scholarly journals Association between polymorphism of the NEDD4 gene and cognitive dysfunction of schizophrenia patients in Chinese Han population

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Chao Han ◽  
Kaiyan Cui ◽  
Xiaojiao Bi ◽  
Lina Wang ◽  
Mengmeng Sun ◽  
...  
Keyword(s):  
Cognitive Dysfunction ◽  
Verbal Learning ◽  
Chinese Han Population ◽  
Unknown Etiology ◽  
Control Group ◽  
Case Group ◽  
Chinese Han ◽  
Han Population ◽  
Group Members ◽  
And Control

Abstract Background Schizophrenia is a complex psychiatric disorder with unknown etiology. A number of recent studies have shown that the polymorphism of the neural precursor cell expressed developmentally down-regulated 4 (NEDD4) gene is associated with a variety of neuropsychiatric disorders, such as schizophrenia, and may also be associated with cognitive dysfunction in these diseases. Methods A case-control study was carried out, the alleles and genotypes distributions of five loci (rs3088077, rs2303579, rs7162435, rs11550869, rs62043855) of the NEDD4 gene from 296 schizophrenia patients and 320 healthy controls were detected by using Taqman single-nucleotide polymorphism (SNP) genotyping technology. The clinical data of case and control group members were collected by self-made questionnaire and the psychotic symptoms of case group members were assessed by the Positive and Negative Syndrome Scale (PANSS). The Matrics Consensus Cognitive Battery (MCCB) was used to test the cognitive function of case group members. Results The alleles and genotypes frequency of two loci (rs3088077, rs2303579) between case and control group showed significant differences (P <  0.05). There was no significant difference in MCCB scores of patients with different genotypes at rs3088077, rs11550869 and rs7162435 loci in case group. The study of rs2303579 locus showed that, patients’ scores with CT genotype were significantly lower than those with CC and TT genotypes (P <  0.05) in the test of Wechsler Memory Scale-Third Edition (WMS-III): Spatial Span, the scores of patients with TT genotype were significantly higher than those with CT genotype (P < 0.05) in the test of Hopkins Verbal Learning Test-Revised (HVLT-R). The study of rs62043855 locus showed that patients with TG genotype had significantly lower scores than those with GG genotype (P < 0.05) in the test of Neuropsychological Assessment Battery (NAB): Mazes. Conclusions Our study showed that in schizophrenia patients of Chinese Han population, the polymorphisms of rs3088077 and rs2303579 loci were related to the pathogenesis of schizophrenia, while the polymorphisms of rs2303579 and rs62043855 loci were associated with cognitive dysfunction.

scholarly journals Connection for TESPA1 Polymorphisms to ankylosing spondylitis incidence in the Chinese Population

2020 ◽  
Author(s):  
Hua-Wei Liu ◽  
Dai-Xu Wei ◽  
Da-Wei He ◽  
Jiu-Zheng Deng ◽  
Jian-Jin Zhu ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Chinese Han Population ◽  
Control Group ◽  
Case Group ◽  
Genotype Distribution ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk ◽  
Hardy Weinberg Equilibrium ◽  
And Control

Abstract Background The aim of this study was to investigate whether thymocyte-expressed, positive selection-associated 1 (TESPA1) gene polymorphisms were associated with increased risk of developing ankylosing spondylitis(AS) in a Chinese Han population. Methods A total of 99 AS patients were recruited as case group and 96 healthy individuals were collected as control group. TESPA1 polymorphisms were genotyped by polymerase chain reaction (PCR) and sequencing methods. The genotype distribution of TESPA1 gene rs4758993 and rs4758994 polymorphism was detected by Hardy-Weinberg equilibrium (HWE). The genotype and allele distributions of each polymorphism were also compared between groups. Moreover, odds ratios (OR) with 95% confidence intervals (95%CI) were calculated using the χ2 test to evaluate the association between AS susceptibility and TESPA1 polymorphisms. Results rs4758993 and rs4758994 polymorphisms were conformed to be in HWE in genotypes distribution of the control group (P > 0.05 for both). A remarkable decrease trend of rs4758993 AG genotype and A allele were detected in AS patients than in healthy controls (P = 0.01 and 0.02, respectively), indicating that they obviously decreased the risk of AS in a Chinese Han population (OR = 0.303, 95%CI = 0.144–0.637; OR = 0.002, 95%CI = 0.173–0.703). However, No significant differences were detected for TESPA1 gene rs4758994 polymorphism in both genotype and allele distributions between case and control groups (P > 0.05). Conclusions Our findings suggest that TESPA1 gene rs4758993 polymorphism was significantly associated with AS susceptibility in the Chinese Han population and the mutant A allele severed as a protect factor for the development of AS.

scholarly journals The Association between theLPAGene Polymorphism and Coronary Artery Disease in Chinese Han Population

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Zi-Kai Song ◽  
Hai-Di Wu ◽  
Hong-Yan Cao ◽  
Ling Qin
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Chinese Han Population ◽  
Control Group ◽  
Case Group ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk ◽  
Artery Disease ◽  
The Relationship

Lp(a) has been well known as an independent risk factor for coronary artery disease (CAD). TheLPAgene, as it encodes apo(a) of the Lp(a) lipoprotein particle, was associated with increased risk of CAD. The purpose of this study was to analyze the relationship between the polymorphisms ofLPAgene and CAD in Chinese Han population. Five SNPs (rs1367211, rs3127596, rs6415085, rs9347438, and rs9364559) in theLPAgene were genotyped using Sequenom MassARRAY time-of-flight mass spectrometer (TOF) in 560 CAD patients as case group and 531 non-CAD subjects as control group. The numbers of these two groups were from Chinese Han ancestry. The results showed that allele (P=0.046) and genotype (P=0.026) of rs9364559 in theLPAgene was associated with CAD. The frequency of rs9364559 minor allele (G) in case group was obviously higher than that in control group. Results of haplotype analysis showed that 4 haplotypes which contained rs9364559-G were associated with increased risk of CAD in this population. This study explored rs9364559 in theLPAgene may be associated with the pathogenesis of CAD; and the risk of CAD might be higher in the population carrying 4 haplotypes of different blocks in theLPAgene.

scholarly journals Associations of VDR gene polymorphisms with risk of coal workers’ pneumoconiosis in Chinese Han population

2020 ◽  
Vol 9 (4) ◽  
pp. 399-405
Author(s):  
Xi Yang ◽  
Meiting Qin ◽  
Shanshan Cui ◽  
Qi Zhang
Keyword(s):  
High Performance ◽  
Chinese Han Population ◽  
Control Group ◽  
Case Group ◽  
Multifactor Dimensionality Reduction Analysis ◽  
Chinese Han ◽  
Vdr Gene ◽  
Han Population ◽  
Vdr Gene Polymorphisms ◽  
Vdr Polymorphisms

Abstract Some studies showed that the polymorphisms of vitamin D receptor (VDR) gene were associated with pulmonary diseases. However, the relationship between the VDR variations and susceptibility to coal worker’s pneumoconiosis (CWP) remains unclear. The study aimed to determine the associations between VDR polymorphisms and susceptibility to CWP in Chinese Han population. The study involved 340 CWP patients and 312 healthy controls. The VDR polymorphisms were determined by DNA sequencing, and serum 25(OH)2D levels were detected by Ultra High-Performance Liquid Chromatography-Tandem Mass Spectrometry. The results showed that the VDR gene ApaI T allele increased the risk of CWP (OR = 1.486, 95% CI = 1.125–1.963, P = 0.006) and ApaI GT genotype as well as TT genotype increased the risk of CWP (GT vs. GG, OR = 1.461, 95% CI = 1.048–2.038, P = 0.025; TT vs. GG, OR = 2.673, 95% CI = 1.017–7.025, P = 0.039). Five haplotypes were identified and we found that the TGGT haplotype was associated with a lower risk of CWP (OR = 0.755, 95% CI = 0.603–0.946, P = 0.014). Meanwhile, multifactor dimensionality reduction analysis showed that the interaction between ApaI and exposure was the strongest, followed by TaqI and then BsmI. The study also found that the serum 25(OH)2D mean levels of the case group were significantly lower than that of the control group, and the serum 25(OH)2D mean levels of ApaI homozygous mutant and heterozygous mutant subjects were lower than that of the wild homozygosity, respectively (P &lt; 0.001). The results suggested that ApaI T allele and GT or TT genotype and lower 25(OH)2D levels were increased the risk of CWP in Chinese Han population.

scholarly journals Association of EAAT1 and EAAT2 Genes Polymorphism With Schizophrenia in Chinese Han Population

2021 ◽  
Author(s):  
Lina Wang ◽  
Tantan Ma ◽  
Dongdong Qiao ◽  
Kaiyan Cui ◽  
Xiaojiao Bi ◽  
...  
Keyword(s):  
Family History ◽  
Verbal Learning ◽  
Chinese Han Population ◽  
Control Group ◽  
Chinese Han ◽  
Han Population ◽  
Demographic Questionnaire ◽  
Syndrome Scale ◽  
Schizophrenic Patients ◽  
History Of

Abstract Background: Previous studies have linked schizophrenia to EAAT1 and EAAT2 genes. The aim of this study was to investigate the relationship between polymorphism of these two genes and schizophrenia in Chinese Han population. Methods: A total of 233 schizophrenic patients and 342 healthy controls were enrolled. Six SNPs including rs2269272、rs2731880、rs12360706、rs3088168、rs12294045、rs10836387 were genotyped by SNaPshot. Clinical features were collected using a general demographic questionnaire. Symptoms were measured by the Positive and Negative Syndrome Scale (PANSS), and cognitive function was assessed by Matrics Consensus Cognitive Battery (MCCB). Results: The allele frequency of EAAT1 rs2731880 was significantly different between patients and controls (c2=4.205, R=0.040). The allele and genotype frequency of EAAT2 rs12294045 were significantly different between case and control group (allele:c2 = 8.144，R = 0.004; genotype: c2 = 8.054, R = 0.02). Patients with family history of psychosis were more likely to have the CT genotype of rs12294045 than patients without family history of psychosis，while patients with CT genotype of rs12294045 had significantly lower scores of verbal learning and working memory.Conclusions: The polymorphism of EAAT1 and EAAT2 genes in Chinese Han population may be associated with schizophrenia. The CT genotype of EAAT2 rs12294045 may be one of the risk factors for verbal learning memory and working operational memory dysfunction in patients.

scholarly journals Association of HOTAIR Polymorphisms with Susceptibility to Psoriasis in a Chinese Han Population

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Xinyu Yao ◽  
Siyu Hao ◽  
Tiankuo Xue ◽  
Keren Zhou ◽  
Yu Zhang ◽  
...  
Keyword(s):  
Noncoding Rna ◽  
Chinese Han Population ◽  
Control Group ◽  
Case Group ◽  
Common Disease ◽  
Clinical Value ◽  
Chinese Han ◽  
Han Population ◽  
Significant Difference ◽  
Model C

Psoriasis is a common disease in dermatology, but its etiology and pathogenesis have not been fully elucidated. In recent years, researchers have found that HOX transcript antisense RNA (HOTAIR) plays an important role in biological processes as an important long-chain noncoding RNA (lncRNA). The goal of this study was to investigate the association between HOTAIR polymorphisms and psoriasis in a Chinese Han population by screening key candidate single-nucleotide polymorphism (SNPs) sites in HOTAIR. A total of 269 patients diagnosed with psoriasis and 273 healthy control subjects were enrolled in this case-control study. Three SNPs of HOTAIR were genotyped: SNP1 (rs12826786), SNP2 (rs1899663), and SNP3 (rs4759314). All polymorphisms were in Hardy-Weinberg equilibrium in both the control and patient groups, and the SNPs were in linkage disequilibrium. The distribution of the rs4759314 genotype in the control group and case group was statistically significant according to all the models except the recessive model (adjusted p value < 0.05), and the CCG haplotype group had a significant difference ( OR   95 % CI = 2.907   1.344 − 6.289 , adjusted p value = 0.0263). rs12826786 was associated with a risk of psoriasis according to the dominant model (C/T-T/T vs. C/C: OR   95 % CI = 0.70   0.48 − 1.01 , adjusted p value = 0.049) and overdominant model (C/T vs. C/C-T/T: OR   95 % CI = 0.69   0.47 − 1.01 , adjusted p value = 0.048). The current work showed that a genomic variant within HOTAIR was associated with a risk of psoriasis, and the clinical value of this study should be further evaluated in the future.

scholarly journals Case-control Study on p73 rs1801173 C > T Gene Polymorphism and Susceptibility to Gastric Cancer in a Chinese Han Population

2020 ◽  
Author(s):  
Xuyu Gu ◽  
Xiaoyan Wang ◽  
Huiwen Pan ◽  
Zhenjun Gao ◽  
Guowen Ding ◽  
...  
Keyword(s):  
Frequency Distribution ◽  
Case Control Study ◽  
Case Control ◽  
Chinese Han Population ◽  
Control Group ◽  
Case Group ◽  
Chinese Han ◽  
Han Population ◽  
Significant Difference ◽  
Control Study

Abstract Objective: This study aimed to investigate the association between p73 C14T (rs1801173) polymorphism and the risk of GC in a Chinese Han population. Methods: A hospital-based case-control study was conducted. A total of 577 GC cases and 678 normal controls were recruited. Their genotypes were determined using the SnapShot method. Results: The genotype frequency distribution of the case group and the control group were consistent with the Hardy–Weinberg equilibrium. No significant difference was found in the distribution of gender, age, and drinking history between the case group and the control group. A correlation was observed between smoking and the incidence of GC (P = 0.006). Three genotypes of CC, CT, and TT were found in the rs1801173 locus of p73. The distribution of the dominant model/recessive model did not significantly differ (P = 0.688; 0.937). No statistical difference was found even after adjustment was performed via logistic regression analysis (P = 0.703; 0.990). The frequency distribution between the two groups also did not significantly differ (P = 0.763). Conclusion: Smoking is related to the occurrence and development of GC. No association was found between p73 rs1801173 C > T SNP and the risk of GC in a Chinese Han population. However, additional larger studies and tissue-specific biological characterization are required to confirm these findings.

scholarly journals Relationship between ADAMTS14/rs4747096 gene polymorphism and knee osteoarthritis in Chinese population

2018 ◽  
Vol 38 (5) ◽  
Author(s):  
Sen Ma ◽  
Cheng Ouyang ◽  
Shuxin Ren
Keyword(s):  
Gene Polymorphism ◽  
Knee Osteoarthritis ◽  
Chinese Han Population ◽  
Control Group ◽  
Case Group ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Genotype Frequencies

To investigate the association between single nucleotide polymorphisms (SNPs) of A disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS) 14 (ADAMTS14) gene and susceptibility to knee osteoarthritis (KOA) in Chinese Han population. Using a case–control design, we enrolled 346 KOA patients and 480 healthy controls. Peripheral blood samples were extracted from each subject. Genotype was determined by sequencing PCR products. The genotype frequencies between cases and controls were compared. The genotype distribution was in accordance with Hardy–Weinberg equilibrium. The minor G allele in case group was significantly higher than in the control group (21.4 compared with 8.8%, P=0.000, odds ratio (OR) = 1.71 (95% confidence interval (CI): 1.39–2.11). The GG genotype and the GG/AG combination were more common in the osteoarthritis (OA) group than in the control group. Compared with AA genotype, the GG (OR = 3.09, 95%CI: 2.01–4.75), AG (OR = 2.55, 95%CI: 1.64–3.96), and GG/AG (OR = 1.57, 95%CI: 1.19–2.07) increased the risk of OA. Multiple logistic confirmed the findings by adjusting some potential factors. Subgroup analysis indicated that the ras4747096 was still significantly associated with KOA. There were no significant differences in allele frequency or genotypes frequency for erythrocyte sedimentation rate and C-reaction protein in OA patients (P>0.05). ADAMTS14 gene polymorphism was associated with KOA, and the GG genotype increased the risk of KOA in Chinese Han population. The ADAMTS14 may be a diagnostic marker and therapeutic target for KOA treatment. The future study should explore the specific molecular mechanism.

scholarly journals MUTYH and ORAI1 polymorphisms are associated with susceptibility to osteoarthritis in the Chinese Han population

2018 ◽  
Vol 46 (6) ◽  
pp. 2292-2300 ◽  
Author(s):  
Shifeng Zhang ◽  
Haohui Guo ◽  
Da Chen ◽  
Xi Chen ◽  
Qunhua Jin
Keyword(s):  
Calcium Release ◽  
Chinese Han Population ◽  
Enzyme Linked Immunosorbent Assay ◽  
Control Group ◽  
Study Group ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
And Gender ◽  
And Control

Background This study analyzed the associations between single nucleotide polymorphisms (SNPs) in the mutY homolog gene ( MUTYH) and the calcium release-activated calcium channel gene ( ORAI1) with susceptibility to osteoarthritis in the Chinese Han population. Methods A total of 350 patients diagnosed with osteoarthritis from October 2013 to May 2016 were selected as the study group, together with 350 age- and gender-matched healthy controls. MUTYH SNP rs3219463 and ORAI1 SNPs rs712853, rs12313273, rs6486795, rs12320939, and rs7135617 were analyzed by Sanger sequencing. Serum MUTYH levels were measured by enzyme-linked immunosorbent assay. The relationship between SNPs in MUTYH and ORAI1 and osteoarthritis susceptibility was analyzed and compared with the level of serum MUTYH in the osteoarthritis and control groups. Results MUTYH rs3219463 G allele carriers (GG or GA genotypes) and ORAI1 rs7135617 T allele carriers had a higher risk of osteoarthritis than patients with other genotypes. The level of serum MUTYH in the study group was significantly higher than in the control group (22.05 ± 19.14 ng/mL vs. 14.15 ± 13.54 ng/mL). Conclusions MUTYH and ORAI1 SNPs are associated with osteoarthritis susceptibility in the Chinese Han population.

scholarly journals Lack of association between polymorphisms in the UBASH3A gene and autoimmune thyroid disease: a case control study

2014 ◽  
Vol 58 (6) ◽  
pp. 640-645 ◽  
Author(s):  
TianTian Cai ◽  
Xuan Wang ◽  
Fatuma-Said Muhali ◽  
RongHua Song ◽  
XiaoHong Shi ◽  
...  
Keyword(s):  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Chinese Han Population ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Autoimmune Thyroid ◽  
Allelic Frequencies ◽  
Significant Difference

Objective: The aim of this study was to investigate UBASH3A gene variation association with autoimmune thyroid disease and clinical features in a Chinese Han population. Subjects and methods: A total of 667 AITD patients (417 GD and 250 HT) and 301 healthy controls were genotyped for two single nucleotide polymorphisms (SNPs) rs11203203, rs3788013 of UBASH3A gene, utilizing the Matrix Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometer (MALDI-TOF-MS) Platform. Results: Between the control group and AITD, GD and HT group, no statistically significant difference was observed in the genotypic and allelic frequencies of the two SNPs. There was no significant difference in allelic frequencies of the two SNPs between GD with and without ophthalmopathy. There was no significant difference in haplotype distributions between the control group and AITD, GD or HT group. Conclusion: Rs11203203 and rs3788013 in UBASH3A gene may not be associated with AITD patients in Chinese Han population.

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