Elevated serum levels of interleukin-1ß and interleukin-33 in patients with systemic sclerosis in Chinese population.

PURPOSE OF THE STUDY: Systemic sclerosis (SSc) is a multisystem autoimmune disease. Although the pathogenesis of the disease remains incompletely understood, some cytokines or growth factors which regulate SSc induction may be involved in the injury of endothelial cells and the modulation of leukocyte function. We aimed to perform this case-control study to determine serum levels of interleukin (IL)-1α, IL-1ß, IL-18 and IL-33 and their associations with clinical manifestations in SSc patients. MATERIALS AND METHODS: There were 56 patients with SSc and 56 healthy individuals who were recruited from local hospital between 2012 and 2014. Serum IL-1α, IL-1ß, IL-18 and IL-33 levels were measured with specific enzyme-linked immunosorbent assay kits. RESULTS: Univariate analysis revealed that serum IL-1ß, IL-18 and IL-33 levels in SSc patients were significantly higher than that in healthy controls. After adjusting possible confounding factors (sex, age, smoking and drinking) by multivariable analyses, serum IL-1ß levels (OR = 1.082; 95 % CI: 1.013-1.155) and serum IL-33 levels (OR = 1.100; 95 %CI: 1.022-1.185) were still related factors. There were interrelationships among the serum levels of IL-1α, IL-1ß, IL-18 and IL-33 and these associations were not consistent in SSc patients and controls. No associations of serum IL-1α, IL-1ß, IL-18 and IL-33 levels with clinical parameters were found. CONCLUSION: IL-1ß and IL-33 may contribute to the development of SSc. While there were no direct associations between these cytokines and disease manifestations, they still could be considered as serum markers of development of SSc. Further studies are required to validate this incipient data.

Association between IRAK1 rs3027898 and miRNA-499 rs3746444 polymorphisms and rheumatoid arthritis : A case control study and meta-analysis.

BACKGROUND: The IRAK1 and miR-499 polymorphisms play an important role in the etiology of rheumatoid arthritis (RA). Several studies have been carried out to estimate the association between IRAK1 rs3027898 and miR-499 rs3746444 and RA risk; however, the results were inconsistent. AIM: A case control study was carried out to explore the association between IRAK1 rs3027898 and miR-499 rs3746444 and the RA risk in a Chinese population. Meta-analyses combining present with previous studies were conducted to further explore the association. MATERIAL AND METHODS: A total of 386 RA patients were enrolled along with 576 matched healthy controls. Genotyping was performed by using TaqMan genotyping assays on Fluidigm 192.24 system. For the meta-analysis, a systematic literature search was conducted to identify all relevant studies. RESULTS: This case control study showed that the IRAK1 rs3027898 C allele was associated with increased risk of RA with an odds ratio (OR) = 1.4 and 95 % confidence intervals (CI) = 1.093-1.793, P = 0.008 but miR-499 rs3746444 polymorphisms were not significantly associated with the risk for RA. The meta-analyses included a total of 4 case control studies on IRAK1 rs3027898 and 4 studies on miR-499 rs3746444. The IRAK1 rs3027898 C allele had an overall OR of 1.268 (95 % CI = 1.130-1.424, P < 0.001). After stratification by ethnicity the C allele had an OR of 1.238 (95 % CI = 1.096-1.398, P = 0.001) in Asians. No association between miR-499 rs3746444 polymorphism and RA was found in the overall and Asian populations. CONCLUSION: The results from our case control study and the meta-analyses indicate that the IRAK1 rs3027898 C allele is significantly associated with an increased risk of RA, especially in Asians.

Elevated plasma interleukin-37 levels in systemic lupus erythematosus patients.

This study aims to evaluate the plasma interleukin (IL)-37 levels in systemic lupus erythematosus (SLE) patients, as well as its association with major clinical and laboratory features. Ninety consecutively selected SLE patients and 78 community-based healthy controls were recruited. Plasma IL-37 levels were detected by enzyme-linked immunosorbent assay (ELISA). The major clinical and laboratory data of SLE patients were also recorded. The results showed that IL-37 level was significantly higher in the plasma of patients with SLE compared with controls (p = 0.028). The correlation of plasma IL-37 levels with major clinical and laboratory data of SLE patients was also analyzed, and the results showed that anti-Sm and anti-RNP were negatively associated with plasma IL-37 levels of SLE patients, while C3 was positively associated with plasma IL-37 levels of SLE patients. No significant associations of IL-37 with other clinical and laboratory parameters were observed (all p > 0.05). In conclusion, elevated plasma IL-37 level and its associations with anti-Sm, anti-RNP and C3 in SLE patients suggest that IL-37 may be implicated in this disease.

Epidemiological characteristics and influential factors of hand, foot and mouth disease (HFMD) reinfection in children in Anhui province.

Hand, foot and mouth disease (HFMD) is an acute contagious condition caused by a spectrum of human enteroviruses. HFMD reinfection is common in the absence of cross-protection from other virus subtypes. This study focused on reinfection in children in Anhui province, China between 2008 and 2013 using surveillance system data. We classified 8960 cases as reinfected, corresponding to a rate of 2·02%. The reinfection rate was higher in boys than in girls [odds ratio (OR) 1·27, 95% confidence interval (CI) 1·21-1·32, P < 0·001], children aged < 3 years (OR 3·82, 95% CI 3·58-4·07, P < 0·001), and children living in rural areas (OR 1·09, 95% CI 1·04-1·14, P = 0·001). The reinfection rate in children who were originally infected with non-enterovirus A71 (non-EVA71) enteroviruses was higher than those infected with EVA71 (OR 1·36, 95% CI 1·02-1·80, P = 0·034). Influential factors of reinfection rate included annual incidence (ß coefficient = 0·715, P = 0·002) and the proportion of EVA71 in patients with mild HFMD (ß coefficient = -0·509, P = 0·018). These results demonstrate that boys aged <3 years, especially those in rural areas or regions with a lower EVA71 proportion are more prone to reinfection, and specific health education programmes should be developed to protect these susceptible populations.

Relationship between the IL-4 gene promoter -590C/T (rs2243250) polymorphism and susceptibility to autoimmune diseases: a meta-analysis.

OBJECTIVE: Studies investigating the association between interleukin (IL)-4 gene promoter -590C/T (rs2243250) polymorphism and autoimmune diseases report conflicting results. To derive a more precise estimation of the relationship, a meta-analysis was performed. METHODS: A systematic literature search was conducted to identify relevant studies. Pooled odds ratio (OR) with 95% confidence interval (CI) was used to estimate the strength of association. RESULTS: A total of 6001 cases and 6788 controls from 24 studies were analysed. Significant association of the C allele of IL-4 rs2243250 polymorphism with rheumatoid arthritis (RA) was detected (odds ratio (OR) = 0.696, 95% confidence interval (CI) = 0.601-0.807). Stratification by ethnicity indicated an association between the IL-4 rs2243250 polymorphism and RA in Caucasians. Furthermore, the overall ORs of the associations between the C allele and multiple scleorosis (MS) were 1.340 (95% CI = 1.102-1.630). However, we failed to reveal any association between IL-4 rs2243250 polymorphism and systemic lupus erythematosus (SLE), type 1 diabetes (T1D) or Graves' disease (GD). CONCLUSIONS: The present study suggests that the IL-4 rs2243250 polymorphism might be associated with genetic susceptibility to autoimmune diseases, including RA and MS.

Clinical and laboratory profiles of 136 systemic sclerosis patients with and without echocardiographically detected pulmonary hypertension.

AIM: This study aims to review the clinical and laboratory profiles of systemic sclerosis (SSc) patients with and without echocardiographically detected pulmonary hypertension (PH) in China. PATIENTS AND METHODS: The study included 136 consecutive patients treated from 1992 to 2012. Diagnosis of SSc was made according to the 1980 revision of the American College of Rheumatology SSc criteria. PH was defined as systolic pulmonary artery pressure ≥ 40 mmHg detected by Doppler echocardiography. The clinical and laboratory parameters of SSc patients with pulmonary hypertension (SSc-PH) were compared to those of SSc patients without pulmonary hypertension (SSc-no PH). RESULTS: Of the 136 SSc patients, 28 (20.6 %) were diagnosed as having PH by echocardiography. Upon comparison with the SSc-no PH patients, SSc-PH patients were observed to have a significantly higher frequency of subjective dyspnea (P = 0.010) and a higher rate of anti-nuclear RNP (anti-nRNP) antibody positivity (P = 0.028). We also observed that the percentage of SSc-PH patients with increased urea nitrogen is significantly higher than that of SSc-no PH patients after correction for multiple testing (P = 0.006, compared to patients with normal values). CONCLUSION: This study demonstrates that SSc patients with PH detected by echocardiography had characteristic clinical and laboratory features. More specific treatment addressing these aspects should be offered to improve the curative effect of therapy in SSc-PH patients.

Lung, liver, prostate, bladder malignancies risk in systemic lupus erythematosus: evidence from a meta-analysis.

OBJECTIVE: The objective of this paper is to examine some solid tumors incidence in patients with systemic lupus erythematosus (SLE) derived from population-based cohort studies by means of meta-analysis. METHODS: Relevant electronic databases were searched for studies characterizing the associated risk of overall malignancy and four site-specific malignancies (lung, liver, prostate, bladder cancer) in patients with SLE. The meta-analysis procedure was used to pool standardized incidence rates (SIRs) with 95% confidence intervals (CIs) to evaluate the association. RESULTS: A total of seven cohort studies were identified, of which six provided the SIR for overall malignancy, seven reported the SIR for lung cancer, five for liver cancer, four for prostate cancer and six for bladder cancer. Overall, lung and liver cancers were more frequently observed in patients with SLE with SIR of 1.16 (95% CI = 1.12-1.21), 1.68 (95% CI = 1.33-2.13) and 2.44 (95% CI = 1.46-4.05), respectively. However, the risk of prostate cancer appeared to be somewhat reduced in male patients with SLE (SIR = 0.71, 95% CI = 0.57-0.89). CONCLUSIONS: This meta-analysis shows that SLE patients are at increased risk of developing cancer, particularly of the lung, bladder and liver. However, males with SLE have a decreased risk of prostate cancer.

Association of the IFNAR1-17470 and IL-10-592 cytokine variants with susceptibility to chronic hepatitis B viral infections in a Chinese population.

An association between the sequence variants of cytokine genes and various clinical outcomes in subjects infected with the hepatitis B virus (HBV) has been demonstrated. However, the results are inconsistent and inconclusive. Further studies in other populations and the evaluation of a greater number of individuals may contribute to a better understanding of the influence of the cytokine genetic variants on the evolution of HBV infections. This study was performed to explore the relationships between the sequence variants of TNF-A-308, IFNAR1-17470, and IL-10-592 and the susceptibility to chronic hepatitis B (CHB) in a Chinese population. A total of 160 patients with CHB and 124 individuals who had spontaneously recovered (SR) from hepatitis B were enrolled in the present study. The variants at TNF-A-308, IFNAR1-17470, and IL-10-592 were determined by PCR-restriction fragment length polymorphism analysis and were confirmed by bidirectional DNA sequencing. Significant differences were found between the CHB and the SR groups in the frequency and distribution of the genotypes of both IFNAR1-17470 and IL-10-592 genes. In comparison with the CHB patients with the IFNAR1-17470 G/G variant, the odds ratio (OR) of the CHB patients with the IFNAR1-17470 C/C variant developing chronic hepatitis was 2.06 (95%CI = 1.03-4.14). In addition, the OR of the patients with CHB having the IL-10-592 C/C variant developing chronic hepatitis was 2.77 (95%CI = 1.13-4.57) when compared with that of the patients with the IL-10-592 A/A variant. In conclusion, sequence variants of both the IFNAR1-17470 and IL-10-592 genes were correlated with susceptibility to CHB.

No evidence for a genetic association of IRF4 with systemic lupus erythematosus in a Chinese population.

Systemic lupus erythematosus (SLE) is a complex autoimmune disease with immunological defects caused by abnormal immune regulation and excessive production of autoantibodies. Interferon regulatory factor 4 (IRF4) as a lymphocyte-restricted member of the IRF family is expressed exclusively in immune system cells and is essential for the development of T helper-2 (Th2) cells, IL17-producing T helper (Th17) cells, and IL9-producing T helper (Th9) cells. Some studies have shown that IRF4 is important in the development of autoimmune diseases. The role of IRF4 in human SLE has not been extensively studied. This article will discuss the relationship between the IRF4 gene polymorphism (single nucleotide polymorphism rs872071) and the susceptibility to SLE in a Chinese Han population. A case-control study was performed with 663 SLE patients and 658 healthy controls. The results showed that IRF4 gene polymorphism (rs872071) was not significantly different between SLE patients and healthy controls [A/G vs. G/G: p = 0.543, odds ratio (OR) = 0.872, 95 % confidence interval (CI) 0.562-1.355; G vs. A: p = 0.512, OR = 1.058, 95 % CI 0.893-1.254; A/A + A/G vs. G/G: p = 0.475, OR = 0.857, 95 % CI 0.562-1.308]. Similarly, in a subgroup analysis of clinical manifestation of lupus nephritis (LN), no significant differences were found between the non-LN group and the LN group (G/G vs. A/G vs. A/A: χ(2) = 0.611, p = 0.631; G vs. A: χ(2) = 0.411, p = 0.521).These findings suggest that the IRF4 gene polymorphism is not associated with SLE in a Chinese Han population; further studies are needed to establish the role of IRF4 in SLE with a larger sample size.

Serum levels of cytokines in systemic lupus erythematosus : Association study in a Chinese population.

BACKGROUND: Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by abnormal production of autoantibodies and proinflammatory cytokines. The clear pathogenesis of SLE has not been fully elucidated. Cytokine-mediated immunity has been showed to be involved in the pathogenesis of SLE. OBJECTIVES: The aim of this study was to investigate serum levels of cytokines (IL-19, IL-24, IL-26, IL-31, IL-32, IL-36) in SLE patients, in comparison with normal controls in a Chinese population. MATERIALS AND METHODS: A total of 65 patients with SLE and 65 healthy volunteers were recruited for the current study. All serum levels of cytokines were measured by enzyme-linked immunosorbent assay (ELISA) kits. RESULTS: Serum levels of IL-19, IL-24, IL-26, IL-31, IL-32 and IL-36 in SLE patients were not significantly different from the normal controls (all p > 0.05). CONCLUSION: Serum levels of IL-19, IL-24, IL-26, IL-31, IL-32 and IL-36 in SLE patients were not markedly different from the normal controls. However, functional research should be discussed in future studies to elucidate the roles of these cytokines in SLE.

A bibliometric study of literature on SLE research in PubMed (2002-2011).

OBJECTIVE: The objective of this paper is to study the distribution regularity, development tendency and research hot spots of systemic lupus erythematosus (SLE) literature published in journals indexed in PubMed over a 10-year period using the bibliometric analysis method. METHODS: Citations from 2002 to 2011 were downloaded from the PubMed database. The core of the search was the Medical Subject Headings (MeSH) "Lupus Erythematosus, Systemic." The period of study was set from 2002 to 2011. RESULTS: A total of 14,053 articles were retrieved. These articles were published in 1627 different journals, nine journals contributing to one-third of all the literature. The first three journals containing the most articles were CONCLUSION: SLE has become a field of interest over the period 2002 to 2011. However, lupus research publications in developing countries have lagged behind.

MicroRNA-101, mitogen-activated protein kinases and mitogen-activated protein kinases phosphatase-1 in systemic lupus erythematosus.

Systemic lupus erythematosus (SLE) is the prototype of human autoimmune disease in which various inflammatory cytokines such as tumor necrosis factor-alpha (TNF-α), interleukin (IL)-1, IL-6 and interferon (IFN) play crucial pathogenic roles. The production of these cytokines is responsible for the mitogen-activated protein kinases (MAPKs), which can also generate mitogen-activated protein kinases phosphatases (MKPs). MKP-1, a prototypical member of the MKP family that can influence outcomes of autoimmune diseases and reduce the inflammatory cytokines by dephosphorylation of p38 and JNK MAPK, plays a critical role in the expression of inflammatory mediators at transcriptional and post-transcriptional levels. MicroRNA-101 (miR) is a small non-coding RNA that regulates the MAPK response by targeting MKP-1 mRNA 3'-UTR, and affects the secretion of the downstream inflammatory cytokines. However, the interaction among the above three in the pathogenesis of SLE has not previously been reported. This review discusses the current understanding of the role of the MAPK/MKP/miR-101 axis in regulating immune responses and the pathogenesis of SLE to provide new ideas for clinical treatment of SLE.

Association of the interleukin-10 gene polymorphism (-1082A/G) with systemic lupus erythematosus: a meta-analysis.

OBJECTIVE: The interleukin-10 (IL-10) gene polymorphism (-1082A/G) has been shown to be associated with systemic lupus erythematosus (SLE), but findings are not consistent across studies. The aim of our meta-analysis was to assess the association between the -1082A/G polymorphism in the IL-10 gene and SLE. METHODS: We searched all publications on the association between the IL-10 (-1082A/G) polymorphism and SLE in PubMed, Elsevier Science Direct, Chinese Biomedical Literature Database (CBM), Chinese National Knowledge Infrastructure (CNKI) and Wanfang (Chinese). Meta-analysis was conducted using software Stata version 10.1. Meta-odds ratios (ORs) and 95% confidence intervals (CIs) based on fixed-/random-effects models depended on Cochran's Q-statistic and I(2) values. RESULTS: A total of 17 studies with 2396 cases and 3653 controls were included in this meta-analysis. Meta-analysis was performed for genotypes GG versus AA, GG + AG versus AA, GG versus AG + AA, and G allele versus A allele. Significant differences were found in genotype distribution between SLE and normal controls in whole-population GG versus AA (OR = 1.428, 95% CI = 1.006-2.208). Similar results were detected in the dominant genetics effect of the G allele (OR = 1.202, 95% CI = 1.030-1.403). No significant association was found in allele distribution in whole-population G versus A (OR = 1.125, 95% CI = 0.998-1.269). In subgroup analysis by ethnicity, significant association was found when GG + AG versus AA was performed in a European population (OR = 1.240, 95% CI = 1.022-1.503) and GG versus AG + AA was performed in an Asian population (OR = 3.596, 95% CI = 1.389-9.311). Significant association was found between genotype distribution in Asians (OR = 4.491, 95% CI = 1.552-13.000). Publication year was detected as the source of heterogeneity. In the stratified analysis by publication year, the pooled OR was 1.049 (95% CI = 0.940-1.171; P (heterogeneity) = 0.431; I(2) ( )= 0.4%) in subgroup 1 (publication years 1999-2004). No significant association was found between the IL-10 (-1082 G) allele and SLE in subgroup 1 (Z = 0.85, p = 0.431). In subgroup 2 (publication years 2005-2011), the pooled OR was 1.327 (95% CI = 1.125-1.565; P (heterogeneity) = 0.143; I(2) ( )= 35.8%). Significant association was found between the IL-10 (-1082 G) allele and SLE (Z = 3.36, p = 0.001). CONCLUSIONS: This meta-analysis demonstrates the association between the IL-10 (-1082A/G) polymorphism and SLE. However, further studies are needed for a definitive conclusion.

Sex-specific differences in the relationship between the single-nucleotide polymorphism rs2298804 of FCER1A and the susceptibility to systemic lupus erythematosus in a Chinese Han population.

BACKGROUND: IgE plays a important role in systemic lupus erythematosus (SLE). A recent study identified the high-affinity IgE receptor α-chain (FcεRIα) gene FCER1A as a susceptibility locus influencing total serum IgE levels. AIM: To investigate whether the single-nucleotide polymorphism (SNP) rs2298804 (251 A>G) of FCER1A is associated with SLE and its clinical characteristics in a Chinese Han population. METHODS: This case-control study enrolled 948 patients with SLE and 976 healthy controls. Precise phenotyping of patients was accomplished by means of a questionnaire and clinical examination. rs2298804 was genotyped using real-time fluorescence quantitative PCR. RESULTS: Compared with the healthy controls, patients with SLE had much lower frequencies of the AG genotype (OR = 0.26; 95% CI 0.194-0.374; P << 0.001) and G allele (OR = 0.45; 95% CI 0.36-0.55; P << 0.001). We also found a stronger association of the FCER1A exon SNP, rs2298804 (A/G), in females (OR = 0.42; 95%CI 0.34-0.53; P << 0.001) compared with males (OR = 0.52; 95% CI 0.28-0.97; P < 0.04). G-allele carriers are less likely to develop SLE than A-allele carriers. Although we did not find any significant correlation between the rs2298804 and the incidence of lupus nephritis, rs2298804 seemed to protect against proteinunia, fever and hypocomplementaemia in patients with SLE, but appeared to be a risk factor for photosensitivity and vasculitis. CONCLUSIONS: We found that rs2298804 seemed to have a protective effect against SLE in Chinese patients, especially women. It also protected against proteinunia, fever and hypocomplementaemia, but was a risk factor for photosensitivity and vasculitis.

Lack of association between the haplotype GCC/ATA polymorphism in the IL-10 promoter and SLE risk: evidence from a meta-analysis.

Numerous studies have investigated the association between the interleukin (IL)-10 promoter haplotype GCC/ATA (at the - 1082, - 819 and - 592 positions of the IL-10 gene) polymorphism and systemic lupus erythematosus (SLE) risk, but the results were inconsistent. We performed the current meta-analysis to assess precisely the association by comparing the GCC haplotype with the ATA haplotype. A literature search was conducted using Pubmed and Web of Science databases. Twelve studies including 1765 cases and 2444 controls were included in this meta-analysis. The overall odds ratios (total and stratified by ethnicity: Asian or Caucasian) were 1.042 (95 % confidence interval [CI] 0.893-1.216; p = 0.599), 0.790 (95 % CI 0.528-1.182; p = 0.251), and 1.093 (95 % CI 0.919-1.300; p = 0.317), respectively. The results indicated that the GCC haplotype revealed no statistically significant association with SLE risk; thus, the haplotype GCC/ATA polymorphism of the IL-10 promoter is not likely to be involved in SLE susceptibility.

Source apportionment and ozone formation mechanism of VOCs considering photochemical loss in Guangzhou, China.

Understanding the sources and impact of volatile organic compounds (VOCs) on ozone formation is challenging when the traditional method does not account for their photochemical loss. In this study, online monitoring of 56 VOCs was carried out in summer and autumn during high ozone pollution episodes. The photochemical age method was used to evaluate the atmospheric chemical loss of VOCs and to analyze the effects on characteristics, sources, and ozone formation of VOC components. The initial concentrations during daytime were 5.12 ppbv and 4.49 ppbv higher than the observed concentrations in the summer and autumn, respectively. The positive matrix factorization (PMF) model identified 5 major emission sources. However, the omission of the chemical loss of VOCs led to underestimating the contributions of sources associated with highly reactive VOC components, such as those produced by biogenic emissions and solvent usage. Conversely it resulted in overestimating the contributions from VOC components with lower chemical activity such as liquefied petroleum gas (LPG) usage, vehicle emissions, and gasoline evaporation. Furthermore, the estimation of ozone formation may be underestimated when the atmospheric photochemical loss is not taken into account. The ozone formation potential (OFP) method and propylene-equivalent concentration method both underestimated ozone formation by 53.24 ppbv and 47.25 ppbc, respectively, in the summer, and by 40.34 ppbv and 26.37 ppbc, respectively, in the autumn. The determination of the ozone formation regime based on VOC chemical loss was more acceptable. In the summer, the ozone formation regime changed from the VOC-limited regime to the VOC-NOx transition regime, while in the autumn, the ozone formation regime changed from the strong VOC-limited regime to the weak VOC-limited regime. To obtain more thorough and precise conclusions, further monitoring and analysis studies will be conducted in the near future on a wider variety of VOC species such as oxygenated VOCs (OVOCs).

Association of CD247 with systemic lupus erythematosus in Asian populations.

OBJECTIVE: Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. CD247 (CD3Z, TCRZ) plays a vital role in antigen recognition and signal transduction in antigen-specific immune responses, and is known to be involved in SLE pathogenesis. Weak disease association was reported for genetic variants in this gene in Caucasian studies for SLE, Crohn's disease and systemic sclerosis, but its role as a genetic risk factor was never firmly established. METHODS: In this study, using a collection of 612 SLE patients and 2193 controls of Chinese ethnicity living in Hong Kong in a genome-wide study, single nucleotide polymorphisms (SNPs) in and around CD247 were identified as being associated with SLE. The two most significant SNPs in this locus were selected for further replication using TaqMan genotyping assay in 3339 Asian patients from Hong Kong, Mainland China, and Thailand, as well as 4737 ethnically and geographically matched controls. RESULTS: The association of CD247 with SLE in Asian populations was confirmed (rs704853: odds ratio [OR] = 0. 81, p = 2.47 × 10(-7); rs858543: OR = 1.10, p = 0.0048). Patient-only analysis suggested that rs704853 is also linked to oral ulcers, hematologic disorders and anti-double-stranded DNA (dsDNA) antibody production. CONCLUSION: A significant association between variants in CD247 and SLE was demonstrated in Asian populations. Understanding the involvement of CD247 in SLE may shed new light on disease mechanisms and development of new treatment paradigms.

The FCGR2B rs10917661 polymorphism may confer susceptibility to ankylosing spondylitis in Han Chinese: a case-control study.

OBJECTIVE: Single-nucleotide polymorphisms (SNPs) in the Fc gamma receptor IIB (FCGR2B) gene have recently been found to be associated with several human autoimmune diseases. We undertook the current study to investigate the influence of these polymorphisms on the risk of ankylosing spondylitis (AS). METHOD: A total of 306 patients with AS from Anhui, China, fulfilling the modified New York Criteria, and 300 matched healthy controls were analysed. All subjects were genotyped for two SNPs (rs1050501, rs10917661) in the FCGR2B gene, and the SNaPshot Assay was used for genotyping. RESULTS: SNP rs10917661 was significantly associated with AS [C vs. T: odds ratio (OR) 1.723, 95% confidence interval (CI) 1.086-2.733, p = 0.020; genotype: p = 0.026] whereas no association was found for rs1050501. Furthermore, no haplotype was found to be associated with AS. CONCLUSION: These findings indicated that rs10917661 may be a novel SNP involved in AS genetic predisposition in the Han Chinese population.

Lack of association between CTLA-4 +49A/G and -318C/T polymorphisms and Behçet's disease risk: a meta-analysis.

OBJECTIVES: To more precisely determine whether there is a significant association of cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) gene polymorphisms with the susceptibility for Behçet's disease. METHODS: Eight studies that included data from 7 articles were identified using PubMed, Embase, Chinese Biomedical Literature Database (CBM), and Chinese National Knowledge Infrastructure (CNKI) published before March 2012. Meta-analysis was performed for two CTLA-4 gene polymorphisms, +49A/G (rs231775) and -318C/T (rs5742909). Statistical analyses were performed using software Review Manager (version 5.1) and Stata (version 11.0). The pooled odds ratio (OR) with 95% confidence interval (95%CI) were presented. RESULTS: Overall, no significant association was detected in all genetic models when all studies were pooled into the meta-analysis (for +49A/G polymorphism: A vs. G, OR=1.173, 95% CI=0.790-1.743; A/A vs. A/G+G/G, OR=1.422, 95% CI=0.718-2.814; A/A+A/G vs. G/G, OR=1.421, 95% CI=0.729-2.767; and for -318C/T polymorphism: C vs. T, OR=1.051, 95% CI=0.844-1.307; C/C vs. T/T+C/T, OR=1.154 95% CI=0.891-1.495, C/C+C/T vs. T/T, OR=1.044, 95% CI=0.301-3.617). Furthermore, in the subgroup analysis by ethnicity, there was also lack of evidence for the association in Turkish patients. CONCLUSIONS: Our study failed to provide evidence for the genetic association between CTLA-4 +49A/G and -318C/T polymorphisms with Behçet's disease based on currently available evidence from literature. Further confirmations in large and well-designed studies including other CTLA-4 gene polymorphisms are needed.

Lack of association of interleukin-18 gene promoter -607 A/C polymorphism with susceptibility to autoimmune diseases: a meta-analysis.

OBJECTIVE: Published data on the association between interleukin (IL)-18 gene promoter -607 A/C polymorphism and autoimmune diseases risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. METHODS: A total of 17 studies, including six studies on type 1 diabetes (T1D), four on rheumatoid arthritis (RA), five on systemic lupus erythematosus (SLE), three on Crohn's Disease (CD) and three on ulcerative colitis (UC), were available for the meta-analysis. Meta-analysis was performed for genotypes A/A (recessive effect), genotypes A/A + A/C (dominant effect), and A allele in fixed or random-effects models. RESULTS: Overall, no significantly elevated autoimmune diseases risk was found in all genetic models when all studies were pooled into the meta-analysis. The overall odds ratios (ORs) and 95% confidence intervals (CIs) for A-allele were T1D (OR = 0.938, 95% CI = 0.757-1.162), RA (OR = 0.759, 95% CI = 0.540-1.067), SLE (OR = 0.858, 95% CI = 0.609-1.208), CD (OR = 1.159, 95% CI = 0.975-1.379) and UC (OR = 1.170, 95% CI = 0.977-1.402), respectively. In the subgroup analysis by ethnicity, there was still no significant association detected in all genetic models. CONCLUSIONS: To date, there is still not enough evidence to indicate the association of IL-18 gene promoter -607 A/C polymorphism and the development of autoimmune diseases.