scholarly journals Association between C-Maf-inducing protein gene rs2287112 polymorphism and schizophrenia

PeerJ ◽  
2021 ◽  
Vol 9 ◽  
pp. e11907
Author(s):  
Yingli Fu ◽  
Xiaojun Ren ◽  
Wei Bai ◽  
Qiong Yu ◽  
Yaoyao Sun ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
False Discovery Rate ◽  
Chinese Population ◽  
Multiple Comparisons ◽  
Han Chinese ◽  
Type I ◽  
Healthy Controls ◽  
False Discovery Rate Correction ◽  
Han Chinese Population ◽  
False Discovery

Background Schizophrenia is a severely multifactorial neuropsychiatric disorder, and the majority of cases are due to genetic variations. In this study, we evaluated the genetic association between the C-Maf-inducing protein (CMIP) gene and schizophrenia in the Han Chinese population. Methods In this case-control study, 761 schizophrenia patients and 775 healthy controls were recruited. Tag single-nucleotide polymorphisms (SNPs; rs12925980, rs2287112, rs3751859 and rs77700579) from the CMIP gene were genotyped via matrix-assisted laser desorption/ionization time of flight mass spectrometry. We used logistic regression to estimate the associations between the genotypes/alleles of each SNP and schizophrenia in males and females, respectively. The in-depth link between CMIP and schizophrenia was explored through linkage disequilibrium (LD) and further haplotype analyses. False discovery rate correction was utilized to control for Type I errors caused by multiple comparisons. Results There was a significant difference in rs287112 allele frequencies between female schizophrenia patients and healthy controls after adjusting for multiple comparisons (χ2 = 12.296, Padj = 0.008). Females carrying minor allele G had 4.445 times higher risk of schizophrenia compared with people who carried the T allele (OR = 4.445, 95% CI [1.788–11.046]). Linkage-disequilibrium was not observed in the subjects, and people with haplotype TTGT of rs12925980–rs2287112–rs3751859–rs77700579 had a lower risk of schizophrenia (OR = 0.42, 95% CI [0.19–0.94]) when compared with CTGA haplotypes. However, the association did not survive false discovery rate correction. Conclusion This study identified a potential CMIP variant that may confer schizophrenia risk in the female Han Chinese population.

scholarly journals A Promoter Region Polymorphism inPDCD-1Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
CuiPing Liu ◽  
JueAn Jiang ◽  
Li Gao ◽  
XiaoHan Hu ◽  
FengMing Wang ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
T Cells ◽  
Chinese Population ◽  
Direct Sequencing ◽  
Han Chinese ◽  
Chinese Patients ◽  
Sequencing Analysis ◽  
Healthy Controls ◽  
Han Chinese Population ◽  
Increased Risk

Objective. Programmed cell death 1 (PD-1) induces negative signals to T cells during interaction with its ligands and is therefore a candidate gene in the development of autoimmune diseases such as rheumatoid arthritis (RA). Herein, we investigate the association ofPDCD-1polymorphisms with the risk of RA among Chinese patients and healthy controls.Methods. Using the PCR-direct sequencing analysis, 4PDCD-1SNPs (rs36084323, rs11568821, rs2227982, and rs2227981) were genotyped in 320 RA patients and 309 matched healthy controls. Expression of PD-1 was determined in peripheral blood lymphocytes by flow cytometry and quantitative real-time reverse transcriptase polymerase chain reaction.Results. We observed that the GG genotype of rs36084323 was associated with a increased risk for developing RA (OR 1.70, 95% 1.11–2.61,P=0.049). Patients carrying G/G genotype displayed an increased mRNA level of PD-1(P=0.04)compared with A/A genotype and healthy controls. Meanwhile, patients homozygous for rs36084323 had induced basal PD-1 expression on activated CD4+ T cells.Conclusion. ThePDCD-1polymorphism rs36084323 was significantly associated with RA risk in Han Chinese population. This SNP, which effectively influenced the expression of PD-1, may be a biomarker of early diagnosis of RA and a suitable indicator of utilizing PD-1 inhibitor for treatment of RA.

scholarly journals Weak Association Between the Glutamate Decarboxylase 1 Gene (GAD1) and Schizophrenia in Han Chinese Population

2021 ◽  
Vol 15 ◽  
Author(s):  
Luwen Zhang ◽  
Zhen Li ◽  
Qing Liu ◽  
Minglong Shao ◽  
Fuping Sun ◽  
...  
Keyword(s):  
Glutamate Decarboxylase ◽  
Chinese Population ◽  
Case Control ◽  
Han Chinese ◽  
Healthy Controls ◽  
Replication Sample ◽  
Han Chinese Population ◽  
Discovery Sample ◽  
First Onset ◽  
Independent Replication

ObjectivesSchizophrenia (SZ) is a complex psychiatric disorder with high heritability, and genetic components are thought to be pivotal risk factors for this illness. The glutamate decarboxylase 1 gene (GAD1) was hypothesized to be a candidate risk locus for SZ given its crucial role in the GABAergic neurotransmission system, and previous studies have examined the associations of single nucleotide polymorphisms (SNPs) spanning the GAD1 gene with SZ. However, inconsistent results were obtained. We hence examined the associations between GAD1 SNPs and SZ in two independent case-control samples of Han Chinese ancestry.Materials and MethodsTwo Han Chinese SZ case-control samples, referred as the discovery sample and the replication sample, respectively, were recruited for the current study. The discovery sample comprised of 528 paranoid SZ cases (with age of first onset ≥ 18) and 528 healthy controls; the independent replication sample contained 1,256 early onset SZ cases (with age of first onset < 18) and 2,661 healthy controls. Logistic regression analysis was performed to examine the associations between GAD1 SNPs and SZ.ResultsTen SNPs covering GAD1 gene were analyzed in the discovery sample, and two SNPs showed nominal associations with SZ (rs2241165, P = 0.0181, OR = 1.261; rs2241164, P = 0.0225, OR = 1.219). SNP rs2241164 was also nominally significant in the independent replication sample (P = 0.0462, OR = 1.110), and the significance became stronger in a subsequent meta-analysis combining both discovery and replication samples (P = 0.00398, OR = 1.138). Nevertheless, such association could not survive multiple corrections, although the effect size of rs2241164 was comparable with other SZ risk loci identified in genome-wide association studies (GWAS) in Han Chinese population. We also examined the associations between GAD1 SNPs and SZ in published datasets of SZ GWAS in East Asians and Europeans, and no significant associations were observed.ConclusionWe observed weak associations between GAD1 SNPs and risk of SZ in Han Chinese populations. Further analyses in larger Han Chinese samples with more detailed phenotyping are necessary to elucidate the genetic correlation between GAD1 SNPs and SZ.

scholarly journals HLA-B*58:01 and rs9263726 have a linkage, but not absolute linkage disequilibrium in Han Chinese population

2018 ◽  
Vol 33 (5) ◽  
pp. 228-231 ◽  
Author(s):  
Yaling Dou ◽  
Pan Peng ◽  
Congli Cai ◽  
Ali Ye ◽  
Lingjun Kong ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Chinese Population ◽  
Han Chinese ◽  
Han Chinese Population

scholarly journals Stereopsis deficits in patients with schizophrenia in a Han Chinese population

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Li Hui ◽  
Hai Sen Xia ◽  
An Shu Tang ◽  
Yi Feng Zhou ◽  
Guang Zhong Yin ◽  
...  
Keyword(s):  
Chinese Population ◽  
Negative Symptoms ◽  
Clinical Symptoms ◽  
Three Dimensional ◽  
Han Chinese ◽  
Healthy Controls ◽  
Han Chinese Population ◽  
Significant Difference ◽  
Marked Deficit ◽  
Positive And Negative Symptoms

Abstract Although cognitive and sensory deficits have been identified as a core feature of schizophrenia, only a small portion of visual sensorium has been explored. To date, studies on visual system of three-dimensional percepts based on two-dimensional information still are limited. This study is the first to examine the integrity of stereopsis of schizophrenia in a Han Chinese population, and to further investigate the correlation of stereopsis with clinical symptoms. 100 patients with schizophrenia and 80 healthy controls were recruited. We assessed stereoacuity using the Titmus Stereopsis Test and clinical symptoms using Chinese versions of the Scales for the Assessment of Positive and Negative Symptoms (SAPS and SANS). There was a significant difference in log seconds of arc between two groups (p < 0.0001). The percentage of patients with correct stereopsis detection was significantly reduced at 400, 200, 140, 100, 80, 60, 50, and 40 seconds of arc than healthy controls (all, p < 0.01). Log seconds of arc in patients was not correlated with total scores and subscores of SAPS and SANS (all, p > 0.05). Our findings support that patients with schizophrenia have a marked deficit of stereopsis in a Han Chinese population. However, clinical symptoms do not influence stereopsis of schizophrenia.

scholarly journals Lack of Association between Genetic Polymorphisms of JAK-STAT Signaling Pathway Genes and Acute Anterior Uveitis in Han Chinese

2016 ◽  
Vol 2016 ◽  
pp. 1-9
Author(s):  
Ling Cheng ◽  
Hongsong Yu ◽  
Yan Jiang ◽  
Juan He ◽  
Sisi Pu ◽  
...  
Keyword(s):  
Signaling Pathway ◽  
Genetic Polymorphisms ◽  
Anterior Uveitis ◽  
Chinese Population ◽  
Multivariate Logistic Regression Analysis ◽  
Han Chinese ◽  
Healthy Controls ◽  
Acute Anterior Uveitis ◽  
Han Chinese Population ◽  
Stat Signaling

Purpose.This study aimed to investigate the association between single nucleotide polymorphisms (SNPs) of JAK-STAT signaling pathway genes and acute anterior uveitis (AAU) with or without ankylosing spondylitis (AS) in the Han Chinese population.Methods. Eleven SNPs of theJAK1,JAK2,STAT1,IRF1, andNOS2genes were analyzed in 443 AAU patients with AS, 486 AAU patients without AS, and 714 healthy controls. Genotyping was performed by PCR-RFLP assay or TaqMan® probe assay. The Chi-squared (χ2) test and multivariate logistic regression analysis were used to compare the distributions of alleles and genotypes between patients and controls.Pvalues were adjusted using Bonferroni correction.Results. We did not observe significant differences in the genotype and allele frequencies of any SNP between AAU patients with or without AS and healthy controls. Stratification analyses by gender and HLA-B27 status showed a boundary significant association between two SNPs (rs10975003 and rs10758669) inJAK2and AAU (P=0.052andP=0.053, resp.).Conclusions. Our results indicated that genetic polymorphisms of the JAK-STAT signaling pathway genes may not be associated with AAU in the Han Chinese population.

scholarly journals Association of Lipoprotein (a) variants with risk of cardiovascular disease: a Mendelian randomization study

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Juan Xia ◽  
Chunyue Guo ◽  
Kuo Liu ◽  
Yunyi Xie ◽  
Han Cao ◽  
...  
Keyword(s):  
Heart Failure ◽  
Atrial Fibrillation ◽  
Cardiovascular Disease ◽  
Chinese Population ◽  
Left Ventricular Mass Index ◽  
Mendelian Randomization ◽  
Left Ventricular ◽  
Han Chinese ◽  
Han Chinese Population ◽  
Internal Dimension

Abstract Background There is a well-documented empirical relationship between lipoprotein (a) [Lp(a)] and cardiovascular disease (CVD); however, causal evidence, especially from the Chinese population, is lacking. Therefore, this study aims to estimate the causal association between variants in genes affecting Lp(a) concentrations and CVD in people of Han Chinese ethnicity. Methods Two-sample Mendelian randomization analysis was used to assess the causal effect of Lp(a) concentrations on the risk of CVD. Summary statistics for Lp(a) variants were obtained from 1256 individuals in the Cohort Study on Chronic Disease of Communities Natural Population in Beijing, Tianjin and Hebei. Data on associations between single-nucleotide polymorphisms (SNPs) and CVD were obtained from recently published genome-wide association studies. Results Thirteen SNPs associated with Lp(a) levels in the Han Chinese population were used as instrumental variables. Genetically elevated Lp(a) was inversely associated with the risk of atrial fibrillation [odds ratio (OR), 0.94; 95% confidence interval (95%CI), 0.901–0.987; P = 0.012)], the risk of arrhythmia (OR, 0.96; 95%CI, 0.941–0.990; P = 0.005), the left ventricular mass index (OR, 0.97; 95%CI, 0.949–1.000; P = 0.048), and the left ventricular internal dimension in diastole (OR, 0.97; 95%CI, 0.950–0.997; P = 0.028) according to the inverse-variance weighted method. No significant association was observed for congestive heart failure (OR, 0.99; 95% CI, 0.950–1.038; P = 0.766), ischemic stroke (OR, 1.01; 95%CI, 0.981–1.046; P = 0.422), and left ventricular internal dimension in systole (OR, 0.98; 95%CI, 0.960–1.009; P = 0.214). Conclusions This study provided evidence that genetically elevated Lp(a) was inversely associated with atrial fibrillation, arrhythmia, the left ventricular mass index and the left ventricular internal dimension in diastole, but not with congestive heart failure, ischemic stroke, and the left ventricular internal dimension in systole in the Han Chinese population. Further research is needed to identify the mechanism underlying these results and determine whether genetically elevated Lp(a) increases the risk of coronary heart disease or other CVD subtypes.

Technical note: multi-alleles at the DYS385ab locus with high frequency in a Han Chinese population from southwestern China

2021 ◽  
Author(s):  
Jiewen Fu ◽  
Shangyi Fu ◽  
Shiqiang Yin ◽  
Jingliang Cheng ◽  
Xiaoyan Liu ◽  
...  
Keyword(s):  
High Frequency ◽  
Chinese Population ◽  
Technical Note ◽  
Han Chinese ◽  
Southwestern China ◽  
Han Chinese Population

Common variants in IL17F gene contributed to the risk of hip osteoarthritis susceptibility in Han Chinese population

2020 ◽  
Vol 23 (8) ◽  
pp. 1050-1056
Author(s):  
Tianyun Zhao ◽  
Chi Ma ◽  
Wei Wang ◽  
Bin Zhao ◽  
Baopin Xie ◽  
...  
Keyword(s):  
Chinese Population ◽  
Hip Osteoarthritis ◽  
Han Chinese ◽  
Common Variants ◽  
Han Chinese Population

scholarly journals Role of CASP7 polymorphisms in noise-induced hearing loss risk in Han Chinese population

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yanmei Ruan ◽  
Jinwei Zhang ◽  
Shiqi Mai ◽  
Wenfeng Zeng ◽  
Lili Huang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Chinese Population ◽  
Conditional Logistic Regression ◽  
Han Chinese ◽  
Control Group ◽  
Environment Interaction ◽  
Noise Induced Hearing Loss ◽  
Han Chinese Population ◽  
Hearing Thresholds ◽  
Increased Risk

AbstractGenetic factors and gene-environment interaction may play an important role in the development of noise induced hearing loss (NIHL). 191 cases and 191 controls were selected by case–control study. Among them, case groups were screened from workers exposed to noise in binaural high-frequency hearing thresholds greater than 25 dB (A). Workers with hearing thresholds ≤ 25 dB (A) in any binaural frequency band were selected to the control group, based on matching factors such as age, exposure time to noise, and operating position. The blood samples from two groups of workers were subjected to DNA extraction and SNP sequencing of CASP3 and CASP7 genes using the polymerase chain reaction ligase detection reaction method. Conditional logistic regression correction was used to analyze the genetic variation associated with susceptibility to NIHL. There was an association between rs2227310 and rs4353229 of the CASP7 gene and the risk of NIHL. Compared with the GG genotype, the CC genotype of rs2227310 reduced the risk of NIHL. Compared with CC genotype, the TT genotype of rs4353229 reduced the risk of NIHL. Workers carrying the rs2227310GG and rs4353229CC genotype had an increased risk of NIHL compared to workers without any high-risk genotype. There were additive interaction and multiplication interaction between CASP7rs2227310 and CNE, and the same interaction between CASP7rs4353229 and CNE. The interaction between the CASP7 gene and CNE significantly increased the risk of NIHL. The genetic polymorphisms of CASP7rs2227310GG and CASP7rs4353229CC were associated with an increased risk of NIHL in Han Chinese population and have the potential to act as biomarkers for noise-exposed workers.

scholarly journals The ANGPTL8 rs2278426 (C/T) Polymorphism Is Associated with Prediabetes and Type 2 Diabetes in a Han Chinese Population in Hebei Province

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Guangsen Hou ◽  
Yong Tang ◽  
Luping Ren ◽  
Yunpeng Guan ◽  
Xiaoyu Hou ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Chinese Population ◽  
Han Chinese ◽  
Hebei Province ◽  
Control Group ◽  
Chi Square ◽  
Han Chinese Population ◽  
Increased Risk ◽  
Bonferroni Test

Background. Our aim was to investigate the association between the genetics of the angiopoietin protein-like 8 (ANGPTL8) rs2278426 (C/T) polymorphism with prediabetes (pre-DM) and type 2 diabetes (T2DM) in a Han Chinese population in Hebei Province, China. Methods. We enrolled 1,460 participants into this case-control study: healthy controls, n = 524; pre-DM, n = 460; and T2DM: n = 460. Ligase assays on blood samples from all participants were used to identify polymorphisms. Differences in genotype and allele distributions were compared by the chi-square test and one-way analysis of variance, and a post hoc pairwise analysis was performed using the Bonferroni test. The logistic regression technique was adjusted for age, sex, and body mass index. Results. The frequency of the TT (10.9%) genotype was significantly higher in pre-DM patients than in controls (odds ratio [OR] = 1.696, 95% confidence interval [CI] = 1.026–2.802, P = 0.039 ). In the T2DM group, the CT (48%) and TT (15%) genotypes were significantly higher compared with those in the control group (CT : OR = 1.384, 95% CI = 1.013–1.890, P = 0.041 ; TT : OR = 2.530, 95% CI = 1.476–4.334, P = 0.001 ). The frequency of the T allele was significantly higher in the pre-DM (32.8%) and T2DM (39%) groups compared with the control group (26.9%) and was significantly associated with an increased risk of pre-DM (OR = 1.253, 95% CI = 1.017–1.544, P = 0.034 ) and T2DM (OR = 1.518, 95% CI = 1.214–1.897, P = 0.001 ). Furthermore, insulin levels in the pre-DM and T2DM groups were significantly decreased in those with the TT genotype compared with the CC and CT genotypes. Conclusion. ANGPTL8 rs2278426 may be involved in the mechanism of insulin secretion and could lead to an increased risk of pre-DM and T2DM.

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