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.

Association of PTEN genetic polymorphisms with atherosclerotic cerebral infarction in the Han Chinese population

2012 ◽  
Vol 19 (12) ◽  
pp. 1641-1645 ◽  
Author(s):  
Mei Yuan ◽  
Xiaohui Wang ◽  
Qiong Zhan ◽  
Xiaomei Duan ◽  
Qidong Yang ◽  
...  
Keyword(s):  
Cerebral Infarction ◽  
Genetic Polymorphisms ◽  
Chinese Population ◽  
Han Chinese ◽  
Han Chinese Population

Association of ACYP2 and TSPYL6 Genetic Polymorphisms with Risk of Ischemic Stroke in Han Chinese Population

2016 ◽  
Vol 54 (8) ◽  
pp. 5988-5995 ◽  
Author(s):  
Yiqian Liang ◽  
Rui Zhang ◽  
Shuo Zhang ◽  
Guofa Ji ◽  
Puyu Shi ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Genetic Polymorphisms ◽  
Chinese Population ◽  
Han Chinese ◽  
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.

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 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 Association of genetic polymorphisms in IL-1R1 and IL-1R2 genes with IgA nephropathy in the Han Chinese population

Oncotarget ◽  
2017 ◽  
Vol 8 (31) ◽  
pp. 50673-50679 ◽  
Author(s):  
Maowei Xie ◽  
Daofa Zhang ◽  
Yin Zhang ◽  
Xiaohong Yang ◽  
Yan Su ◽  
...  
Keyword(s):  
Iga Nephropathy ◽  
Genetic Polymorphisms ◽  
Chinese Population ◽  
Han Chinese ◽  
Han Chinese Population

scholarly journals TRPV1 genetic polymorphisms and risk of COPD or COPD combined with PH in the Han Chinese population

Cell Cycle ◽  
2020 ◽  
Vol 19 (22) ◽  
pp. 3066-3073 ◽  
Author(s):  
Mingmei Xiong ◽  
Meihua Guo ◽  
Dongjian Huang ◽  
Jing Li ◽  
Yan Zhou
Keyword(s):  
Genetic Polymorphisms ◽  
Chinese Population ◽  
Han Chinese ◽  
Han Chinese Population

scholarly journals Genetic polymorphisms of NOS2 and predisposition to fracture non-union: A case control study based on Han Chinese population

PLoS ONE ◽  
2018 ◽  
Vol 13 (3) ◽  
pp. e0193673 ◽  
Author(s):  
Wei Huang ◽  
Kun Zhang ◽  
Yangjun Zhu ◽  
Zhan Wang ◽  
Zijun Li ◽  
...  
Keyword(s):  
Genetic Polymorphisms ◽  
Chinese Population ◽  
Case Control Study ◽  
Case Control ◽  
Han Chinese ◽  
Han Chinese Population ◽  
Non Union ◽  
Control Study
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