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The involvement of uracil-DNA glycosylase (UNG) in the pathogenesis of cancer is well documented. In contrast, the role of this protein in rheumatoid arthritis (RA) development is not well defined, although previous studies suggest a possible link between autoimmune diseases and malignancy. Therefore, we aimed to examine whether there is a link between UNG genetic polymorphisms and RA. Our present study investigated the effects of UNG (rs3219218 and rs246079) single nucleotide polymorphisms (SNPs) on RA among Taiwan's Han Chinese population. Polymorphism of the UNG gene was analyzed in 192 controls and 183 RA patients. Genotyping for UNG SNPs was performed by restriction fragment length polymorphism assay. Our data confirmed statistically significant variations in genotype frequency distributions at rs246079 SNP between RA patients and controls (P = 3.05 × 10(-4)). The G allele at rs246079 SNP is a high-risk factor in developing RA (odds ratio [OR] = 1.77; 95% confidence interval [CI] = 1.290-2.42). A comparison of haplotype frequencies between the case and the control revealed that RA patients with the Ht2 haplotype are at additional risk for RA development (P = 0.042). Our data yielded new information on UNG polymorphisms associated with RA development and as RA molecular markers. The polymorphisms revealed by the present study merit further investigation.

The involvement of the epidermal growth factor receptor (EGFR) in the pathogenesis of cancer is well documented. In contrast, its role in rheumatoid arthritis (RA) development is not that well defined although previous studies suggested the possible link between autoimmune diseases and malignancy. Therefore, we aimed to examine whether there is a link between the EGFR genetic polymorphisms and the RA. Our study gauged the effects of EGFR (rs11543848 and rs17337023) single-nucleotide polymorphisms (SNPs) on RA among Taiwan’s Han Chinese population. Polymorphism of EGFR gene was analyzed in 188 RA patients and 128 control subjects. Genotyping for EGFR SNPs was performed by restriction fragment length polymorphism (RFLP) assay. Our data confirmed statistically significant increased risk of RA development in subjects with A carrier at rs17337023 SNP (P

This study examines whether or not MBD4 polymorphism is a marker for rheumatoid arthritis (RA) susceptibility or severity for Chinese patients in Taiwan. This study included 193 patients with RA, while 190 unrelated healthy individuals living in Central Taiwan served as controls. The relationship between MBD4 polymorphism and clinical manifestations of RA was evaluated. For the genotype and allelic frequency of MBD4-1057 polymorphism, there were no statistically significant differences between patients with RA and controls. There were significant differences in the distribution of MBD4-8666 polymorphism frequencies between patients with RA and controls [P = 0.013; P (corrected) (Pc) = 0.039]. There were also significant relationships in the distribution of MBD4-9229 polymorphism genotype between patients with RA and controls (P = 0.007; Pc = 0.021). However, we did not detect any associations for MBD4-1057, MBD4-8666 or MBD4-9229 with rheumatoid factor presence, extra-articular involvement or bone erosion in patients with RA. Results suggest that MBD4-8666 and MBD4-9229, but not MBD4-1057, gene polymorphisms are related to RA in Chinese patients in Taiwan.

We investigated whether there is an association between polymorphism of the CYP17 gene and rheumatoid arthritis in Chinese patients in central Taiwan. Genomic DNA was extracted from the peripheral blood of 146 female and 47 male RA patients, as well as from 42 female and 59 male control subjects; restriction fragment length polymorphism (defined as the A1 and A2 alleles) was then determined. Clinical variables such as rheumatoid factor positivity, extra-articular manifestations, and joint erosion were also investigated for the RA patients. We found that more male RA patients had the A1 allele (P=0.019) and fewer female RA patients the A2 allele than control subjects (P=0.048). In male RA patients, A1 carriers showed more extra-articular manifestations (P=0.048). In female patients, a significant decrease in A2 carriers mainly occurred in the later-onset age group (P=0.024). This study suggests that the A2 allele may significantly decrease the overall risk of developing RA. In women, the protective effect of A2 mainly affects the older age group. In men, the clinical severity of RA may decrease in patients with the A2/A2 genotype.

The purpose of this study was to determine whether toll-like receptor 9 (TLR9) gene polymorphisms were markers of susceptibility to or severity of systemic lupus erythematosus (SLE) in Taiwanese patients. The study included 211 healthy individuals and 167 Chinese patients with SLE. Polymorphisms of TLR9 [rs2066807 and rs187084 (−1486 T/C)] were typed from genomic DNA. The genotypes, allelic frequencies, and carriage rates were compared between patients with SLE and control subjects. The relationship between allelic frequencies and clinical manifestations of 167 patients with SLE was evaluated. There was no statistically significant difference in TLR9 (rs2066807) gene polymorphism, allelic frequency, and carriage rate between the SLE and control groups. However, for the genotype of TLR9 −1486 T/C (rs187084) polymorphism, there was a statistically significant difference between the SLE and the control groups (P < 0.001, χ2 = 15.9). Moreover, there was a significant association between the two groups in allelic frequency and carriage rate of the T allele (P < 0.001, χ2 = 18.5 and P < 0.01, χ2 = 8.06, respectively). We did not detect any association between the TLR9 genotype and the clinical or laboratory profiles in patients with SLE. The results suggest that the TLR9 −1486 T/C (rs187084), but not TLR9 (rs2066807), polymorphism is related to SLE in Taiwanese patients.

Rheumatoid arthritis (RA) is a chronic autoimmune disease and can lead to deformities and severe disabilities, due to irreversible damage of tendons, joints, and bones. Previous study indicated that DNA repair system was involved in the pathology of RA. In this study, we investigated the association of two 8-oxoguanine glycosylase 1 (OGG1) gene polymorphisms (rs159153 and rs3219008) with the susceptibility to RA in 384 Taiwanese individuals (192 patients with RA and 192 controls). Our data showed that statistically significant difference in genotype frequency distributions was found at rs3219008 SNP between patients with RA and control groups (P = 5.6E-0.5). Our data also indicated that individuals with the AG genotype at rs3219008 SNP may have a higher risk of developing RA. We did not observe any statistically significant association of OGG1 haplotype frequencies (rs159153 and rs3219008) with RA progression. The study suggested that OGG1 polymorphisms (rs159153 and rs3219008) are associated with RA progression and that these may be used as molecular markers of RA.

The aim of this study was to examine whether −627 interleukin-10 (IL-10) promoter polymorphism is a marker of susceptibility to or severity of rheumatoid arthritis (RA) in Chinese patients in Taiwan. The study included 198 Chinese patients with RA. One hundred unrelated healthy individuals living in central Taiwan served as the control subjects. The relationship between IL-10 gene polymorphism and clinical manifestations of RA was evaluated. For the genotype, allelic frequency, and carriage rate of IL-10 polymorphism, there were no statistically significant differences found between patients and controls. Furthermore, we did not detect any association of IL-10 genotype with rheumatoid factor (RF), extra-articular involvement, or bone erosion in the RA patients. The lack of association of −627 IL-10 gene polymorphism with RA and the clinical findings in our study implies that the IL-10 gene polymorphism cannot serve as a candidate gene marker for screening RA patients.

The purpose of this study was to examine whether interleukin-1 beta (IL-1beta) promoter and exon 5 gene polymorphisms are markers of susceptibility or clinical manifestations in Taiwanese patients with gout. The study included 196 patients in addition to 103 unrelated healthy control subjects living in central Taiwan. From genomic DNA, polymorphisms of the gene for IL-1beta promoter and IL-1beta exon 5 were typed. Allelic frequencies were compared between the two groups, and the relationship between allelic frequencies and clinical manifestations of gout was evaluated. No significant differences were observed in the allelic frequencies of the IL-1beta promoter between patients with gout and healthy control subjects. Additionally, we did not detect any association of the IL-1beta promoter genotype with the clinical and laboratory profiles of gout patients. However, there was a significant difference between the two groups in terms of hypertriglyceridemia (P=0.0004, chi(2)=12.52, OR 7.14, 95%CI 0.012-0.22). There was also a significant difference in the genotype of IL-1beta exon 5 polymorphism between patients with and without hypertriglyceridemia. Results of the present study suggest that polymorphisms of the IL-1beta promoter and IL-1beta exon 5 are not related to gout patients in central Taiwan.

The aim of this study was to determine how polymorphisms of transporters associated with transporter and antigen processing 1 (TAP1) alleles contributed to the pathogenesis of systemic lupus erythematosus (SLE) in Taiwan. We collected 88 patients with SLE and 104 healthy people for the control group. The polymorphisms were detected as a result of polymerase chain reaction (PCR)-based restriction analysis. Associations between SLE and TAP1 polymorphisms were evaluated. The results revealed no significant differences between the healthy individuals and SLE patients with TAP1-1 (Dpn II) and TAP1-2 (Acc I) polymorphisms ( P=0.10 and 0.36, respectively). However, the G alleles of TAP1-1 and TAP1-2 were significantly more common than the A alleles in serositis of SLE patients (chi(2)=11.16 and P=0.004, chi(2)=8.10 and P=0.02, respectively).

The purpose of this study was to examine whether interleukin-1beta (IL-1beta) (promoter and exon 5) gene polymorphisms were markers of susceptibility or clinical manifestation in Chinese patients with systemic lupus erythematosus (SLE). The study included 52 Chinese patients with SLE. In addition, 103 unrelated healthy individuals living in central Taiwan served as control subjects. From genomic DNA, polymorphisms of the gene for IL-1beta promoter and exon 5 were typed. Allelic frequencies were compared between SLE patients and control subjects. The relationship between allelic frequencies and clinical manifestations of SLE was evaluated. No significant differences were observed in the allelic frequencies of the IL-1beta promoter and IL-1beta exon 5 between patients with SLE and healthy control subjects. Additionally, we did not detect any association of IL-1beta promoter and the exon 5 genotype with the clinical and laboratory profiles in SLE patients. The results from the present study suggest that the polymorphisms of the IL-1beta promoter and IL-1beta exon 5 are not related to SLE patients in Taiwan.

The aim of this study was to investigate the association of tumor necrosis factor alpha (TNFalpha) gene promoter polymorphisms in Chinese patients with rheumatoid arthritis (RA) in central Taiwan. A total of 106 RA patients and 253 normal controls were studied. Polymerase chain reaction (PCR)-based restriction analysis was used to identify A/G polymorphism at position 308 in the promoter region of the TNFalpha, which is located at 6q21.3. For the genotype of TNFalpha-308 polymorphism, there was no statistically significant difference between RA patients and normal controls (Fisher's exact test, P=0.82). Additionally, no statistical association in the distribution of TNFalpha-308 polymorphism between rheumatoid factor (RF)-positive and -negative patients was noted. The lack of an association of TNFalpha-308 polymorphism with RA and RF in our study implies that TNFalpha-308 polymorphism cannot serve as a candidate gene marker for screening RA patients in Taiwan.