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.

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 Association of SRB1, ITGB2 gene polymorphisms with coronary heart disease in Chinese Han population

2018 ◽  
Author(s):  
Yuan Sun ◽  
Tian Long-Wang ◽  
Yong Zeng ◽  
Feng-Ying Gong ◽  
Hui-Juan Zhu ◽  
...  
Keyword(s):  
Coronary Heart Disease ◽  
Heart Disease ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Control Group ◽  
Chinese Han ◽  
Han Population ◽  
Diabetes Status ◽  
Significant Difference ◽  
Equilibrium Test

AbstractBackgroundPrevious studies in mice and humans have implicated the lipoprotein receptor SRB1 in association with atherosclerosis and lipid levels. In our previous proteomics research, the expression of ITGB2 has differences between epicardial and subcutaneous adipose tissue. However, the association between the reported variants and risk of coronary heart disease (CHD) was not confirmed.MethodsWe conducted a case–control study consisted of 496 CHD patients and 367 controls. The two groups are adjusted for age, sex, body mass index, diabetes status and the proportion of dyslipidemia. The genotypes and allele frequency of variants rs838880,rs5888,rs5889 in SRB1 and rs235326,rs2070947,rs2070946 in ITGB2 were determined using Sequenom Mass-ARRAY technology.ResultsThe genotypes frequencies of all the six SNPs were consistent with Hardy-Weinberg Equilibrium test. For gene SRB1 rs838880, there was a significant difference in the alleles frequency(p=0.017), genotype frequency(p=0.0028), recessive model (p=0.000672) between CHD group and control group. For gene ITGB2 rs2070947, there was a significant difference in the recessive model (p=0.03). By comparing the clinical and serum metabolic indexes of SNP sites by genotype we find that among three genotypes of SRB1 rs5888,there were significant difference in the level of dyslipidemia history and serum LPA, among three genotypes of ITGB2 rs235236,there were significant difference in the levels of serum HDL,APOA1 and hypertension history, among three genotypes of ITGB2 rs2070947,there were significant difference in the level of serum APOA1,hsCRP.ConclusionsOur findings indicated that SNP rs838880 of gene SRB1 and rs2070947 of gene ITGB2 are associated with the risk of CHD in Chinese han population.

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.

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