Association of Glutamate Receptor Metabotropic 5 Gene (Grm5) Polymorphisms With Schizophrenia Susceptibility and Symptoms in a Chinese-Han Population

2021 ◽  
Author(s):  
Wenqiang Li ◽  
Xi Su ◽  
Xiaoge Guo ◽  
Qing Liu ◽  
Luwen Zhang ◽  
...  
Keyword(s):  
Glutamate Receptor ◽  
Negative Symptoms ◽  
Metabotropic Glutamate Receptor ◽  
Chinese Han Population ◽  
Control Group ◽  
Receptor Subtype ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Association Analyses ◽  
Han Population

Abstract Objectives: Metabotropic glutamate receptor subtype 5 (mGluR5) is a potential target for the treatment of schizophrenia (SZ), with the evidence that mGluR5 modulates glutamatergic signaling through the NMDA receptor (NMDAR). Recently it was reported that the GRM5 gene (encoding mGluR5) is associated with SZ in the Scottish population. Methods: Here, case-control association analyses were performed in the Chinese-Han population to investigate if GRM5 gene is implicated in SZ. Twenty-four single nucleotide polymorphisms (SNPs) were analyzed in 528 paranoid SZ and 528 control subjects.Results: The genotypic and allelic frequencies of two SNPs, rs567990 and rs12421343 were significantly different between the case and control group (Genotype P = 0.007 and 0.011; Allele P = 0.003 and 0.021; respectively). The frequency of rs504183 allele was associated with SZ (P = 0.030). When subjects were stratified by gender, the rs12422021, rs567990, rs12421343, and rs7101540 remained significantly associated with SZ in female patients. Analysis of clinical features of SZ, as measured by the Positive and Negative Syndrome Scale (PANSS) inventory, displayed association of GRM5 to features of the general phenotype of SZ, including traits representing delusions, hallucinations and negative symptoms. Conclusion: In conclusion, our study provides further evidence that GRM5 is associated with SZ, and implies a putative sex difference for the effect of the gene.

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.

scholarly journals Correlation between miRNA target site polymorphisms in the 3′ UTR of AVPR1A and the risk of hypertension in the Chinese Han population

2019 ◽  
Vol 39 (5) ◽  
Author(s):  
Liuping Zhang ◽  
Jinwei Liu ◽  
Peng Cheng ◽  
Fangchao Lv
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Mirna Target ◽  
Direct Sequencing ◽  
Chinese Han Population ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Increased Risk

Abstract We aimed to study the relationship between rs11174811 and rs3803107 single nucleotide polymorphisms (SNPs) in miRNA target sites of the 3′ UTR in the arginine vasopressin receptor 1a gene (AVPR1A) and the risk of hypertension in the Chinese Han population. The genotypes at rs11174811 and rs3803107 were analyzed by direct sequencing in 425 Chinese Han patients with hypertension and 425 healthy subjects. AVPR1A expression was investigated by transfecting miR-526b, miR-375, and miR-186 mimics into human umbilical vein endothelial cells (HUVECs) containing AVPR1A rs11174811 CC, CA/AA and AVPR1A rs3803107 GG, GA/AA genotypes. The A alleles of rs11174811 (adjusted OR = 1.424, 95% CI: 1.231–1.599, P<0.001) and rs3803107 (adjusted OR = 1.222, 95% CI: 1.092–1.355; P=0.001) were high risk factors for hypertension. Plasma levels of miR-526b, miR-375, and miR-186 were higher in the study group than in the control group (P<0.001). The expression levels of AVPR1A mRNA in AVPR1A rs11174811 and rs3803107 mutant HUVECs were higher than those in wild-type cells (t = 8.811, 4.068 and P=0.001, 0.015, respectively). The single nucleotide polymorphisms rs11174811 and rs3803107 in the AVPR1A gene are associated with an increased risk of hypertension in the Chinese Han population. This may be related to the effect of these variants on the regulation of AVPR1A expression by miRNAs.

scholarly journals A Study of IL-1β, MMP-3, TGF-β1, and GDF5 Polymorphisms and Their Association with Primary Frozen Shoulder in a Chinese Han Population

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Wenxiang Chen ◽  
Jia Meng ◽  
Hong Qian ◽  
Zhantao Deng ◽  
Shuo Chen ◽  
...  
Keyword(s):  
Inflammatory Diseases ◽  
Frozen Shoulder ◽  
Chinese Han Population ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Serum Samples ◽  
Chinese Han ◽  
Han Population ◽  
Genotype Frequencies ◽  
Uncertain Etiology

Primary frozen shoulder (PFS) is a common condition of uncertain etiology that is characterized by shoulder pain and restriction of active and passive glenohumeral motions. The pathophysiology involves chronic inflammation and fibrosis of the joint capsule. Single nucleotide polymorphisms (SNPs) at IL-1β, MMP3, TGF-β1, and GDF5 have been associated with risk of a variety of inflammatory diseases; however, no studies have examined these SNPs with susceptibility to PFS. We investigated allele and genotype frequencies of rs1143627 at IL-1β, rs650108 at MMP-3, rs1800469 at TGF-β1, and rs143383 at GDF5 in 42 patients with PFS and 50 healthy controls in a Chinese Han population. Serum samples from both cohorts were evaluated to determine the expression levels of IL-1β. We found that the IL-1β rs1143627 CC genotype was associated with a decreased risk of PFS compared to the TT genotype (P=0.022) and that serum IL-1β was expressed at a significantly higher level in the PFS cohort compared to that found in the control group (P<0.001). Our findings indicated no evidence of an association between rs650108, rs1800469, or rs143383 and PFS. IL-1β is associated with susceptibility to PFS and may have a role in its pathogenesis in a Chinese Han population.

NOTCH4 Single-Nucleotide Polymorphism Is Associated With Brain Arteriovenous Malformation in a Chinese Han Population

2021 ◽  
Author(s):  
Jianbo Zhang ◽  
Zhenjun Li ◽  
Haiyan Fan ◽  
Hengxian Su ◽  
Hongliang Meng ◽  
...  
Keyword(s):  
Arteriovenous Malformation ◽  
Gene Polymorphisms ◽  
Vascular Malformations ◽  
Chinese Han Population ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Genotype Frequencies

Abstract Background: Brain arteriovenous malformations (BAVMs) are high-flow intracranial vascular malformations characterized by the direct connection of arteries to veins without an intervening capillary bed. It is one of the main causes of intracranial hemorrhage and epilepsy though morbidity is low. Angiogenesis, heredity, inflammation, and arteriovenous malformation syndromes play important roles in BAVM formation. Animal experiments and previous studies have confirmed that NOTCH4 may be associated with BAVM development. Our study identifies a connection between NOTCH4 gene polymorphisms and BAVM in a Chinese Han population.Methods: We enrolled 150 patients with BAVMs confirmed by digital subtraction angiography (DSA) in the Department of Neurosurgery, Zhujiang Hospital, Southern Medical University from June 2017 to July 2019. Simultaneously, 150 patients without cerebrovascular disease were confirmed by computed tomography angiography/magnetic resonance angiography/DSA. DNA was extracted from peripheral blood and NOTCH4 genotypes were identified by PCR-ligase detection reaction. Chi-square test or Fisher’s exact test was used to evaluate the difference in allele and genotype frequencies between the BAVM group, control group, bleeding, and other complications.Results: Two single-nucleotide polymorphisms (SNPs), rs443198 and rs438475, were significantly associated with BAVM. No SNP genotypes were significantly associated with hemorrhage and epilepsy. SNPs rs443198_ AA-SNP and rs438475_ AA-SNP may be associated with lower risk of BAVM (P = 0.011, OR = 0.459, 95% CI 0.250–0.845; P = 0.033, OR = 0.759, 95% CI 0.479–1.204).Conclusion: NOTCH4 gene polymorphisms were associated with BAVM and may be a risk factor in a Chinese Han population.

scholarly journals Association of GTF2I, NFKB1, and TYK2 Regional Polymorphisms With Systemic Sclerosis in a Chinese Han Population

2021 ◽  
Vol 12 ◽  
Author(s):  
Chenxi Liu ◽  
Songxin Yan ◽  
Haizhen Chen ◽  
Ziyan Wu ◽  
Liubing Li ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Genetic Model ◽  
Additive Model ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Association Analyses ◽  
Han Population ◽  
Increased Risk

ObjectivesSystemic sclerosis (SSc) is an uncommon autoimmune disease that varies with ethnicity. Single nucleotide polymorphisms (SNPs) in the GTFSI, NFKB1, and TYK2 genes have been reported to be associated with SSc in other populations and in individuals with various autoimmune diseases. This study aimed to investigate the association between these SNPs and susceptibility to SSc in a Chinese Han population.MethodA case-control study was performed in 343 patients with SSc and 694 ethnically matched healthy controls. SNPs in GTF2I, NFKB1, and TYK2 were genotyped using a Sequenom MassArray iPLEX system. Association analyses were performed using PLINK v1.90 software.ResultOur study demonstrated that the GTF2I rs117026326 T allele and the GTF2I rs73366469 C allele were strongly associated with patients with SSc (P = 6.97E-10 and P = 1.33E-08, respectively). Patients carrying the GTF2I rs117026326 TT genotype and the GTF2I rs73366469 CC genotype had a strongly increased risk of SSc (P = 6.25E-09 and P = 1.67E-08, respectively), and those carrying the NFKB1 rs1599961 AA genotype had a suggestively significantly increased risk of SSc (P = 0.014). Moreover, rs117026326 and rs73366469 were associated with SSc in different genetic models (additive model, dominant model, and recessive model) (P &lt; 0.05) whereas rs1599961 was associated with SSc in the dominant genetic model but not in the addictive and recessive models (P = 0.0026). TYK2 rs2304256 was not significantly associated with SSc in this study.ConclusionGTF2I rs117026326 and rs73366469 SNPs were strongly associated with SSc in this Chinese Han population. NFKB1 rs1599961 showed a suggestive association with SSc, and no significant association was found between TYK2 rs2304256 and SSc in this Chinese Han population.

scholarly journals Association Study of Single Nucleotide Polymorphisms inXRCC1Gene with Risk of Hepatocellular Carcinoma in Chinese Han Population

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Jingwang Bi ◽  
Chen Zhong ◽  
Kainan Li ◽  
Huili Chu ◽  
Baocheng Wang
Keyword(s):  
Hepatocellular Carcinoma ◽  
Genetic Variants ◽  
Chinese Han Population ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Association Analyses ◽  
Han Population ◽  
Genotype Frequencies ◽  
Increased Risk

Hepatocellular carcinoma (HCC) is one of the most frequently causing cancer-related deaths worldwide. Previous evidence suggests that the X-ray repair cross-complementing group 1 gene (XRCC1) is an important candidate gene for influencing the risk of HCC. The aim of this study was to assess the association ofXRCC1genetic polymorphisms with the risk of HCC in Chinese Han population. A total of 1314 subjects, including 651 HCC patients and 663 healthy controls, were enrolled in this case-control study. Two genetic variants (c.1254C>T and c.1517G>C) inXRCC1gene were genotyped by created restriction site-polymerase chain reaction (CRS-PCR) and PCR-restriction fragment length polymorphism (PCR-RFLP) methods. Our data indicated that the allele and genotype frequencies of these two genetic variants were statistical difference in HCC cases and healthy controls. Association analyses suggested that these two genetic variants were statistically associated with the increased risk of HCC in all genetic models (for c.1254C>T, TT versus CC: OR = 2.30, 95% CI 1.61–3.28; CT versus CC: OR = 1.32, 95% CI 1.05–1.67; TT/CT versus CC: OR = 1.50, 95% CI 1.20–1.86; TT versus CT/CC: OR = 2.00, 95% CI 1.43–2.80; T versus C: OR = 1.47, 95% CI 1.25–1.73; for c.1517G>C, CC versus GG: OR = 1.90, 95% CI 1.34–2.69; GC versus GG: OR = 1.56, 95% CI 1.24–1.97; CC/GC versus GG: OR = 1.63, 95% CI 1.31–2.03; CC versus GC/GG: OR = 1.52, 95% CI 1.10–2.11; C versus G: OR = 1.45, 95% CI 1.23–1.70). The allele-T of c.1254C>T and allele-C of c.1517G>C genetic variants may contribute to HCC susceptibility in Chinese Han population.

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 Effects of in IL-1B/IL-1RN variants on the susceptibility to head and neck cancer in a chinese Han population

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yanhai Yin ◽  
Fen Li ◽  
Liangqian Tong ◽  
Chunru Chen ◽  
Bo Yuan
Keyword(s):  
Logistic Regression ◽  
Head And Neck Cancer ◽  
Head And Neck ◽  
Genetic Association ◽  
Neck Cancer ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Logistic Regression Models

Abstract Background The study aimed to evaluate the relationship of IL-1B/IL-1RN polymorphisms to the predisposition of head and neck cancer (HNC) in a Chinese Han population. Methods Nine single-nucleotide polymorphisms (SNPs) in IL-1B/IL-1RN were genotyped based on Agena MassARRAY platform. Logistic regression models were used to analyze the genetic association between these SNPs and HNC risk by calculating odds ratios (ORs) and 95% confidence intervals (CI). Haplotype analysis were performed using Haploview program and logistic regression model. Results The genetic association between rs1143643 in IL-1B and the higher risk of HNC was found (OR = 1.23, 95% CI 1.04–1.46) in the overall. IL-1RN rs17042888 was related to a reduced risk of HNC in the subjects aged > 46 years (OR = 0.70, 95% CI: 0.50–0.98) and in females (OR = 0.71, 95% CI 0.52–0.98), while rs1143643 increased the predisposition of HNC among females (OR = 1.76, 95% CI 1.13–2.74). Furthermore, rs1143643 had an increased susceptibility to thyroid carcinoma (OR = 1.61, 95% CI 1.10–2.34). Moreover, compared with stage I–II, the frequency of IL-1RN rs452204-AG genotype was lower in patients with stage III–IV. Conclusions IL-1B (rs1143643) and IL-1RN (rs17042888 and rs452204) polymorphisms might be related to the individual susceptibility of HNC in the Chinese Han population. These results might help to improve the understanding of IL-1B and IL-1RN genes in the occurrence of HNC.

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