scholarly journals Association of a functional single-nucleotide polymorphism ofPTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus

2005 ◽  
Vol 52 (1) ◽  
pp. 219-224 ◽  
Author(s):  
Gisela Orozco ◽  
Elena Sánchez ◽  
Miguel A. González-Gay ◽  
Miguel A. López-Nevot ◽  
Belén Torres ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Systemic Lupus Erythematosus ◽  
Single Nucleotide Polymorphism ◽  
Lupus Erythematosus ◽  
Protein Phosphatase ◽  
Nucleotide Polymorphism ◽  
Systemic Lupus ◽  
Single Nucleotide ◽  
Functional Single Nucleotide Polymorphism

Disease Phenotypes and Gender Association of FCRL3 Single-Nucleotide Polymorphism −169T/C in Taiwanese Patients with Systemic Lupus Erythematosus and Rheumatoid Arthritis

2010 ◽  
Vol 38 (2) ◽  
pp. 264-270 ◽  
Author(s):  
JI-YIH CHEN ◽  
CHIN-MAN WANG ◽  
YEONG-JIAN JAN WU ◽  
SHIN-NING KUO ◽  
CHIUNG-FANG SHIU ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Systemic Lupus Erythematosus ◽  
Single Nucleotide Polymorphism ◽  
Lupus Erythematosus ◽  
Nucleotide Polymorphism ◽  
Systemic Lupus ◽  
Single Nucleotide ◽  
Disease Phenotypes ◽  
And Gender ◽  
Non Destructive

Objective.To investigate the association of the functional FCRL3 single-nucleotide polymorphism (SNP) −169T/C with disease phenotypes and susceptibility to systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Taiwanese.Methods.FCRL3 SNP −169T/C was genotyped in 573 patients with SLE, 670 patients with RA, and 758 controls. Genotype distributions and allele frequencies were compared among the 3 groups as aggregates or as stratified by clinical characteristics, autoantibody profile, and sex within patient groups.Results.Overall, FCRL3 SNP −169T/C was not associated with susceptibility to either SLE or RA. However, −169CC genotype was significantly reduced in leukopenia-positive SLE patients as compared to the leukopenia-negative SLE patients (CC vs CT+TT, p = 6 × 10−4, OR 0.444, 95% CI 0.279–0.708) and controls (p = 6.1 × 10−3, OR 0.583, 95% CI 0.396–0.857). On the other hand, −169TT genotypes were significantly more numerous in RA patients with non-destructive disease as compared with patients with destructive disease (CC+CT vs TT: p = 0.007, OR 1.672, 95% CI 1.149–2.432). The −169T allele frequency was also significantly increased in non-destructive RA compared with patients with destructive disease (C vs T: p = 0.010, OR 1.423, 95% CI 1.089–1.859). FCRL3 SNP −169TT homozygous donors were significantly more numerous among female cyclic citrullinated peptide (CCP)-negative RA patients versus female CCP-positive RA patients (CC+CT vs TT: p = 0.019, OR 1.64, 95% CI 1.085–2.479).Conclusion.The functional FCRL3 SNP −169T/C appears to play important roles in the development of certain phenotypes such as SLE leukopenia and RA disease severity in Taiwanese patients with SLE and RA.

scholarly journals Association of STAT4 rs7582694 with susceptibility to systemic lupus erythematosus in population of Lorestan province, Iran

2018 ◽  
Vol 21 (1) ◽  
pp. 14-18 ◽  
Author(s):  
Gholam Reza Izadkhasti ◽  
Seyed Reza Kazeminezhad ◽  
Mohammad Reza Akhoond
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Single Nucleotide Polymorphism ◽  
Lupus Erythematosus ◽  
Control Group ◽  
Amplification Refractory Mutation System ◽  
Sample Population ◽  
Nucleotide Polymorphism ◽  
Systemic Lupus ◽  
Single Nucleotide ◽  
Increased Risk

Background and aims: Systemic lupus erythematosus (SLE) is a polygenic, inflammatory disease with a complex genetic inheritance that affects almost all the organs and systems of the host body. According to studies, STAT4 is a susceptible gene that can participate in the development of SLE in different populations. The aim of this study was to show the association between rs7582694 single nucleotide polymorphism with increased risk of SLE disease and two serological symptoms of the disease (i.e., anti-dsDNA and ANA) in the population residing in Lorestan province. Methods: The present study was conducted as a case control research. In this study, the prevalence of STAT4 gene G/C (rs7582694) single nucleotide polymorphism (SNP) in the patients with SLE (n=122) and in control group (n=127) was investigated among a sample population from Lorestan province. This SNP was genotyped based on using two methods including PCR-RFLP (polymerase chain reactionrestriction fragment length polymorphism) and tetra-primer ARMS-PCR (amplification-refractory mutation system) methods. Results: According to the obtained results, the frequency of minor allele C from this SNP (related allele with the disease) as compared to the major allele G (normal allele) was significantly higher in SLE patients than the controls. In addition, it showed a significant association (odds ratio [OR] = 1.623, 95% CI = 1.111-2.370, P = 0.012) with susceptibility to SLE. Moreover, a significant correlation (OR = 2.249, 95% CI = 1.031–4.904, P = 0.042) was found between the rs7582694 CC genotype and the risk of SLE in the population of Lorestan. Conclusion: Overall, based on the results it can be concluded that there was a relationship between the STAT4 gene G/C (rs7582694) SNP and the increased risk of SLE. However, no association was observed between the above-mentioned gene and anti-dsDNA or ANA that are some of the symptoms of SLE.

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