Chen Cp

Single nucleotide polymorphism rs2229634 in the ITPR3 gene is associated with the risk of developing coronary artery aneurysm in children with Kawasaki disease

Kawasaki disease (KD) is the most common form of pediatric vasculitis. Though its etiology is unknown, researchers have suggested that it is related to genetics. The inositol 1,4,5‐triphosphate receptor type 3 (ITPR3) gene has a strong association with the development of type 1 diabetes and, plays a critical role in the development of autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis, and Graves’ disease. The aim of study is to examine the association of ITPR3 polymorphisms with KD risk in Taiwanese children. This study evaluates the single nucleotide polymorphisms (SNP) rs2229634 in the ITPR3 gene with KD in a case‐control study involving 93 KD patients and 680 healthy, gender‐ and age‐matched controls. The frequency of the rs2229634 T/T genotype was significantly higher in KD patients with coronary artery aneurysm (CAA) than in patients without CAA [odds ratio (OR)u2003=u20032.56, 95% confidence interval (95% CI)u2003=u20031.35–4.88, Pu2003=u20030.004]. In addition, KD patients with the T/T genotype elevated mean serum levels of C‐reactive protein compared with patients with the C/C or C/T genotype (12.2u2003mgu2003dL−1 vs. 8.5u2003mgu2003dL−1, Pu2003= 0.036). In conclusion, the results of this study suggest that the rs2229634 SNP in the ITPR3 gene is associated with the risk of CAA formation in Taiwanese KD patients.

Epidermal growth factor receptor (EGFR) gene Bsr I polymorphism is associated with systemic lupus erythematosus

The purpose of this study was to determine if epidermal growth factor receptor (EGFR) gene polymorphism was a marker of susceptibility to or severity of Chinese patients with systemic lupus erythematosus (SLE) in Taiwan. The study included 119 Chinese patients with SLE. One hundred unrelated healthy individuals living in central Taiwan served as control subjects. Polymorphisms of the EGFR Bsr I gene were typed from genomic DNA. The genotypes, allelic frequencies and carriage rates were compared between SLE patients and control subjects. The relationship between allelic frequencies and clinical manifestations of SLE was evaluated. For the genotype of EGFR gene Bsr I polymorphism, there was statistically significant differences between the SLE and control groups (chi-squared test, P = 0.009, ϰ2= 9.21). In addition, there was significant association between the two groups in allelic frequency of the T allele (P = 0.02, ϰ2= 5.27). However, we did not detect any association between EGFR genotype and clinical or laboratory profiles in SLE patients. The results suggest that the EGFR gene Bsr I polymorphism is related to SLE.

Interleukin-1-beta, Interleukin-10, and Tumor Necrosis Factor-alpha in Chinese Patients with Ankylosing Spondylitis

Background/Purpose. To evaluate the relationship between the level of cytokines and the clinical findings in patients with ankylosing spondylitis (AS). Methods. The study enrolled 81 AS patients and 49 healthy adults. The serum levels of Interleukin (IL)-1β, IL-10, and tumor necrosis factor (TNF)-α were determined and compared between patients and control subjects. We also assessed the correlation between the production of cytokines and clinical parameters of the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI). Results. Mean serum IL-1β level was significantly higher in AS patients than in control subjects (195.5±72.4 pg/mL vs 96.3±32.8 pg/mL; p＜0.001). Mean serum TNF-α level was also significantly higher in patients with AS than in controls (85.3±42.1 pg/mL vs 34.3±12.8 pg/mL; p=0.02). However, no significant differences were observed in levels of IL-10 between patients and controls. Furthermore, serum IL-1β and TNF-α levels in the AS patients positively correlated with the parameters in the BASDAI (p=0.007, r=0.32 and p=0.001, r=0.41, respectively). There was also a positive correlation between erythrocyte sedimentation rate and TNF-α (p=0.01; r=0.31). Conclusion. Patients with a high BASDAI have higher levels of circulating TNF-α and IL-1β than patients with a low BASDAI or healthy individuals, suggesting that proinflammatory cytokines may play an important role during active inflammation.