◽  
Linkage Disequilibrium Analysis ◽  
Bonferroni Correction ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Uyghur Population

To investigate the association of KIAA0319 gene polymorphisms and developmental dyslexia in individuals of Uyghurian descent. Eighteen single nucleotide polymorphisms (SNP) of gene KIAA0319 were screened in a group of 196 patients with dyslexia and 196 controls of Uyghur descent by determined the genotypes using a custom-by-design 48-Plex SNPscan™ Kit. SAS 9.1.3 software were used for data analysis. Seven SNPs(Pmin=0.001) of KIAA0319 have significant differences between the cases and controls under specific genotype models. Especially for rs6935076(Padjusted=0.020 under dominant model;Padjusted=0.028 under additive model) and rs3756821(Padjusted=0.021 under additive model), which still associated with dyslexia after Bonferroni correction. The linkage disequilibrium analysis showed four block within gene KIAA0319 and only the ten-maker haplotype(P=0.013) in block 4 was significantly more common in dyslexia children than in controls. The results indicated that genetic polymorphisms of KIAA0319 are associated with increased risk of developmental dyslexia in Uyghur population.

scholarly journals Association of single nucleotide polymorphisms in CACNA 1A/CACNA 1C/CACNA 1H calcium channel genes with diabetic peripheral neuropathy in Chinese population

2018 ◽  
Vol 38 (3) ◽  
Author(s):  
Lin Sun ◽  
Jun Ma ◽  
Qian Mao ◽  
Yun-Long Yang ◽  
Lin-Lin Ma ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Single Nucleotide Polymorphisms ◽  
Calcium Channel ◽  
Diabetic Peripheral Neuropathy ◽  
Chinese Population ◽  
Control Group ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pcr Rflp

The present study was conducted to explore the correlations between single nucleotide polymorphisms (SNPs) in the calcium channel CACNA 1A, CACNA 1C, and CACNA 1H genes and diabetic peripheral neuropathy (DPN) amongst the Chinese population. In total, 281 patients diagnosed with type 2 diabetes participated in the present study. These patients were divided into the case group, which was subdivided into the DPN (143 cases) and the non-DPN groups (138 cases). Subsequently, 180 healthy individuals that had undergone routine health examinations were also recruited and assigned to the control group. PCR-restriction fragment length polymorphism (PCR-RFLP) was used to detect the genotype and allele frequencies of CACNA 1A, CACNA 1C, and CACNA 1H genes; logistic regression analysis to investigate the association of gene polymorphisms with DNP. Gene–gene interactions were then detected by generalized multifactor dimensionality reduction (GMDR). The results revealed that CACNA 1A rs2248069 and rsl6030, CACNA 1C rs216008 and rs2239050, and CACNA 1H rs3794619, and rs7191246 SNPs were all associated with DPN, while rs2248069, rsl6030, rs2239050, and rs7191246 polymorphisms were attributed to the susceptibility to DPN. It was also observed that the optimal models were three-, four- and five-dimensional models with a prediction accuracy of 61.05% and the greatest consistency of cross-validation was 10/10. In summary, these findings demonstrated that the SNPs in the CACNA 1A, CACNA 1C, and CACNA 1H genes were involved in the pathophysiology of DPN. In addition, polymorphisms in the CACNA 1A, CACNA 1C, and CACNA 1H genes and their interactions also had effects on DPN.

scholarly journals Gas6 gene rs8191974 and Ap3s2 gene rs2028299 are associated with type 2 diabetes in the northern Chinese Han population

2017 ◽  
Vol 64 (2) ◽  
Author(s):  
Elena Kazakova ◽  
Tianwei Zghuang ◽  
Tingting Li ◽  
Qingxiao Fang ◽  
Jun Han ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Chinese Population ◽  
Specific Gene ◽  
Dominant Model ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Chinese Populations ◽  
Significant Difference ◽  
Stratified Analysis

Previous studies in other countries have shown that single nucleotide polymorphisms (SNPs) in the growth arrest-specific gene 6 (Gas6; rs8191974) and adapter- related protein complex 3 subunit sigma-2 (Ap3s2; rs2028299) were associated with an increasedrisk for type 2 diabetes mellitus (T2DM). However, the association of these loci with T2DM has not been examined in Chinese populations. We performed a replication study to investigate the association of these susceptibility loci with T2DM in the Chinese population. We genotyped 1968 Chinese participants (996 with T2DM and 972controls) for rs8191974 in Gas6 and rs2028299 near Ap3s2, and examined their association with T2DM using a logistic regression analysis. We also analyzed the correlation of genotypes and clinical phenotypes. The distribution of the T allele of SNP rs8191974 in the Gas6 gene was significantly different between T2DM cases and controls when compared with the C allele (P<0.05, OR: 0.80，95% CI: 0.69–0.94). The occurrence of the CT genotype and the dominant model was also significantly less frequent in the T2DM cases vs. controls when compared with the CC genotype (CT vs. CC: P<0.05, OR: 0.75, 95% CI:0.62–0.90; TT+CT vs. CC: P<0.05, OR:0.75, 95% CI:0.63–0.90). In SNP rs2028299, the allele C showed no statistically significant differencein distribution between the control and T2DM groups when compared with allele A. However, in male populations, the dominant model was statistically more frequent when compared with genotype AA (CC+CA vs. AA: P<0.05, OR:1.29, 95% CI:1.02–1.64), and in obesity-stratified analysis, we also observed a significant difference in the distribution of the dominant model between the T2DM cases and controls in subjects with BMI≥24 kg/ m2 and BMI<28kg/m2 (CC+CA vs. AA: P<0.05, OR: 6.33, 95% CI:4.17–9.61). In conclusion, our study shows that SNPsrs8191974 and rs2028299 are significantly associated with T2DM in the Chinese population.

scholarly journals The IL-1B Gene Polymorphisms rs16944 and rs1143627 Contribute to an Increased Risk of Coronary Artery Lesions in Southern Chinese Children with Kawasaki Disease

2019 ◽  
Vol 2019 ◽  
pp. 1-7 ◽  
Author(s):  
Lan Yan Fu ◽  
Xiantao Qiu ◽  
Qiu Lian Deng ◽  
Ping Huang ◽  
Lei Pi ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Kawasaki Disease ◽  
Gene Polymorphisms ◽  
Chinese Population ◽  
Healthy Children ◽  
Nucleotide Polymorphisms ◽  
Coronary Artery Lesions ◽  
Multicenter Studies ◽  
Southern Chinese ◽  
Increased Risk

Background. Kawasaki disease (KD) is a systemic form of self-limited vasculitis in children less than five years old, and the main complication is coronary artery injury. However, the etiology of KD remains unclear. The IL-1B polymorphisms rs16944 GG and rs1143627 AA and their diplotype GA/GA have been associated with significantly increased risk of intravenous immunoglobulin (IVIG) resistance in a Taiwanese population, but the relationship between rs16944 A/G and rs1143627 G/A and coronary artery lesions (CALs) in patients with KD has not been investigated. The present study is aimed at investigating whether the rs16944 A/G and rs1143627 G/A polymorphisms in IL-1B were associated with KD susceptibility and CALs in a southern Chinese population. Methods and Results. We recruited 719 patients with KD and 1401 healthy children. Multiplex PCR was used to assess the genotypes of single nucleotide polymorphisms (SNPs), including two SNPs of IL-1B, rs16944 A/G and rs1143627 G/A. According to the results, no significant association was observed between the IL-1B (rs16944 and rs1143627) polymorphisms and KD risk in the patients compared with the healthy controls in our southern Chinese population. However, in further stratified analysis, we found that children younger than 12 months with the rs16944 GG and rs1143627 AA genotypes of IL-1B had a higher risk of CALs than those with the AA/AG genotypes of rs16944 and GG/AG genotypes of rs1143627 (OR=2.28, 95% CI=1.32-3.95, P=0.0032, adjusted OR=2.33, 95% CI=1.34-4.04, P=0.0027). Conclusions. Our results indicated that there was no association between the rs16944 A/G and rs1143627 G/A gene polymorphisms and KD susceptibility. However, the rs16944 GG and rs1143627 AA genotypes of IL-1B may significantly impact the risk of CAL formation in children younger than 12 months, which may contribute to the pathogenesis of KD. These findings need further validation in multicenter studies with larger sample sizes.

scholarly journals Association Between Dietary Intakes of B Vitamins in Midlife and Cognitive Impairment in Late-Life: The Singapore Chinese Health Study

2019 ◽  
Vol 75 (6) ◽  
pp. 1222-1227
Author(s):  
Li-Ting Sheng ◽  
Yi-Wen Jiang ◽  
Xiong-Fei Pan ◽  
Lei Feng ◽  
Jian-Min Yuan ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Cognitive Function ◽  
Chinese Population ◽  
Late Life ◽  
Epidemiological Studies ◽  
B Vitamins ◽  
Health Study ◽  
Dependent Manner ◽  
Dietary Intakes ◽  
Singapore Chinese

Abstract Background Dietary intakes of B vitamins (eg, folate) are related to cognitive function according to epidemiological studies in western countries. But prospective studies in Asian populations are scarce. This study evaluated the relationships of dietary intakes of six B vitamins in midlife with cognitive impairment in old age in a Chinese population living in Singapore. Methods This study included 16,948 participants from the Singapore Chinese Health Study, a population-based prospective cohort. Baseline dietary intakes of B vitamins were assessed using a validated 165-item food frequency questionnaire when the participants were aged 45–74 years (1993–1998). After an average follow-up of 20 years, cognitive function was examined using a Singapore-modified version of Mini-Mental State Examination scale in 2014–2016, and cognitive impairment was defined using education-specific cutoffs. Logistic regression models were applied to estimate the association between B vitamins and cognitive impairment. All the six B vitamins were mutually adjusted in the final model. Results In the 2014–2016 interview, 2,443 participants were defined as cognitive impairment. Riboflavin and folate were significantly and independently associated with cognitive impairment in a dose-dependent manner: the odds ratio (95% confidence interval) comparing the highest with the lowest quartile was 0.82 (0.69, 0.97) for riboflavin and 0.83 (0.70, 0.98) for folate (both p-trend &lt;.05). Dietary intakes of thiamine, niacin, vitamin B-6, and B-12 were not significantly associated with risk of cognitive impairment. Conclusions Higher dietary intakes of riboflavin and folate in midlife were associated with a lower risk of cognitive impairment in late-life in the Chinese population.

scholarly journals Association of Sex Determining Region Y-Box 17 Gene Polymorphisms and Intracranial Aneurysm: A Case-Control Study and Meta-analysis

Neurosurgery ◽  
2019 ◽  
Vol 66 (Supplement_1) ◽  
Author(s):  
Museung Park ◽  
Yong-Jun Cho ◽  
Jin Sue Jeon
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Gene Polymorphisms ◽  
Meta Analysis ◽  
East Asian ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Unruptured Aneurysms ◽  
Asian Populations

Abstract INTRODUCTION Genome-wide association studies have revealed an association between SRY (Sex Determining Region Y)-box 17 (SOX17) gene and intracranial aneurysm (IA) formation. However, results were mainly derived from European and Japanese populations. We investigated the association between SOX17 gene polymorphisms and IA in a homogeneous Korean population. We performed a meta-analysis to assess these results in East-Asian populations. METHODS This cross-sectional study included 187 age- and sex-matched patients with IA and 372 control subjects. Genetic association analysis was performed in the generalized linear model to identify associations between 4 single nucleotide polymorphisms and IA, including 95 patients with ruptured aneurysms and 92 with unruptured aneurysms. The East-Asian meta-analysis of 5100 IA cases and 7930 control cases was conducted under an inverse variance model. RESULTS Among 4 single nucleotide polymorphisms that passed quality control tests, the minor C allele of rs1072737 was significantly associated with IA (odds ratio 0.69, 95% confidence interval 0.49-0.96, P = .03). None of the 4 single nucleotide polymorphisms showed a significant association between patients with ruptured and unruptured aneurysms. Meta-analysis revealed that G alleles of rs10958409 and rs9298506 were significantly associated with IA in the East-Asian population after removing study heterogeneity (odds ratio 1.11, 95% confidence interval 1.04-1.19, P = .0023 and odds ratio 1.19, 95% confidence interval 1.07-1.32, P = .0016). CONCLUSION Identification of genetic variants located near SOX17 is likely to be clinically significant for IA formation. rs10958409 and rs9298506 may increase risk of IA in East-Asian populations. Our findings may help in the identification of IA pathogenesis.

scholarly journals Role played by the SP4 gene in schizophrenia and major depressive disorder in the Han Chinese population

2016 ◽  
Vol 208 (5) ◽  
pp. 441-445 ◽  
Author(s):  
Jianhua Chen ◽  
Kuanjun He ◽  
Qingzhong Wang ◽  
Zhiqiang Li ◽  
Jiawei Shen ◽  
...  
Keyword(s):  
Major Depressive Disorder ◽  
Depressive Disorder ◽  
Chinese Population ◽  
Han Chinese ◽  
Nucleotide Polymorphisms ◽  
Bonferroni Correction ◽  
Case Control Studies ◽  
Major Depressive ◽  
Han Chinese Population ◽  
Common Risk Factors

BackgroundPsychiatric disorders such as schizophrenia and major depressive disorder (MDD) are likely to be caused by multiple susceptibility genes, each with small effects in increasing the risk of illness. Identifying DNA variants associated with schizophrenia and MDD is a crucial step in understanding the pathophysiology of these disorders.AimsTo investigate whether the SP4 gene plays a significant role in schizophrenia or MDD in the Han Chinese population.MethodWe focused on nine single nucleotide polymorphisms (SNPs) harbouring the SP4 gene and carried out case–control studies in 1235 patients with schizophrenia, 1045 patients with MDD and 1235 healthy controls recruited from the Han Chinese population.ResultsWe found that rs40245 was significantly associated with schizophrenia in both allele and genotype distributions (Pallele = 0.0005, Pallele = 0.004 after Bonferroni correction; Pgenotype = 0.0023, Pgenotype = 0.0184 after Bonferroni correction). The rs6461563 SNP was significantly associated with schizophrenia in the allele distributions (Pallele = 0.0033, Pallele = 0.0264 after Bonferroni correction).ConclusionsOur results suggest that common risk factors in the SP4 gene are associated with schizophrenia, although not with MDD, in the Han Chinese population.

scholarly journals Correlation Between Cognitive Function Impairment and Chronic Kidney Disease With a Low Glomerular Filtration Rate at Sanglah Hospital Denpasar

2020 ◽  
Vol 8 (B) ◽  
pp. 752-756
Author(s):  
Anak Agung Ayu Putri Laksmidewi ◽  
Cok Istri Gangga Dewi Dewi ◽  
Yennny Kandarini
Keyword(s):  
Chronic Kidney Disease ◽  
Glomerular Filtration Rate ◽  
Cognitive Impairment ◽  
Cognitive Function ◽  
Kidney Disease ◽  
Glomerular Filtration ◽  
Filtration Rate ◽  
Control Group ◽  
Case Group ◽  
Increased Risk

BACKGROUND: Chronic kidney disease is a condition of chronic kidney damage with abnormal structure and function of the kidneys that lasts more than 3 months, accompanied or not by a decrease in glomerular filtration rate. Organic kidney disease leaves accumulated organic waste that cannot be removed by the kidneys. Furthermore, several biochemical and metabolic mechanisms such as chronic inflammation and oxidative stress can cause executive disorders. AIM: The aim of the study was to find out an increased risk of impaired cognitive function in patients with chronic kidney disease with a low glomerular filtration rate in Sanglah Hospital. METHOD: This study uses a retrospective case–control analytic observational study design. We included all patients with chronic kidney disease in Sanglah Hospital in December 2017–January 2018. This study involved 46 subjects with chronic kidney disease who met eligibility criteria, classified as a case group with cognitive impairment and a control group without cognitive impairment. RESULTS: Each decrease in glomerular filtration rate < 30 ml/min/173 m2 in patients with chronic renal failure correlates with an increased incidence of cognitive impairment of around 15–25%. The risk of chronic kidney disease patients with glomerular filtration rate < 30 ml/min/1.73 m2 decreased cognitive function 13 times compared to subjects with glomerular filtration rate > 30 ml/min/ 1.73 m2. CONCLUSION: Low glomerular filtration rate correlate with increased risk of cognitive impairment.

Cognitive Dysfunction and Gait Abnormalities in CKD

2021 ◽  
pp. CJN.16091020
Author(s):  
Melanie J. Koren ◽  
Helena M. Blumen ◽  
Emmeline I. Ayers ◽  
Joe Verghese ◽  
Matthew K. Abramowitz
Keyword(s):  
Older Adults ◽  
Cognitive Impairment ◽  
Mild Cognitive Impairment ◽  
Cognitive Function ◽  
Confidence Interval ◽  
Cognitive Dysfunction ◽  
Gray Matter ◽  
Community Dwelling ◽  
Gray Matter Atrophy ◽  
Gait Abnormalities

Background and objectivesCognitive impairment is a major cause of morbidity in CKD. We hypothesized that gait abnormalities share a common pathogenesis with cognitive dysfunction in CKD, and therefore would be associated with impaired cognitive function in older adults with CKD, and focused on a recently defined gait phenotype linked with CKD.Design, setting, participants, & measurementsGait assessments and neuropsychological testing were performed in 312 nondisabled, community-dwelling older adults (aged ≥65 years). A subset (n=115) underwent magnetic resonance imaging. The primary cognitive outcome was the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) total scale score. Associations with cognitive function were tested using multivariable linear regression and nearest-neighbor matching. The risk of developing mild cognitive impairment syndrome was assessed using Cox proportional hazards models.ResultsLower eGFR was associated with lower RBANS score only among participants with the gait phenotype (P for interaction =0.04). Compared with participants with neither CKD nor the gait phenotype, adjusted RBANS scores were 5.4 points (95% confidence interval, 1.8 to 9.1) lower among participants with both, who demonstrated poorer immediate memory, visuospatial ability, delayed memory, and executive function. In a matched analysis limited to participants with CKD, the gait phenotype was similarly associated with lower RBANS scores (−6.9; 95% confidence interval, −12.2 to −1.5). Neuroimaging identified a pattern of gray matter atrophy common to both CKD and the gait phenotype involving brain regions linked with cognition. The gait phenotype was associated with higher risk of mild cognitive impairment (hazard ratio, 3.91; 95% confidence interval, 1.46 to 10.44) independent of eGFR.ConclusionsThe gait phenotype was associated with poorer function in a number of cognitive domains among older adults with CKD, and was associated with incident mild cognitive impairment independent of eGFR. CKD and the gait phenotype were associated with a shared pattern of gray matter atrophy.

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