Association and gene-gene interactions study of reelin signaling pathway related genes with autism in the Han Chinese population

2015 ◽  
Vol 9 (4) ◽  
pp. 436-442 ◽  
Author(s):  
Yidong Shen ◽  
Guanglei Xun ◽  
Hui Guo ◽  
Yiqun He ◽  
Jianjun Ou ◽  
...  
Keyword(s):  
Signaling Pathway ◽  
Chinese Population ◽  
Han Chinese ◽  
Gene Interactions ◽  
Han Chinese Population ◽  
Reelin Signaling

scholarly journals Polymorphisms in MicroRNA Target Sites of TGF-β Signaling Pathway Genes and Susceptibility to Allergic Rhinitis

2021 ◽  
pp. 1-9
Author(s):  
Ruo-Xi Chen ◽  
Wen-Min Lu ◽  
Mei-Ping Lu ◽  
Mei-Lin Wang ◽  
Xin-Jie Zhu ◽  
...  
Keyword(s):  
Allergic Rhinitis ◽  
Signaling Pathway ◽  
Chinese Population ◽  
Transforming Growth Factor ◽  
Han Chinese ◽  
Total Serum ◽  
Microrna Target ◽  
Han Chinese Population ◽  
Increased Risk ◽  
Target Sites

Background: The polymorphisms inside microRNA target sites locating in the 3′-UTR region may introduce the micro­RNA-binding changes, which may regulate the gene expression and correlate with the potential diseases. Objectives: We aimed to investigate whether the polymorphisms in microRNA target sites of transforming growth factor beta (TGF-β) signaling pathway genes are associated with the susceptibility of mite-sensitized allergic rhinitis (AR) in a Han Chinese population. Methods: In this case-control study, 454 AR patients and 448 healthy controls were recruited. Three HapMap single-nucleotide polymorphisms (SNPs) were mapped to putative microRNA recognition sites and genotyped by TaqMan allelic discrimination assay. Results: The genotype and allele frequencies of 3 SNPs (rs1590 in TGFBR1; rs1434536 and rs17023107 in BMPR1B) showed lack of significant association with AR. However, in the subgroup analysis, the TG, GG, and TG/GG genotypes of rs1590 exhibited significantly increased risk of AR in the male subgroup (TG: adjusted OR = 1.57, 95% CI = 1.08–2.31; GG: adjusted OR = 1.76, 95% CI = 1.09–2.86; TG/GG: adjusted OR = 1.62, 95% CI = 1.13–2.33). The CT genotypes of rs17023107 might have potential to protect against AR in the patients age of <15 years (adjusted OR = 0.37, 95% CI = 0.14–0.95) and the males (adjusted OR = 0.48, 95% CI = 0.25–0.95). No significant association was found between SNPs and the total serum IgE level. Conclusions: In a Han Chinese population, stratified by age and gender, susceptibility to mite-sensitized AR may be associated with 2 SNPs (rs1590 and rs17023107) in microRNA target sites of TGF-β signaling pathway genes.

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.

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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