Causal associations between modifiable risk factors and isolated REM sleep behavior disorder: a mendelian randomization study.

Objectives: This Mendelian randomization (MR) study identified modifiable risk factors for isolated rapid eye movement sleep behavior disorder (iRBD). Methods: Genome-wide association study (GWAS) datasets for 29 modifiable risk factors for iRBD in discovery and replication stages were used. GWAS data for iRBD cases were obtained from the International RBD Study Group. The inverse variance weighted (IVW) method was primarily employed to explore causality, with supplementary analyses used to verify the robustness of IVW findings. Co-localization analysis further substantiated causal associations identified via MR. Genetic correlations between mental illness and iRBD were identified using trait covariance, linkage disequilibrium score regression, and co-localization analyses. Results: Our study revealed causal associations between sun exposure-related factors and iRBD. Utilizing sun protection (odds ratio [OR] = 0.31 [0.14, 0.69], p = 0.004), ease of sunburn (OR = 0.70 [0.57, 0.87], p = 0.001), childhood sunburn occasions (OR = 0.58 [0.39, 0.87], p = 0.008), and phototoxic dermatitis (OR = 0.78 [0.66, 0.92], p = 0.003) decreased iRBD risk. Conversely, a deep skin color increased risk (OR = 1.42 [1.04, 1.93], p = 0.026). Smoking, alcohol consumption, low education levels, and mental illness were not risk factors for iRBD. Anxiety disorders and iRBD were genetically correlated. Conclusion: Our study does not corroborate previous findings that identified smoking, alcohol use, low education, and mental illness as risk factors for iRBD. Moreover, we found that excessive sun exposure elevates iRBD risk. These findings offer new insights for screening high-risk populations and devising preventive measures.

Exposure to polycyclic aromatic hydrocarbons increases the risk of poor sleep pattern in US adults: results from the NHANES (2005-2010).

Recently, polycyclic aromatic hydrocarbons (PAHs) were found to be linked to various diseases. The current study's objective was to explore whether or not there was a relation between PAH exposure and poor sleep pattern. We evaluated nine urine PAH metabolites as exposures in our cross-sectional research based on the National Health and Nutrition Examination Survey (NHANES) from 2005 to 2010. Logistic regression, restricted cubic spline regression (RCS) model, weighted quantile sum (WQS) regression, subgroup analysis, and mediation analysis were used to assess the associations between PAH metabolism and poor sleep pattern risk. After controlling for all confounding variables, several primary PAH metabolites, namely 1-hydroxynapthalene (1-NAP, OR 1.32, 95% CI 1.04-1.68), 2-hydroxyfluorene (2-FLU, OR 1.34, 95% CI 1.05-1.71), 1-hydroxyphenanthrene (1-PHE, OR 1.30, 95% CI 1.03-1.64), 9-hydroxyfluorene (9-FLU, OR 1.38, 95% CI 1.09-1.74), and ∑PAHs (OR 1.33, 95% CI 1.05-1.69), compared to the bottom tertile, were associated with increased risk of poor sleep pattern. The WQS regression analysis showed that 9-FLU and 1-NAP comprised the two most important factors related to poor sleep pattern. Mediation analysis revealed that inflammation acted as a mediator between PAHs and the prevalence of poor sleep pattern. In conclusion, exposure to PAHs may be associated with poor sleep pattern. Inflammation is a mediator of the effects of PAH exposure on poor sleep pattern.

Plasma Soluble Podoplanin as a Biomarker of Hypercoagulability and Cellular Immunity Status in Patients With Non-small Cell Lung Cancer.

Podoplanin (PDPN) is known to play a role in thrombosis, metastasis of tumor cells, the epithelial-mesenchymal transition (EMT), and immune response. The present study aim to evaluate the clinical significance of soluble PDPN (sPDPN) in hypercoagulability and cellular immune status in patients with non-small cell lung cancer (NSCLC). Enzyme-linked immunosorbent assay (ELISA) was used to determine plasma sPDPN levels, and T-lymphocyte distribution was determined using flow cytometry. The levels of sPDPN were markedly higher in the NSCLC group than control group, and sPDPN was higher in patients with advanced-stage and with distant metastases. The high-sPDPN group had lower absolute numbers of CD3+, CD4+, and CD4+/CD8+ ratio than low-sPDPN group. Correlation analysis indicated that sPDPN was positively linked to platelet (r = 0.50, P < .001), D-dimer (r = 0.52, P < .001), and fibrinogen (r = 0.37, P < .001); and inversely correlated with CD3+ (r = -0.37, P < .001), CD4+ (r = -0.44, P < .001), and CD4+/CD8+ (r = -0.37, P < .001). Multivariate logistic regression analysis indicated that sPDPN (odds ratio [OR] = 2.293; 95% CI, 1.559-3.373) and tumor stage (OR = 15.857; 95% CI, 1.484-169.401) were separate risk indicators for hypercoagulability. The receiver operating characteristic curves (ROC) indicated that sPDPN had high diagnostic values for hypercoagulability in NSCLC patients. In conclusion, plasma sPDPN was not only linked to hypercoagulability, but it may also be an indicator of the body's cellular immune status in NSCLC patients.

Modulatory apoptotic effects of sinomenine on Mycoplasma pneumonia through the attenuation of inflammation via ERK/JNK/NF-κB signaling pathway.

Mycoplasma pneumoniae (MPP) induced pneumonia is a common disease of children. Sinomenine (SIN) is an isoquinoline mainly sequestered from Sinomenium acutum. It is a promising drug for treating arthritis, lung, colon, liver and gastric cancer. Hence, the present study investigated the role and mechanism of SIN treatment in MPP induced pneumonia in experimental in-vivo mice model. The BALB/c male mice were separated into four groups (n = 6 mice/group): normal, MPP, MPP + SIN (20 mg/kg bw), and SIN (20 mg/kg bw) alone. Results were expressed as mean ± SD. Data were analyzed using one way Analysis of Variance (ANOVA) with the Dunnett's post hoc test using SPSS v 18.0. P value < 0.05 was considered significant. The total protein, cell count, inflammatory cytokines, MP-IgM, Monocyte chemo attractant protein-1 (MCP-1), and MP-DNA were measured. The protein expressions of Bax/Bcl-2, ERK, JNK, NF-κB were analyzed and histopathology of lungs was examined. SIN treatment significantly (p < 0.05) reduced the total proteins, cell counts in BALF, inflammatory cytokines, MP-IgM, MCP-1, MP-DNA and reversed the histological alterations. SIN attenuated the apoptotic pathway through the modulation of Bax/Bcl-2 expression. SIN alleviated pulmonary inflammatory mediators and apoptosis in MPP-infected mice via suppression of ERK/JNK/NF-κB signaling. SIN administration diminished inflammation and lung fibrosis by inhibiting apoptosis in MPP mice. Hence, SIN is a potential natural protective remedy for MPP.

Study Effect of Azithromycin and Doxycycline in Mucus Producing and Inflammatory Signaling Pathways of Allergic Asthma.

Asthma is a respiratory disease; involving millions of people worldwide. The main cause of asthma is allergy and immune response dysregulation. The effects of azithromycin and doxycycline as asthma-controlling drugs were evaluated in this study. Mice asthma model was produced and asthmatic mice were treated with azithromycin (75 mg/kg, orally) and doxycycline (20 mg/kg, orally). Eosinophils and neutrophils count, interleukin (IL)-4, IL-5, IL-12, IL-13, and total immunoglobulin E (IgE) levels were measured. Histological study and evaluating the genes expression of Muc5ac, Muc5b, IL-33, COX2, MYD88, and TRAF6 were performed. Azithromycin and doxycycline did not affect eosinophil and neutrophil percentage, IL-4, IL-5, IL-12, and total IgE levels, peribronchial and perivascular inflammation, goblet cell hyperplasia, and gene expression of MYD88, TRAF6, and COX2. Treatment with azithromycin significantly decreased IL-13 level, mucus secretion, and gene expression of IL-33, Muc5ac, and Muc5b; compared to the non-treated asthma group. Azithromycin administration controls mucus secretion and inflammation. Azithromycin therapy and not doxycycline might be an effective adjuvant option in asthma with reducing mucus in the airway.

D-dimer: The Risk Factor and Predictive Indicator of Necrotizing Pneumonia in Children.

BACKGROUND: Necrotizing pneumonia (NP) is a severe complication of community-acquired pneumonia in children. This article assesses the risk factors and the diagnostic value of D-dimer for NP in children. METHODS: The selected patients with lobar pneumonia were divided into two groups, namely: the NP group and the pneumonia only group. This article conducted a comparative study in the differences between the two groups. The authors identified the independent factors of NP with the assistance of multivariate logistic regression analysis upon the completion of the univariate analysis. The authors applied the receiver operating characteristic (ROC) curve for the purpose of discovering the indicators with the most predictive abilities of NP. RESULTS: Three risk factors were observed to be independently associated with the development of NP: Total duration of fever (OR 1.406, 95% CI 1.264 - 1.834), WBC counts (OR 2.662, 95% CI 1.592 - 3.981), and D-dimer (OR 2.878, 95% CI 1.671 - 4.902). D-dimer levels present with higher accuracy in terms of predicting the development of NP than the other two, with a value that is under the ROC of 0.886 (95% CI, 0.815 - 0.958). CONCLUSIONS: Significantly higher D-dimer levels are observed in children with NP. D-dimer could be considered as one of the most important risk factors and predictive indicators of NP.

LncRNA TUG1 Contributes to Hypoxia-Induced Myocardial Cell Injury Through Downregulating miR-29a-3p in AC16 Cells.

Myocardial ischemia is a common reason that causes human death globally. Long noncoding RNA taurine upregulated 1 (TUG1) serves as an oncogene in a variety of cancers. In this article, we aimed to investigate the role of TUG1 and its underlying signal pathway in hypoxia-induced myocardial cell injury. Cell viability, apoptosis, and lactate dehydrogenase (LDH) release were detected by 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide, flow cytometry, western blot assay, and LDH cytotoxicity assay. Quantitative real-time polymerase chain reaction was applied to measure the enrichment of TUG1 and miR-29a-3p. MiR-29a-3p was predicted as a target of TUG1 by StarBase bioinformatic software, and the target relationship between TUG1 and miR-29a-3p was verified by dual-luciferase reporter assay. Hypoxia treatment induced the apoptosis and LDH release while inhibited the viability of AC16 cells. TUG1 was markedly upregulated while the level of miR-29a-3p was notably decreased in hypoxia-stimulated AC16 cells. TUG1 contributed to hypoxia-induced AC16 injury. MiR-29a-3p depletion intensified hypoxia-induced AC16 damage. TUG1 negatively regulated the expression of miR-29a-3p through their direct interaction in AC16 cells. TUG1 silencing-mediated influences in hypoxia-induced AC16 cells were partly reversed by the interference of miR-29a-3p. In conclusion, TUG1 accelerated hypoxia-induced AC16 injury through inversely modulating the level of miR-29a-3p. TUG1/miR-29a-3p axis might be an underlying therapeutic target for myocardial ischemia.

Prevalence of non-syndromic orofacial clefts: based on 15,094,978 Chinese perinatal infants.

Non-syndromic orofacial clefts (NSOFC), which include cleft lip and palate (CLP), cleft lip only (CLO), and cleft palate only (CPO), contains a range of disorders affecting the lips and oral cavity. No systematic review and meta-analysis has been carried out to synthesize the prevalence of NSOFC in Chinese perinatal infants. We aimed to quantify and understand the variation of prevalence national and regional levels. Four English databases and four Chinese databases were searched using a comprehensive search strategy from inception to April 2017. The random effect model was used for this meta-analysis. To determine the sources of heterogeneity, subgroup analyses and meta-regression were conducted based on different categories. The protocol has been pre-registered in the PROSPERO, number CRD42017062293. 110 studies, including 15,094,978 Chinese perinatal infants, were eligible for inclusion. The pooled prevalence rate for NSOFC was 1.67‰ (95% CI 1.53-1.82), varying with provinces. The pooled prevalence estimate was 0.56‰ (0.50-0.63) for CLO, 0.82‰ (0.73-0.90) for CLP, and 0.27‰ (0.24-0.30) for CPO. Significant associations were found between overall prevalence estimates and survey year and study region. The prevalence of NSOFC was severe in Chinese perinatal infants, varying with provinces. The results will serve as a baseline for future assessment of the overall effectiveness of NSOFC control, and will also support and inform health policy for planning and helping health debates.

Pathogenic variants screening in seventeen candidate genes on 2p15 for association with ankylosing spondylitis in a Han Chinese population.

OBJECTIVES: Previous studies have found the association between rs10865331 in 2p15 area and ankylosing spondylitis (AS). This study aimed to identify additional functional genetic variants in 2p15 region associated with AS susceptibility. METHODS: We used next generation sequencing (NGS) in 100 AS cases and 100 healthy controls to screen AS susceptible genetic variants, and validated these variants in 620 cases and 620 controls by using imLDRTM technique for single nucleotide polymorphism (SNP) genotyping. RESULTS: Totally, we identified 12 SNPs that might confer susceptibility to AS. Of those SNPs, three (rs14170, rs2123111 and rs1729674) were nominally associated (P<0.05) with AS, but were no longer statistically significant after Bonferroni correction. After stratified by gender, another two SNPs (rs11428092 and rs10208769 in USP34) were associated with AS in males but not females, though this was not statistically significant after Bonferroni correction. In addition, rs1729674, rs14170, rs2123111 and rs10208769 were in strong linkage disequilibrium (LD) and were further enrolled in haplotype analysis. A novel haplotype TAGA was found to be associated with a decreased risk of AS (odds ratio (OR) (95% confidence interval (CI)) = 0.832 (0.705-0.982)). Beyond that, we also demonstrated a strong relationship between rs10865331 and AS susceptibility (OR (95% CI) = 1.303(1.111-1.526)). CONCLUSIONS: rs14170 and rs2123111 inUSP34 and rs1729674 in C2orf74 may be associated with AS susceptibility in Han Chinese population. USP34 and C2orf74 in 2p15 region may be AS novel susceptibility genes.

ATF3 inhibits the inflammation induced by Mycoplasma pneumonia in vitro and in vivo.

OBJECTIVES: Activating transcription factor-3 (ATF3) is a key regulator of inflammatory responses. We aimed to investigate the effects and mechanisms of ATF3 on the inflammatory cytokines are induced by Mycoplasma pneumonia (MP). STUDY DESIGN: RAW264.7 and mouse peritoneal macrophages were exposed to various time with or without MP infection (3, 6, 12, 24, and 48 h), and detect the expression of ATF3. Adenovirus-expression of ATF3 (Ad/ATF3) or Ad/ßgal was transfected into cells which were exposed to MP for 48 h, RT-PCR and ELISA was used to evaluate the expression and secretion of TNF-α, IL-1ß, IL-6, and IL-18. In addition, intravenous administration Ad/ATF3 or Ad/ßgal into the mice, the secretion of inflammatory cytokines were detected using ELISA. ChIP assay was used to determine whether ATF3 can bind to the promoter of Early growth response protein 1 (Egr-1). Western blot was used to detect the expression of Egr-1 and Fyn. RESULTS: ATF3 was increased at 3, 6, 12, and 24 h and the highest expression levels occurs in 6 h, there is no significant differences at 24 and 48 h compared with 0 h or CON group in RAW 264.7. Similar results were seen in mouse peritoneal macrophages. Overexpression of ATF3 resulted in the reduction of inflammatory cytokines. ChIP assay revealed that ATF3 can bind to the promoter of Egr-1. Overexpression of ATF3 inhibited the protein expression of Egr-1 and Fyn; conversely, ATF3-deficiency promoted the expression of Egr-1 and Fyn. Overexpression of Egr-1 reduced the anti-inflammatory action of ATF3. CONCLUSIONS: ATF3 inhibit the expression and release of TNF-α, IL-1ß, IL-6, and IL-18 induced by MP in vitro and in vivo, which is associated with its negative regulation of Egr-1/Fyn signaling pathway.

[Effect of heat shock factor 1 on airway hyperresponsiveness and airway inflammation in mice with allergic asthma].

OBJECTIVE: To investigate the effect of heat shock factor 1 (HSF1) on airway hyperresponsiveness and airway inflammation in mice with asthma and possible mechanisms. METHODS: A total of 36 mice were randomly divided into four groups: control, asthma, HSF1 small interfering RNA negative control (siHSF1-NC), and siHSF1 intervention (n=9 each). Ovalbumin (OVA) sensitization and challenge were performed to induce asthma in the latter three groups. The mice in the siHSF1-NC and siHSF1 groups were treated with siHSF1-NC and siHSF1, respectively. A spirometer was used to measure airway responsiveness at 24 hours after the last challenge. The direct count method was used to calculate the number of eosinophils. ELISA was used to measure the serum level of OVA-specific IgE and levels of interleukin-4 (IL-4), interleukin-5 (IL-5), interleukin-13 (IL-13), and interferon-γ (IFN-γ) in lung tissues and bronchoalveolar lavage fluid (BALF). Quantitative real-time PCR was used to measure the mRNA expression of HSF1 in asthmatic mice. Western blot was used to measure the protein expression of HSF1, high-mobility group box 1 (HMGB1), and phosphorylated c-Jun N-terminal kinase (p-JNK). RESULTS: The asthma group had significant increases in the mRNA and protein expression of HSF1 compared with the control group (P<0.05). The siHSF1 group had significantly reduced mRNA and protein expression of HSF1 compared with the siHSF1-NC group (P<0.05). The knockdown of HSF1 increased airway wall thickness, airway hyperresponsiveness, OVA-specific IgE content, and the number of eosinophils (P<0.05). Compared with the siHSF1-NC group, the siHSF1 group had significantly increased levels of IL-4, IL-5, and IL-13 and significantly reduced expression of IFN-γ in lung tissues and BALF (P<0.05), as well as significantly increased expression of HMGB1 and p-JNK (P<0.05). CONCLUSIONS: Knockdown of HSF1 aggravates airway hyperresponsiveness and airway inflammation in asthmatic mice, and its possible mechanism may involve the negative regulation of HMGB1 and JNK.

Prevalence of placenta previa among deliveries in Mainland China: A PRISMA-compliant systematic review and meta-analysis.

BACKGROUND: Placenta previa is characterized by the abnormal placenta overlying the endocervical os, and it is known as one of the most feared adverse maternal and fetal-neonatal complications in obstetrics. OBJECTIVES: We aimed to obtain overall and regional estimates of placenta previa prevalence among deliveries in Mainland China. METHODS: The research was performed a systematic review, following the Meta-analysis of observational studies in epidemiology (MOOSE) guidelines for systematic reviews of observational studies, and the preferred reporting items for systematic reviews and meta-analysis (PRISMA) statement for reporting systematic reviews and meta-analysis. Electronic databases were searched and included hospital-based studies that reported placenta previa prevalence in Mainland China. Random-effects meta-analyses were used to pool prevalence estimates of placenta previa. Meta-regression analyses were performed to explore sources of heterogeneity across the included studies. For exploring the geographical distributions of placenta previa, the ArcGIS software (Esri) was used to construct the map of prevalence. RESULTS: A total of 80 articles and 86 datasets (including 1,298,548 subjects and 14,199 placenta previa cases) from 1965 through 2015 were included. The pooled overall prevalence of placenta previa among deliveries was 1.24% (95% confidence interval [CI], 1.12-1.36) in Mainland China during 1965 to 2015. And, the trend in the prevalence of placenta previa was steady. The occurrence rate of placenta previa in the region groups Northeast, North, Northwest, Central China, East, South, and Southwest was 1.20%, 1.01%, 1.10%, 1.15%, 0.93%, 1.42%, and 2.01%, respectively. The prevalence map based on a geographic information system showed an unequal geographic distribution. CONCLUSIONS: The results showed that placenta previa is currently a high-burden disease in Mainland China. This review would be useful for the design of placenta previa planning and implementation adequate health care systems and treatment programs in Mainland China.

Analysis on the situation of subjective well-being and its influencing factors in patients with ankylosing spondylitis.

BACKGROUND: To examine the subjective well-being (SWB) in patients with ankylosing spondylitis (AS) compared with the healthy controls, and to explore the associations between SWB and demographic characteristics, disease-specific variables in AS patients. METHODS: SWB was assessed with General Well-Being Schedule (GWBS) in 200 AS patients and 210 healthy controls. Comparisons among subgroups were performed to investigate how certain aspects operate as favorable or adverse factors in influencing SWB in the patients with AS. RESULTS: Both men and women with AS reported significantly impaired SWB on all scales of the GWBS except for the Control (O) scale. The results revealed that better sleep, lower disease activity and more family care predicted higher SWB. In AS patients, positive attitude towards therapy prospect was significantly associated with higher SWB. Therapy prospect refers to the hope of patients about the disease treatment. CONCLUSIONS: Compared with general population, SWB might be affected by the onset of AS. There are significant associations between SWB and sleep quality, BASDAI, APGAR, therapy prospect.

Association between SLC2A9 (GLUT9) gene polymorphisms and gout susceptibility: an updated meta-analysis.

The relationship between the SLC2A9 (solute carrier family 2, member 9) gene polymorphisms and gout was still inconsistent among the individual genetic association studies. Therefore, this present research was aimed to systematically evaluate the association between SLC2A9 gene polymorphisms and gout susceptibility. Relevant studies were enrolled by searching databases systematically. The pooled odds ratios (ORs) with 95 % confidence intervals (CIs) were used to assess the associations. The heterogeneity between each of the studies was calculated by using the Q statistic methods, and Begg's funnel plot and Egger's tests were performed to evaluate publication bias. A total of 13 studies investigated four single nucleotide polymorphisms (SNPs) in SLC2A9 were included. In this study, we found that the allele C of rs3733591 was higher in patients than in controls in both all-pooled population [C vs. T: OR (95 % CI) = 1.432 (1.213-1.691)] and Asians-pooled population [C vs. T: OR (95 % CI) = 1.583 (1.365-1.835)]. The allele frequency C of s6449213 was lower in the gout patients than in controls in both all-pooled population and Caucasians-pooled population. Additionally, the allele frequency T of rs16890979 and the allele frequency C of rs1014290 were lower in gout patients than in controls. This study demonstrated that the genetic susceptibility for gout is associated with the SLC2A9 gene polymorphisms. Four of them except for the rs3733591 are protective SNPs in Caucasians, and rs16890979 and rs1014290 are protective SNPs in both Caucasians and Asians, while rs3733591 may be susceptibility SNP in Asians.

The health-related quality of life of ankylosing spondylitis patients assessed by SF-36: a systematic review and meta-analysis.

PURPOSE: The main purpose of this meta-analysis was to evaluate the impact of ankylosing spondylitis on the health-related quality of life assessed by the Medical Outcomes Short-Form-36 questionnaire (SF-36). METHODS: A systematic literature search was performed on PubMed and Web of Science until January 22, 2016 to obtain eligible studies. Random effect model was performed to summarize the scores of each domain. The radar chart was used to compare the scores of AS patients with other health conditions. Spearman's correlation analysis and meta-regression were used to explore the related factors. STATA (version 11.0) and SPSS (version 13.0) were adopted in this meta-analysis. RESULTS: Thirty-eight studies were included in this study, which were all reliable to summarize the scores of the SF-36. Pooled mean scores of the physical health domains ranged from 45.93 to 58.17, with the RP and PF domains being the lowest and the highest, respectively. Pooled mean scores of the mental health domains ranged from 47.49 to 62.52, with the VT and SF domains being the lowest and the highest, respectively. Besides, the physical component summary was lower than the mental component summary. BASDAI and BASFI were negatively associated with some domains of the SF-36 significantly. Patients with AS had a substantial impaired HRQoL in comparison with the general population. CONCLUSIONS: AS could adversely affect the HRQoL of patients. Measuring HRQoL should be considered as an essential part of the overall assessment of health status of AS patients, which would provide valuable clues for improving the management of disease and making decisions regarding treatment.

The -141C Ins/Del and Taq1A polymorphism in the dopamine D2 receptor gene may confer susceptibility to schizophrenia in Asian populations.

It has been reported that two single nucleotide polymorphisms (SNP) Taq1A and -141C Ins/Del in the DRD2 gene may be associated with susceptibility to schizophrenia. Due to inconclusive and mixed results, a meta-analysis was conducted to further clarify the relationship between the two SNP and schizophrenia susceptibility. A systematic literature search for the association of these two SNP with schizophrenia susceptibility was conducted using PubMed, ScienceDirect, Chinese Biomedical Literature Database, and Chinese National Knowledge Infrastructure. Odds ratios (OR) with 95% confidence intervals (CI) were used to assess the strength of the associations reported. A total of 5558 schizophrenic patients and 6792 healthy controls from 31 articles were included in this study. Evidence regarding the association between -141C Ins/Del polymorphism and schizophrenia was found in the allele frequency comparison (Ins versus Del: OR 1.29, 95% CI 1.06-1.57; p=0.01, Praw=0.1, PFalse Discovery Rate=0.023). In ethnic subgroup analysis, the result revealed that the 141C Ins/Del polymorphism was associated with schizophrenia in all genetic models in Asians, but not in Caucasians. For Taq1A polymorphism, a significant association was found in the allele frequency (A1 versus A2: OR 0.71, 95% CI 0.52-0.98, p=0.03). Stratification by ethnicity indicated an association between the Taq1A polymorphism and schizophrenia in Asians, but not Caucasians. The present study suggests that the -141C Ins/Del polymorphism carries a significantly increased risk of schizophrenia, while the Taq1A polymorphism carries a significantly decreased risk of schizophrenia susceptibility in Asians.

Diagnostic accuracy of anti-RA33 antibody for rheumatoid arthritis: systematic review and meta-analysis.

OBJECTIVES: The main purpose of this meta-analysis is to evaluate the diagnostic value of anti-RA33 antibody for rheumatoid arthritis. METHODS: In order to obtain eligible studies, a systematic literature search was performed on PubMed, Web of science, EBSCO, CNKI and CBM from January 2000 to September 2015. Quality Assessment of Diagnostic Accuracy Studies (QUADAS) was employed to assess the quality of the relevant studies. Meta-disc 1.4 and Stata 11.0 were adopted in this meta-analysis. RESULTS: After rigorous review, fifty studies were included in this study, which are all reliable to summarise the diagnostic value in this meta-analysis. The result of the analysis shows the pooled sensitivity is 0.33 (95% confidence interval (CI): 0.31-0.34) and the specificity is 0.90 (95% CI: 0.89-0.90), for the diagnosis of rheumatoid arthritis. Besides, the area under the summary ROC curve (AUC) is 0.6863. CONCLUSIONS: The current evidence suggests that anti-RA33 antibody has high diagnostic specificity value for rheumatoid arthritis, which may be useful for the disease diagnostic application. To verify this conclusion, more prospective research on the diagnostic value of anti-RA33 antibody for rheumatoid arthritis are needed in the future.

Association study of copy number variants in FCGR3A and FCGR3B gene with risk of ankylosing spondylitis in a Chinese population.

Ankylosing spondylitis (AS) is a common inherited autoimmune disease. Copy number variation (CNV) of DNA segments has been found to be an important part of genetic variation, and the FCGR3A and FCGR3B gene CNVs have been associated with various autoimmune disorders. The aim of the study was to determine whether CNVs of FCGR3A and FCGR3B were also associated with the susceptibility of AS. A total of 801 individuals including 402 AS patients and 399 healthy controls were enrolled in this study. The copy numbers of FCGR3 gene (two fragments, included FCGR3A and FCGR3B) were measured by AccuCopy™ methods. Chi-square test and logistic regression model were used to evaluate association between FCGR3 gene CNVs and AS susceptibility. P values, odds ratio, and 95% confidence intervals (CIs) were used to estimate the effects of risk. Significantly, difference in the frequencies of FCGR3A and FCGR3B gene CNVs was founded between the patients with AS and controls. For the FCGR3A gene, a low (≤3) copy number was significantly associated with AS [for ≤3 copies versus 4 copies, (OR 2.17, 95% CI (1.41, 3.34), P < 0.001, adjusted OR 2.22, 95% CI (1.44, 3.43), P < 0.001)]. A low FCGR3B copy number was also significantly associated with increasing risk of AS [for ≤3 copies versus 4 copies, (OR 1.87, 95% CI (1.25, 2.79), P = 0.002, adjusted OR 1.94, 95% CI (1.29, 2.91), P = 0.001)]; however, both the high FCGR3A and FCGR3B copy numbers (≥5) were not significantly associated with the risk of AS (≥5 copies versus 4 copies). The lower copy numbers (≤3) of FCGR3A and FCGR3B genes confer a risk factor for AS susceptibility.

Association of ß-defensin gene copy number variations with ankylosing spondylitis in Chinese population: A case-control study.

OBJECTIVES: To explore the association of ß-defensin gene copy number variations (CNVs) with ankylosing spondylitis (AS). METHODS: In this study, 405 unrelated Chinese Han patients with AS and 401 unrelated healthy controls were enrolled. The copy numbers of DEFB4 gene (2 fragments) were measured by AccuCopy™ methods. The association of DEFB4 gene CNVs with AS susceptibility was analyzed by chi-square and logistic regression models. Besides, P values, odds ratio, and 95% confidence intervals (CIs) were used to estimate the effects of risk. RESULTS: The range of DEFB4_1 CN was 0-7 and the range of DEFB4_2 CN was 1-8 both in patients and controls. P values of χ(2) trend test for the association of DEFB4_1 and DEFB4_2 with AS were 0.607 and 0.005, respectively. The results of DEFB4_2, compared with the individual having median 3 copies, those carrying ≤ 2-copies [OR = 0.68, 95%CI: (0.46, 0.99), P = 0.049; adjusted OR = 0.69, 95%CI(0.47, 1.03), P = 0.067.]; and those carrying ≥ 4-copies [OR = 0.62, 95%CI: (0.45, 0.86), P = 0.004; adjusted OR = 0.64, 95%CI: (0.46, 0.88), P = 0.006], were significantly associated with decreasing risk of AS. Univariate analysis showed that both DEFB4_1 and DEFB4_2 were associated with Bath AS Disease Activity Index or BASDAI. After adjusted by age, sex, and disease duration, the results changed little, which demonstrated that high copies may be linked with decrease in the risk of disease severity [OR = 0.71, 95%CI: (0.56, 0.90), P = 0.005; OR = 0.75, 95%CI: (0.60, 0.94), P = 0.013, respectively]. CONCLUSIONS: The CNs of DEFB4 gene may be associated with AS and involved in disease progression.