scholarly journals Lack of association of IL-2RA and IL-2RB polymorphisms with rheumatoid arthritis in a Han Chinese population

2013 ◽  
Vol 12 (1) ◽  
pp. 581-586
Author(s):  
J. Zhu ◽  
F. He ◽  
D.D. Zhang ◽  
J.Y. Yang ◽  
J. Cheng ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
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 of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population

2011 ◽  
Vol 70 (10) ◽  
pp. 1793-1797 ◽  
Author(s):  
Patrick Danoy ◽  
Meng Wei ◽  
Hadler Johanna ◽  
Lei Jiang ◽  
Dongyi He ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Association Study ◽  
Chinese Population ◽  
Genome Wide Association Study ◽  
Susceptibility Genes ◽  
Han Chinese ◽  
European Ancestry ◽  
Nucleotide Polymorphisms ◽  
Two Phase ◽  
Han Chinese Population

BackgroundThe genome-wide association study era has made great progress in identifying susceptibility genes and genetic loci for rheumatoid arthritis (RA) in populations of White European ancestry. However, few studies have tried to dissect disease aetiopathogenesis in other ethnic populations.ObjectiveTo investigate these associations in the Han Chinese population.MethodsHaplotypes from the HapMap database Chinese population were used to select tag-single-nucleotide polymorphisms (SNPs) (r2=0.8) across 19 distinct RA genomic regions. A two phase case–control association study was performed, with 169 SNPs genotyped in phase I (n=571 cases, n=880 controls), and 64 SNPs achieving p<0.2 in the first phase being genotyped in phase II (n=464 cases, n=822 controls). Association statistics were calculated using permutation tests both unadjusted and adjusted for the number of markers studied.ResultsRobust association was detected for MMEL1 and CTLA4, and modest association was identified for another six loci: PADI4, STAT4, PRDM1, CDK6, TRAF1-C5 and KIF5A-PIP4K2C. All three markers genotyped in MMEL1 demonstrated association, with peak signal for rs3890745 (p=2.6×10−5 unadjusted, p=0.003 adjusted, OR=0.79). For CTLA4, significance was detected for three of five variants showing association, with peak association for marker rs12992492 (p=4.3×10−5 unadjusted, p=0.0021 adjusted, OR=0.77). Lack of association of common variants in PTPN22 with RA in Han Chinese was confirmed.ConclusionThis study identifies MMEL1 and CTLA4 as RA susceptibility genes, provides suggestive evidence of association for a further six loci in the Han Chinese population and confirms lack of PTPN22 association in Asian populations. It also confirms the value of multiethnic population studies to help dissect disease aetiopathogenesis.

Association of rheumatoid arthritis risk with EGFR genetic polymorphisms in Taiwan’s Han Chinese population

2011 ◽  
Vol 32 (8) ◽  
pp. 2301-2306 ◽  
Author(s):  
Sui-Foon Lo ◽  
Lei Wan ◽  
Hsiu-Chen Lin ◽  
Chung-Ming Huang ◽  
Shih-Yin Chen ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Genetic Polymorphisms ◽  
Chinese Population ◽  
Han Chinese ◽  
Rheumatoid Arthritis Risk ◽  
Han Chinese Population

scholarly journals The role of genetic variants in FCGR2A on the risk of rheumatoid arthritis in the Han Chinese population

2020 ◽  
Author(s):  
Yonghui Yang ◽  
Linna Peng ◽  
Chunjuan He ◽  
Shishi Xing ◽  
Dandan Li ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Chinese Population ◽  
Joint Damage ◽  
Han Chinese ◽  
Nucleotide Polymorphisms ◽  
Male Population ◽  
Han Chinese Population ◽  
Increased Risk ◽  
Chinese Cohort

Abstract Background: Rheumatoid arthritis (RA) is the most common inflammatory arthritis and is characterized by irreversible joint damage and deformities, which is largely caused by genetic factors. The aim of this study was to explore the role of FCGR2A polymorphisms with the susceptibility to RA in the Han Chinese cohort.Methods: We enrolled 506 RA patients and 509 healthy controls, with four single nucleotide polymorphisms (SNPs) successfully genotyped using Agena MassARRAY. Genetic models, haplotype analyses were applied to assess the association between FCGR2A polymorphisms and RA. And we evaluated the relative risk by odds ratios (ORs) and 95% confidence intervals (95% CIs) using logistic regression analysis.Results: The results revealed that FCGR2A rs6668534 was significantly related to an increased risk of RA in the overall (OR = 1.24, 95%CI = 1.04 – 1.48, p = 0.014). There was no any association found between the polymorphisms and RA risk at age > 54 years, while the two (rs6671847 and rs1801274) of the four SNPs possibly contributed to the susceptibility to RA at age ≤ 54 years. And the rs6668534 polymorphism conferred the increased susceptibility to RA in the male population. The haplotypes in the FCGR2A gene was significantly associated with the RA risk.Conclusions: Our research have demonstrated that the FCGR2A gene polymorphisms (rs6671847, rs1801274 and rs6668534) were implicated in RA susceptibility in the Han Chinese population.

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