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Characteristics of A20 gene polymorphisms and clinical significance in patients with rheumatoid arthritis.

Zhu L, Wang L, Wang X, Zhou L, Liao Z, Xu L, Wu H, Ren J, Li Z, Yang L, Chen S, Li B, Wu X, Zhou Y, Li Y - J Transl Med (2015)

Bottom Line: Significantly lower A20 mRNA expression was found in PBMCs from RA patients compared with healthy individuals (p < 0.001).Significantly lower A20 expression was found in RA patients.A20 rs2230926 TG genotype and rs146534657 AG genotype may be related to poor outcome in RA patients.

View Article: PubMed Central - PubMed

Affiliation: Department of Rheumatism and Immunology, First Affiliated Hospital, Jinan University, Guangzhou, 510632, China. 125741799@qq.com.

ABSTRACT

Background: There are a number of studies regarding to the susceptibility of A20 SNPs in rheumatoid arthritis (RA); however, a few of these studies have shown an association between polymorphisms in the A20 gene and RA risk in the Chinese population. The aim of this study was to investigate the characteristics of A20 gene polymorphisms, the association between polymorphisms and clinical significance in Chinese RA patients.

Methods: PCR and sequencing were used to identify A20 gene polymorphisms in peripheral blood mononuclear cells (PBMCs) (50 cases), synovial fluid (11 cases) from RA patients and PBMCs from 30 healthy individuals. Quantitative Real-time PCR (qRT-PCR) was used to analyze the A20 mRNA expression in 38 RA patients and 40 healthy individuals. Pearson's Chi square test and two independent-samples Wilcoxon tests were used for statistical analysis.

Results: Eight single nucleotide polymorphisms (SNPs) (rs5029937, rs3799491, rs598493, rs2307859, rs146534657, rs2230926, rs661561, and rs582757) were identified in PBMCs of RA patients. One new mutation (14284 T > A) was identified in synovial fluid mononuclear cells from one RA case. rs146534657 was identified for the first time in two RA cases. Patients with rs146534657 (12411 A > G, Asn102Ser) AG genotype or rs2230926 (12486 T > G, Phe127Cys) TG genotype had poor outcome. Significantly lower A20 mRNA expression was found in PBMCs from RA patients compared with healthy individuals (p < 0.001). There was a higher A20 mRNA expression in RA patients with rs2230926 TG genotype and rs146534657 AG genotype (11.56 ± 7.39) than patients with rs2230926 TT genotype and rs146534657 AA genotype (5.63 ± 4.37) (p = 0.031).

Conclusion: Significantly lower A20 expression was found in RA patients. The polymorphisms of A20 were characterized in RA patients. We detected rs146534657 for the first time and identified a new A20 mutation (14284 T > A). A20 rs2230926 TG genotype and rs146534657 AG genotype may be related to poor outcome in RA patients.

No MeSH data available.


Related in: MedlinePlus

New mutation identified in A20 in synovial fluid from a patient with RA. Arrows indicate sites of nucleotide changes. Wild wild-type, Heter heterozygous.
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Fig3: New mutation identified in A20 in synovial fluid from a patient with RA. Arrows indicate sites of nucleotide changes. Wild wild-type, Heter heterozygous.

Mentions: We further analyzed the characteristics of A20 SNPs in cells from the synovial fluid and PBMCs from 11 cases with RA whose knees were examined for therapeutic purpose at the same time as peripheral blood collection. A total of seven A20 SNPs (rs5029937, rs3799491, rs598493, rs2307859, rs2230926, rs661561 and rs582757) were identified. The identical SNPs in the synovial fluid and peripheral blood were identified in 10 RA cases (Table 4), and a new mutation (14284 T > A) was identified in synovial fluid from only one RA case whose peripheral blood sample did not contain this mutation (Table 4; Figure 3).Table 4


Characteristics of A20 gene polymorphisms and clinical significance in patients with rheumatoid arthritis.

Zhu L, Wang L, Wang X, Zhou L, Liao Z, Xu L, Wu H, Ren J, Li Z, Yang L, Chen S, Li B, Wu X, Zhou Y, Li Y - J Transl Med (2015)

New mutation identified in A20 in synovial fluid from a patient with RA. Arrows indicate sites of nucleotide changes. Wild wild-type, Heter heterozygous.
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4491428&req=5

Fig3: New mutation identified in A20 in synovial fluid from a patient with RA. Arrows indicate sites of nucleotide changes. Wild wild-type, Heter heterozygous.
Mentions: We further analyzed the characteristics of A20 SNPs in cells from the synovial fluid and PBMCs from 11 cases with RA whose knees were examined for therapeutic purpose at the same time as peripheral blood collection. A total of seven A20 SNPs (rs5029937, rs3799491, rs598493, rs2307859, rs2230926, rs661561 and rs582757) were identified. The identical SNPs in the synovial fluid and peripheral blood were identified in 10 RA cases (Table 4), and a new mutation (14284 T > A) was identified in synovial fluid from only one RA case whose peripheral blood sample did not contain this mutation (Table 4; Figure 3).Table 4

Bottom Line: Significantly lower A20 mRNA expression was found in PBMCs from RA patients compared with healthy individuals (p < 0.001).Significantly lower A20 expression was found in RA patients.A20 rs2230926 TG genotype and rs146534657 AG genotype may be related to poor outcome in RA patients.

View Article: PubMed Central - PubMed

Affiliation: Department of Rheumatism and Immunology, First Affiliated Hospital, Jinan University, Guangzhou, 510632, China. 125741799@qq.com.

ABSTRACT

Background: There are a number of studies regarding to the susceptibility of A20 SNPs in rheumatoid arthritis (RA); however, a few of these studies have shown an association between polymorphisms in the A20 gene and RA risk in the Chinese population. The aim of this study was to investigate the characteristics of A20 gene polymorphisms, the association between polymorphisms and clinical significance in Chinese RA patients.

Methods: PCR and sequencing were used to identify A20 gene polymorphisms in peripheral blood mononuclear cells (PBMCs) (50 cases), synovial fluid (11 cases) from RA patients and PBMCs from 30 healthy individuals. Quantitative Real-time PCR (qRT-PCR) was used to analyze the A20 mRNA expression in 38 RA patients and 40 healthy individuals. Pearson's Chi square test and two independent-samples Wilcoxon tests were used for statistical analysis.

Results: Eight single nucleotide polymorphisms (SNPs) (rs5029937, rs3799491, rs598493, rs2307859, rs146534657, rs2230926, rs661561, and rs582757) were identified in PBMCs of RA patients. One new mutation (14284 T > A) was identified in synovial fluid mononuclear cells from one RA case. rs146534657 was identified for the first time in two RA cases. Patients with rs146534657 (12411 A > G, Asn102Ser) AG genotype or rs2230926 (12486 T > G, Phe127Cys) TG genotype had poor outcome. Significantly lower A20 mRNA expression was found in PBMCs from RA patients compared with healthy individuals (p < 0.001). There was a higher A20 mRNA expression in RA patients with rs2230926 TG genotype and rs146534657 AG genotype (11.56 ± 7.39) than patients with rs2230926 TT genotype and rs146534657 AA genotype (5.63 ± 4.37) (p = 0.031).

Conclusion: Significantly lower A20 expression was found in RA patients. The polymorphisms of A20 were characterized in RA patients. We detected rs146534657 for the first time and identified a new A20 mutation (14284 T > A). A20 rs2230926 TG genotype and rs146534657 AG genotype may be related to poor outcome in RA patients.

No MeSH data available.


Related in: MedlinePlus