Association of an asporin repeat polymorphism with ankylosing spondylitis in Han Chinese Population: A case-control study

Objective: To investigate the role of a functional polymorphism consisting of an aspartic acid (D) repeat located in the asporin gene (ASPN) gene in the susceptibility to and clinical outcome of ankylosing spondylitis (AS). Methods: A total of 374 Chinese patients with ankylosing spondylitis and 421 controls of the same ethnic origin matched for age and sex were included in the study. The asporin D repeat polymorphism was genotyped by polymerase chain reaction with a fluorescent primer. Results: Significant differences between AS patients and controls were detected in the distribution of the 7 alleles found in our population. D14 and D16 alleles were significantly over-represented in AS patients (D14, P=0.001, odds ratio (OR)=1.857, 95% confidence interval(CI) 1.27-2.715; and D16, P < 0.0001, OR=2.605, 95% CI 1.75-3.879). D16 over-representation was more common in early-onset patients than in late-onset patients, although the difference did not reach significance (P= 0.071). Conclusion: The results support a role for an asporin D repeat polymorphism in the susceptibility to AS and an influence of this gene on the outcome of the disease. D14 and D16 allele variants of ASPN might be the susceptibility alleles for AS in the Han Chinese population, whereas the D13 allele variant may have a protective effect on the onset of AS.

Download Full-text

Association of TOMM40 Polymorphisms with Late-Onset Alzheimer’s Disease in a Northern Han Chinese Population

NeuroMolecular Medicine ◽

10.1007/s12017-012-8217-7 ◽

2013 ◽

Vol 15 (2) ◽

pp. 279-287 ◽

Cited By ~ 16

Author(s):

Xiao-Ying Ma ◽

Jin-Tai Yu ◽

Wei Wang ◽

Hui-Fu Wang ◽

Qiu-Yan Liu ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Chinese Population ◽

Late Onset ◽

Han Chinese ◽

Han Chinese Population

Download Full-text

Pathogenic variants screening in seventeen candidate genes on 2p15 for association with ankylosing spondylitis in a Han Chinese population

PLoS ONE ◽

10.1371/journal.pone.0177080 ◽

2017 ◽

Vol 12 (5) ◽

pp. e0177080 ◽

Cited By ~ 3

Author(s):

Mengmeng Wang ◽

Lihong Xin ◽

Guoqi Cai ◽

Xu Zhang ◽

Xiao Yang ◽

...

Keyword(s):

Ankylosing Spondylitis ◽

Candidate Genes ◽

Chinese Population ◽

Han Chinese ◽

Han Chinese Population ◽

Pathogenic Variants

Download Full-text

GLIS1rs797906: An Increased Risk Factor for Late-Onset Parkinsons Disease in the Han Chinese Population

European Neurology ◽

10.1159/000337955 ◽

2012 ◽

Vol 68 (2) ◽

pp. 89-92 ◽

Cited By ~ 4

Author(s):

Wei Song ◽

Yong Ping Chen ◽

Rui Huang ◽

Ke Chen ◽

Ping Lei Pan ◽

...

Keyword(s):

Risk Factor ◽

Chinese Population ◽

Late Onset ◽

Han Chinese ◽

Han Chinese Population ◽

Increased Risk

Download Full-text

Association of the aspartic acid-repeat polymorphism in the asporin gene with age at onset of knee osteoarthritis in Han Chinese Population

Journal of Human Genetics ◽

10.1007/s10038-007-0166-x ◽

2007 ◽

Vol 52 (8) ◽

pp. 664-667 ◽

Cited By ~ 20

Author(s):

Dongquan Shi ◽

Takahiro Nakamura ◽

Jin Dai ◽

Long Yi ◽

Jianghui Qin ◽

...

Keyword(s):

Knee Osteoarthritis ◽

Aspartic Acid ◽

Chinese Population ◽

Age At Onset ◽

Han Chinese ◽

Repeat Polymorphism ◽

Han Chinese Population

Download Full-text

IL23R Gene Confers Susceptibility to Ankylosing Spondylitis Concomitant with Uveitis in a Han Chinese Population

PLoS ONE ◽

10.1371/journal.pone.0067505 ◽

2013 ◽

Vol 8 (6) ◽

pp. e67505 ◽

Cited By ~ 22

Author(s):

Hongtao Dong ◽

Qiuming Li ◽

Ying Zhang ◽

Wei Tan ◽

Zhengxuan Jiang

Keyword(s):

Ankylosing Spondylitis ◽

Chinese Population ◽

Han Chinese ◽

Han Chinese Population

Download Full-text

A Promoter Region Polymorphism inPDCD-1Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China

International Journal of Genomics ◽

10.1155/2014/247637 ◽

2014 ◽

Vol 2014 ◽

pp. 1-8 ◽

Cited By ~ 11

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.

Download Full-text