Polymorphism and protein expression of MUTYH gene for risk of rheumatoid arthritis

Shih-Yin Chen,Shih-Yin Chen,Sui-Foon Lo,Ying-Ju Lin,Fuu-Jen Tsai,Hsin-Han Chen,Fuu-Jen Tsai,Hui-Wen Lin,Shih-Ping Liu,Hsin-Han Chen,Fuu-Jen Tsai,Hsin-Han Chen,Chung-Ming Huang,Yu-Chuen Huang,Ying-Ju Lin,Hsin-Han Chen,Fuu-Jen Tsai,Shih-Ping Liu,Yuan-Yen Chang

doi:10.1186/s12891-017-1437-0

Shih-Yin Chen, Shih-Yin Chen + Show 17 more

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https://doi.org/10.1186/s12891-017-1437-0

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BackgroundWe have previously described the association between rheumatoid arthritis (RA) prevalence and the two mutY Homolog (E. coli) (MUTYH) SNPs (rs3219463 and rs3219476) among the Taiwanese population. This present study will aim to elucidate whether the SNPs can alter the expression of EGFR in the progression of RA.MethodsThe cohort study included 368 Taiwan’s Han Chinese RA patients and 364 healthy controls. Blood samples collected from the participants were analyzed to determine their serum MUTYH levels and to identify rs3219463 SNP of MUTYH from their genomic DNA.ResultsOur data resulted in a statistically significant difference in genotype frequency distributions at rs3219463 for RA patients and controls (p < 0.0002). Also, the patients with G carrier at rs3219463 were less likely to suffer from painful joints (p < 0.006) and DAS28 scores (p < 0.003). Furthermore, the increase in serum level of MUTYH was also observed in RA patients (p < 0.005).ConclusionsOur study showed that RA is associated with rs3219463 SNP in EGFR gene and an increased serum level of the MUTYH protein. These findings suggest MUTYH is worthy of further investigation as a therapeutic target for RA.

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We have previously described the association between rheumatoid arthritis (RA) prevalence and the two mutY Homolog (E. coli) (MUTYH) Single nucleotide polymorphisms (SNPs) among the Taiwanese population
We observed G allele to be the major allele in the population, regardless of whether they were in the patient group or the control group – at rs3219463 SNP site, the G allele frequencies were 57.6% (424 out of 736) for patients and 67.2% (489 out of 728) for the controls
Normal MUTYH Copy number variations (CNVs) in RA patients Blood leukocytes Genomic DNA (gDNA) samples were available from 227 RA patients and 223 healthy controls

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We have previously described the association between rheumatoid arthritis (RA) prevalence and the two mutY Homolog (E. coli) (MUTYH) SNPs (rs3219463 and rs3219476) among the Taiwanese population. This present study will aim to elucidate whether the SNPs can alter the expression of EGFR in the progression of RA. BER is initiated by DNA glycosylases, which recognize and remove specific damaged or mispaired bases, forming AP sites. The association of base excision repair (BER) of oxidative DNA damage and oxidative stress with RA were described previously [6,7,8,9]. We are interested in the enzymes involved in the BER pathway and its association with RA

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