[Clinical, imaging and pathological and molecular characteristics of simple bone cyst].

Objective: To investigate the radiologic, pathologic, and molecular features of simple bone cysts (SBC), and their differential diagnoses. Methods: Fourteen cases of SBC were collected at the Department of Pathology, the First Affiliated Hospital of Nanjing Medical University from 2017 to 2022, and fluorescence in situ hybridization (FISH) was performed for retrospective analysis. Results: There were 14 patients, including 7 females and 7 males, with age range of 7 to 45 (median 29) years. The most common complaint was pain, including 4 cases with pathological fracture and 5 with history of previous trauma. The tumor size ranged from 3.4 to 13.5 (median 5.6) cm. The lesion involved the femur (n=4), humerus (n=5) and iliac bone (n=5). Radiologic diagnoses included SBC, aneurysmal bone cyst, and giant cell tumor of the bone or its combination with aneurysmal bone cyst-like region and fibrous dysplasia. Histologically, the cyst walls of the lesions were composed of fibrous tissue, fibrin-like collagen deposits, bone-like matrix and occasional woven bone. The lesional cells were spindled to ovoid, with scattered osteoclast-like giant cells, foamy histiocytes, hemosiderin deposits and cholesterol clefts. In 6 cases there were nodular fasciitis-like areas. Immunohistochemically, the spindled to ovoid cells were positive for SMA, EMA and SATB2 in varying degrees. FISH detection was performed in all 14 cases and EWSR1/FUS rearrangement were found in 9 cases. One case of FUS::NFATC2 fusion was detected by next-generation sequencing. Nine cases of SBC with the rearrangement were more cellular, and there were more mitotic figures in the recurrent FUS::NFATC2 fusion tumor. Clinical follow-up was obtained in all 14 cases with the time ranging from 5 to 105 (mean 46) months. Amongst them, the tumor with FUS::NFATC2 rearrangement had local recurrence twice after the first local excision, but had no more recurrence or metastasis 34 months after the subsequent segmental resection. The other 13 cases had no recurrence. Conclusions: EWSR1 or FUS rearrangement is most commonly identified in SBC, suggesting that SBC might be a neoplastic disease. In cases where the radiologic appearance and histomorphology are difficult to differentiate from aneurysmal bone cyst, FISH detection can aid in the definitive diagnosis.

[Application of carbon nanoparticles mapping lymph nodes in curative resection for colorectal carcinoma].

Objective: To investigate the clinical application of carbon nanoparticles mapping lymph nodes in curative resection for colorectal carcinoma. Methods: Patients diagnosed with colorectal cancer before operation and undergoing radical surgery with intact postoperative pathological data in the Sixth Affiliated Hospital, Sun Yat-sen University from March 2016 to March 2018 were included in this retrospective case-control study. Those who were diagnosed with ileus, recurrent carcinoma or underwent emergency operation were excluded. A total of 1421 cases were included, with 156 cases in the carbon nanoparticles mapping group and 1265 cases in the control group. Using 1∶3 case control matching based on gender, weight, TNM staging and neoadjuvant chemotherapy, 145 and 435 cases were finally recruited in the carbon nanoparticles mapping group and control group, respectively. Patients in the carbon nanoparticles mapping group underwent preoperative colonoscopy with carbon nanoparticles submucosal injection 2.4 (1.0 - 14.0) days before operation. Carbon nanoparticles of 0.25 ml was injected at 4 points (3, 6, 9 and 12 o'clock each) 0.5-1.0 cm around the tumor. The number of eliminated lymph node, number of positive lymph node and positive rate between the two groups were compared, and the number of eliminated lymph node in different subgroups of T stage, N stage, TNM stage and neoadjuvant chemotherapy was analyzed and compared. Results: After case control matching, total number of eliminated lymph nodes in the carbon nanoparticles mapping group was significantly higher than that in the control group (22.2±11.2 vs. 19.0±9.5, t=3.025, P=0.003). However, no statistically significant differences were found in the number of positive lymph node and lymph node positive rate between two groups (all P>0.05). Subgroup analysis showed that as compared to the control group, total number of eliminated lymph nodes in the carbon nanoparticles mapping group was significantly higher in T3 stage subgroup (median: 22 vs. 18, Z=2.435, P=0.015), N0 stage subgroup (median: 20.5 vs. 17.5, Z=2.772, P=0.006), TNM II stage subgroup (median: 23.5 vs. 19.0, Z=2.654, P=0.008) and neoadjuvant chemotherapy (median: 22.5 vs. 13.0, Z=3.287, P=0.001), while compared to the control group, the number of positive lymph node (median: 4.0 vs. 6.5, Z=-2.530, P=0.011) and the lymph node metastasis degree (median: 16% vs. 31%, Z=-2.862, P=0.004) were lower in the carbon nanoparticles mapping group in N2 subgroup. Conclusion: Carbon nanoparticles mapping lymph nodes can effectively enhance the number of eliminated lymph nodes in curative resection for colorectal cancer.

miR-382-3p Overexpression attenuates N-methyl-D-aspartate-induced HT22 cell apoptosis via the regulation of the RhoC/ROCK1 signaling pathway.

miR-382-3p can regulate apoptosis through multiple pathways, but the mechanism remains unknown. In this experiment, we explored whether miR-382-3p can modulate the N-methyL-D-aspartate (NMDA)- induced HT22 cell apoptosis by regulating the RhoC/ROCK1 signaling pathway. An excitatory neurotoxicity model of HT22 cells was induced in vitro with 2 mmol/L NMDA. The cells were divided into normal control, NMDA-induced, NMDA + miR-382-3p mimic, and NMDA + miR-382-3p inhibitor groups. The 3-(4,5)-dimethylthiahiazo (-z-y1)-3,5-di-phenytetrazoliumromide (MTT) method, Real-time PCR, Western blot, and flow cytometry were performed to investigate the mechanisms. The results found that NMDA can increase the oxidative stress of HT22 cells in a dose-dependent manner, downregulate the expression of miR-382-3p, upregulate the expression of mRNA and protein abundance of ROCK1 and RhoC, increase the expression levels of proapoptotic proteins Bax, Caspase-3, and Caspase-9, increase the apoptosis of HT22 cells, and reduce the activity and survival rate of HT22 cells. Compared with the NMDA-induced group, the miR-382-3p mimic-transfected HT22 cells increased the expression of miR- 382-3p, reduced the expression of the mRNA and protein abundance of ROCK1 and RhoC, inhibited the expression of proapoptotic proteins Bax, Caspase-3, and Caspase-9, reduced the apoptosis of HT22 cells, and increased the activity and survival rate of HT22 cells. The results suggest that increasing the expression of miR-382-3p can inhibit the activity of the RhoC/ROCK1 signaling pathway, reduce the expression of proapoptotic proteins, reduce the oxidative stress and apoptosis of HT22 cells, and increase the activity and survival rate of HT22 cells.

Detection of bone marrow oedema in knee joints using a dual-energy CT virtual non-calcium technique.

AIM: To evaluate bone marrow oedema in knee joints quantitatively and qualitatively using a dual-energy computed tomography (CT) virtual non-calcium (VNCa) technique. MATERIALS AND METHODS: Thirty-five patients with knee joint injuries underwent both dual-energy CT and magnetic resonance imaging (MRI) between March 2018 and November 2018. The presence of bone marrow oedema was assessed by two independent radiologists with the use of colour-coded dual-energy CT VNCa images and measured attenuation on them. The biggest area of bone marrow oedema on axial images was measured by another radiologist using the dual-energy CT and MRI images, respectively. Attenuation values were subjected to receiver operating characteristic (ROC) curve analysis and oedema area sizes were subjected to paired t-test analysis. RESULTS: In qualitative analysis, colour-coded VNCa images had an overall sensitivity of 88.4%, specificity of 98%, positive predictive value of 92.7%, negative predictive value of 96.8%, and accuracy of 95.9%. Attenuation values obtained from colour-coded VNCa images were significantly different in knee joint regions with and without oedema (p<0.001). ROC curve analysis revealed an area under the curve (AUC) of 0.910. A cut-off value of -67 HU provided a sensitivity of 81.4%, specificity of 99.3%, accuracy of 90.4%, positive predictive value of 99.1%, and negative predictive value of 84.2% for the differentiation of oedematous knee joint regions. Significant differences in the size of oedema area were not found between them. CONCLUSION: Dual-energy CT VNCa can be used to evaluate bone marrow oedema effectively.

Clinical significance of lncRNA FAM83H-AS1 in ovarian cancer.

OBJECTIVE: The aim of this study was to explore the expression of long non-coding RNA (lncRNA) FAM83H-AS1 and its clinical significance in ovarian cancer (OC). PATIENTS AND METHODS: Quantitative Real Time-Polymerase Chain Reaction (qRT-PCR) was performed to examine the expression level of lncRNA FAM83H-AS1 in 100 pairs of OC tissues and para-cancerous specimens. Meanwhile, the relationship between lncRNA FAM83H-AS1 expression and clinical features of OC patients was analyzed. According to the mean expression level of lncRNA FAM83H-AS1 (3.693), OC patients were divided into two groups, including the high-expression group (n=48) and low-expression group (n=52). After that, the association between lncRNA FAM83H-AS1 expression and clinicopathological features of OC patients was analyzed. Moreover, the correlation between the expression level of lncRNA FAM83H-AS1 and the survival time of patients was estimated using the Kaplan-Meier method. After OVCAR-3 cells were transfected with Si-FAM83H-AS1 or si-NC, the expression of FAM83H-AS1 in OVCAR-3 cells was detected by qRT-PCR. RESULTS: First, qRT-PCR was used to detect the expression of lncRNA FAM83H-AS1 in OC tissues and cell lines. The results showed that lncRNA FAM83H-AS1 was significantly up-regulated in both OC tissues and OC cells when compared with normal controls. Meanwhile, lncRNA FAM83H-AS1 expression was correlated with tumor pathological grade, FIGO stage and distant metastasis of OC patients. Survival analysis was performed by the Kaplan-Meier method. The results indicated that the overall survival time of patients with higher lncRNA FAM83H-AS1 expression was markedly shorter than those with lower lncRNA FAM83H-AS1 expression. In addition, down-regulation of lncRNA FAM83H-AS1 by si-FAM83H-AS1 transfection could remarkably inhibit proliferation and invasion of OC cells in vitro. CONCLUSIONS: LncRNA FAM83H-AS1 was a novel factor involved in OC progression. Our findings suggested that FAM83H-AS1 could serve as a potential biomarker and therapeutic target for OC.

[Voxel-based morphometry (VBM) MRI analysis of gray matter in patients with occupational noise-induced hearing loss].

Objective: To investigate the changes of brain gray matter volume in patients with occupational noise-induced hearing loss by voxel based morphometry (VBM) . Methods: 16 age-and education-matched healthy controls and 42 patients with occupational noise induced hearing loss, including 27 in mild group and 15 in severe group, received MRI 3D-FSPGR sequence T1WI sagittal scan, and then underwent VBM of brain gray matter volume data analysis. Results: The brain gray matter volume of the left occipitotemporal lateral gyrus, the anterior cingulate gyrus, the bilateral angular gyrus, the precuneus and the near midline area of cerebellum differed between experimental group and control group (P<0.01) . Conclusion: The volume of gray matter in specific brain areas of patients with occupational noise-induced hearing loss was changed, and the effect of noise on brain structure was revealed from the perspective of imaging.

[Value of immunocytochemistry in differential diagnosis of gastric adenocarcinoma, reactive mesothelial cells and malignant epithelial mesothelioma in metastatic effusion fluid].

Objective: To investigate the diagnostic value of some antibodies in peritoneal fluid of patients with gastric cancer and malignant epithelioid mesothelioma in serous effusion. Methods: One hundred and eighty-two cases of serous effusion were collected at Jilin Cancer Hospital, from July 2012 to July 2016. The expression of GLUT1, CDX2, Villin, calretinin and WT1 was evaluated using SP immunocytochemical technique in peritoneal fluid samples collected from 98 patients with gastric cancer and 74 patients with reactive mesothelial cells. The expression of GLUT1, calretinin and WT1 was also evaluated in serous effusion from 10 patients with mesothelioma. Results: The sensitivity of GLUT1, CDX2 and Villin in adenocarcinoma cells was 91.8%(90/98), 68.4% (67/98) and 88.8%(87/98), respectively. The specificity was 95.9% (71/74), 100.0%(74/74) and 100.0% (74/74), respectively. The sensitivity of calretinin and WT1 for reactive mesothelium was 93.2% (69/74) and 79.7% (59/74), respectively. The specificity was 96.9% (95/98) and 100.0% (98/98), respectively. The sensitivity of GLUT1, calretinin and WT1 for mesothelioma was 9/10, 9/10 and 7/10. The reactivity of GLUT1, CDX2, Villin, calretinin and WT1 showed a significant difference (P<0.01) between adenocarcinoma cells and reactive mesothelium. The reactivity of GLUT1 showed a significant difference (P<0.01) between mesothelioma and reactive mesothelium. Conclusions: The optimal combination is a panel of GLUT1, CDX2, Villin, calretinin and WT1 for differential diagnosis between adenocarcinoma cells and reactive mesothelium in peritoneal fluid of patients with gastric cancer. Whereas GLUT1, calretinin and WT1 is the best for differential diagnosis between reactive mesothelium and mesothelioma in serous effusions.

Plasma melatonin levels do not differ in SLE patients.

OBJECTIVE: This study aims to investigate the plasma melatonin levels in systemic lupus erythematosus (SLE) patients and its relationship with clinical and laboratory features. PATIENTS AND METHODS: A total of 90 patients with SLE (82 females, 8 males; mean age 37.86 ± 13.98 years, range 19-77 years) and 90 healthy controls (82 females, 8 male; mean age 36.54 ± 10.89 years, range 22-60 years) were recruited for the current study. Plasma melatonin levels were detected by enzyme-linked immunosorbent assay. RESULTS: Melatonin levels were not significantly different in the plasma of patients with SLE compared with controls (P = 0.026). There was no significant difference regarding plasma melatonin level between SLE patients with nephritis and those without nephritis (P = 0.714); no significant difference was found between less active SLE and more active SLE (P = 0.791). The presence of IgM was associated with melatonin levels (P = 0.031) in SLE patients. CONCLUSIONS: There is no significant difference in plasma melatonin levels between SLE patients and controls. Further studies are needed to elucidate the role of melatonin in SLE.

Effect of Triptolide on retinal ganglion cell survival in an optic nerve crush model.

Optic nerve crush model could be used to investigate the mechanism of neuronal survival and axonal regeneration in central nervous system. Triptolide, a Chinese herb extract with anti-inflammatory and immunosuppressive activities, has shown neuron protective functions in nervous system. In this study, we investigated the changes in retinal ganglion cell survival and axonal regeneration after administration of triptolide in optic nerve crush model. Triptolide treatment tended to promote retinal ganglion cell survival rather than optic nerve regeneration as well as inhibit the expression of tumor necrosis factor-α and activation of nuclear factor-kappa B. These findings suggested that intraperitoneal injection of triptolide may be an effective treatment for optic nerve injury and this effect was attributed at least in part to its anti-inflammatory actions.

Body girdle reduced fat deposition and altered other body parameters in rats.

Many women favor in wearing foundation garments to shape their body and show satisfactory figures. However, few investigations have been conducted on the physiological impact of wearing tight garments on the body. In this study, we used girdled rats that were fed with a high fat diet to investigate their physiological condition including alterations in food intake, body weight, fat deposition, and hormone concentrations. Over the experiment period, girdled rats maintained normal plasma and liver cholesterol and triglyceride. Leptin level in girdled rats was significantly lower than that in normal control. The fat tissue of girdled rats was more active in secretion of leptin, which might be mediated by mTOR signaling. Girdled rats showed no difference in hematology analysis during the experiment period. This study showed that a body girdle can significantly reduce fat deposition and alter other body parameters in rats.

EZH2-mediated epigenetic suppression of long noncoding RNA SPRY4-IT1 promotes NSCLC cell proliferation and metastasis by affecting the epithelial-mesenchymal transition.

Recent evidence indicates that long noncoding RNAs (lncRNAs) have a critical role in the regulation of cellular processes such as differentiation, proliferation, and metastasis. These lncRNAs are dysregulated in a variety of cancers and many function as tumor suppressors; however, the regulatory factors involved in silencing lncRNA transcription are poorly understood. In this study, we showed that epigenetic silencing of lncRNA SPRY4 intronic transcript 1 (SPRY4-IT1) occurs in non-small-cell lung cancer (NSCLC) cells through direct transcriptional repression mediated by the Polycomb group protein enhancer of zeste homolog 2 (EZH2). SPRY4-IT1 is derived from an intron within SPRY4, and is upregulated in melanoma cells; knockdown of its expression leads to cell growth arrest, invasion inhibition, and elevated rates of apoptosis. Upon depletion of EZH2 by RNA interference, SPRY4-IT1 expression was restored, and transfection of SPRY4-IT1 into NSCLC cells resulted in a significant antitumoral effect, both in culture and in xenografted nude mice. Moreover, overexpression of SPRY4-IT1 was found to have a key role in the epithelial-mesenchymal transition through the regulation of E-cadherin and vimentin expression. In EZH2-knockdown cells, which characteristically showed impaired cell proliferation and metastasis, the induction of SPRY4-IT1 depletion partially rescued the oncogenic phenotype, suggesting that SPRY4-IT1 repression has an important role in EZH2 oncogenesis. Of most relevance, translation of these findings into human NSCLC tissue samples demonstrated that patients with low levels of SPRY4-IT1 expression had a shorter overall survival time, suggesting that SPRY4-IT1 could be a biomarker for poor prognosis of NSCLC.

Helicobacter pylori infection predicts favorable outcome in patients with gastric cancer.

BACKGROUND: Recent studies have suggested a controversial role of Helicobacter pylori infection in gastric cancer prognosis. The aim of the present study was to investigate the potential impact of H. pylori status on the prognosis of patients with gastric cancer in a Chinese prospective cohort. METHODS: Between 2007 and 2009, 261 patients with curatively resected gastric cancer were enrolled in the study. H. pylori status was defined by means of immunohistochemical staining in tumour and non-neoplastic tissues. Treatment prognosis was measured in terms of cancer-specific survival and disease-free survival (dfs). Univariate and multivariate Cox regression models were used to assess the association between H. pylori status and patient prognosis. RESULTS: Positivity for H. pylori infection was observed in 188 of the 261 patients (72.0%). In patients positive for H. pylori, mean cancer-specific survival was 55.2 months [95% confidence interval (ci): 53.4 to 56.9 months] and mean dfs was 53.9 months (95% ci: 51.8 to 56.0 months); the same survivals were, respectively, 45.1 months (95% ci: 42.2 to 47.9 months) and 43.7 months (95% ci: 40.4 to 47.0 months) in patients negative for H. pylori. In univariate analysis, positive H. pylori status was associated with better cancer-specific survival [hazard ratio (hr): 0.486; 95% ci: 0.271 to 0.870; p = 0.015] and dfs (hr: 0.540; 95% ci: 0.307 to 0.950; p = 0.033). In multivariate analysis, H. pylori was an independent prognostic factor for cancer-specific survival (hr: 0.485; 95% ci: 0.265 to 0.889; p = 0.019). CONCLUSIONS: Our study demonstrates that positive H. pylori status is a beneficial prognostic indicator in patients with gastric cancer and might suggest possible therapeutic approaches for gastric cancer. Further research is required to better understand inflammation mechanisms and cancer progression.

Activation of caspase-3 and its correlation with shear force in bovine skeletal muscles during postmortem conditioning.

The study was aimed at exploring the mechanism of tenderization by establishing a correlation between caspase-3 activity and shear force, verifying the activation occurring by analyzing active caspase-3 and cleaved poly (ADP-ribose) polymerase (PARP) fragments, and understanding the pathways involved in activation of caspase-3 by evaluating its correlation with caspase-8 and -9 activities in LM, semitendinosus (STN), and psoas minor (PM) muscles. The results indicated that shear force decreased at 48 h in PM (P < 0.01), LM (P < 0.01), and STN (P < 0.05). We detected p22, p23, p20, and p18 caspase fragments as well as distinctive PARP fragments of 24 kDa by caspase-3 and 36 kDa by µ-calpain. Caspase-3 activity correlated with shear force negatively at 24 and 48 h in STN (P < 0.01 at 24 h; P < 0.01 at 48 h), PM (P < 0.001 at 24 h; P < 0.01 at 48 h), and LM muscles (P < 0.05 at 24 h; P < 0.01 at 48 h). The greatest activities of caspase-8 (P < 0.001 in PM and STN; P < 0.01 in LM) and caspase-9 (P < 0.001 in muscles) appeared at 4 h whereas that of caspase-3 was at 24 h (P < 0.001 in muscles). Caspase-9 activity correlated positively with caspase-3 at 4, 24, and 48 h in STN (P < 0.01 at 4 h; P < 0.05 at 24 h; P < 0.001 at 48 h) and at 4 and 96 h in PM (P < 0.001 at 4 h; P < 0.05 at 96 h) and LM muscles (P < 0.001 at 4 h; P < 0.001 at 96 h). The caspase-8 activity correlated with caspase-3 at 4, 48, and 96 h in STN (P < 0.05 at 4 h; P < 0.001 at 48 h; P < 0.05 at 96 h), at 4 and 24 h in PM (P < 0.001 at 4 h; P < 0.05 at 24 h), and at 4 and 96 h in LM (P < 0.001 at 4 h; P < 0.01 at 96 h). We concluded that caspase-3 was associated with the decline of shear force; the activation of caspase-3 was mediated by caspases -8 and -9 in muscles. However, more detailed studies are needed to define the precise mechanism for the cleavage of pro-caspases -8 and -9 during conditioning.

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.

Tumor necrosis factor (TNF)-α upregulates progesterone receptor-A by activating the NF-κB signaling pathway in human decidua after labor onset.

To date, the relationship between inflammatory cytokines and progesterone receptors (PRs) has been little studied, although both mediate the mechanism of parturition in human deciduas. Thus, the aim of study was to investigate the role of an inflammatory cytokine, tumor necrosis factor (TNF)-α, in regulating progesterone withdrawal in decidua at human parturition. TNF-α levels and PR isoforms were compared in intrauterine deciduas from women who were in labor (IL, n = 10) or who were not in labor (NIL, n = 10). Nuclear factor-kappaB (NF-κB) signaling and PR status were analyzed in NIL deciduas after TNF-α stimulation. Immunohistochemistry, western blotting, ELISA and reverse transcription-polymerase chain reaction (RT-PCR) were used to localize and quantitate protein and mRNA expression. TNF-α immunostaining, protein levels, PR-A/PR-B ratio and COX-2 level were significantly higher in IL deciduas (all P < 0.05). NF-κB was activated by TNF-α after 24 h stimulation in a dose-dependent manner, and was significantly inactivated by the NF-κB inhibitor panepoxydone, which was associated with decreased PR-A and COX-2 expression (P < 0.05) in not in labor deciduas. In conclusion, TNF-α may have an important role in regulating progesterone withdrawal in human decidua following labor onset.

Association of NFKB1 -94ins/delATTG promoter polymorphism with susceptibility to autoimmune and inflammatory diseases: a meta-analysis.

The aim of our study is to assess the association of NFKB1 -94ins/delATTG promoter polymorphism with autoimmune and inflammatory diseases using a meta-analysis. We surveyed the studies on the association of NFKB1 -94ins/delATTG promoter polymorphism with autoimmune and inflammatory diseases. Meta-analysis was performed for genotypes DD vs WW, WD vs WW, DD vs WW + WD, WD + DD vs WW, and D allele vs W allele in a fixed/random effect model. Seventeen studies (7312 cases and 6193 controls) were identified. When all groups were pooled, we found no association between NFKB1 -94ins/delATTG promoter polymorphism and autoimmune and inflammatory diseases. In ethnic subgroup analyses, we found no association between NFKB1 -94ins/delATTG promoter polymorphism and autoimmune and inflammatory diseases in the Caucasian population. However, an association of NFKB1 -94ins/delATTG promoter polymorphism with autoimmune and inflammatory diseases was found in the Asian population [D vs W: odds ratio (OR) = 0.87, 95% confidence interval (CI) = 0.77-0.99, P = 0.03; WD + DD vs WW: OR = 0.79, 95% CI = 0.65-0.95, P = 0.01; DD vs WW + WD: OR = 0.92, 95% CI = 0.73-1.16, P = 0.11; DD vs WW: OR = 0.80, 95% CI = 0.62-1.03, P = 0.09; WD vs WW: OR = 0.78, 95% CI = 0.65-0.95, P = 0.01]. In disease subgroup analyses, we found no association between NFKB1 -94ins/delATTG promoter polymorphism and inflammatory bowel disease, ankylosing spondylitis and Graves' disease. This meta-analysis suggests a possible association between NFKB1 -94ins/delATTG promoter polymorphism and certain autoimmune and inflammatory diseases in the Asian population, but not in the Caucasian population. This finding demands further investigation.

Association of SUMO4 M55V polymorphism with susceptibility to autoimmune and inflammatory diseases: a meta-analysis.

The purpose of this study was to generate large-scale evidence on whether SUMO4 M55V polymorphism is associated with autoimmune and inflammatory diseases using a meta-analysis. We surveyed studies on the association of SUMO4 M55V polymorphism with autoimmune and inflammatory diseases in PubMed. Meta-analysis was performed for genotypes AG versus AA, GG versus AA, GG versus AA + AG, AG + GG versus AA and G allele versus A allele in a fixed/random effect model. We identified 16 studies (11, 407 cases and 10, 679 controls) using PubMed search. When all groups were pooled, we detected the association of SUMO4 M55V polymorphism with autoimmune and inflammatory diseases (G versus A: OR = 1.11, 95%CI = 1.03-1.19, P = 0.005; AG +GG versus AA: OR=1.17, 95%CI=1.06-1.28, P=0.001; GG versus AA+AG: OR=1.07, 95%CI=0.94-1.21, P=0.29; GG versus AA: OR=1.15, 95%CI=1.00-1.34, P=0.06; AG versus AA: OR=1.15, 95%CI=1.08-1.23, P<0.0001). In subgroup analyses, we detected the association of SUMO4 M55V polymorphism with autoimmune and inflammatory diseases in Asian population (G versus A: OR=1.18, 95%CI=1.08-1.28, P=0.0001; AG+GG versus AA: OR=1.30, 95%CI=1.16-1.45, P<0.00001; GG versus AA+AG: OR=1.04, 95%CI=0.78-1.37, P=0.80; GG versus AA: OR=1.20, 95%CI=0.99-1.45, P=0.07; AG versus AA: OR=1.32, 95%CI=1.18-1.49, P<0.00001). But the association was not found in Caucasian population. Meanwhile, an association of SUMO4 M55V polymorphism with autoimmune diabetes was found (G versus A: OR=1.18, 95%CI=1.08-1.30, P=0.0005; AG+GG versus AA: OR=1.22, 95%CI=1.13-1.32, P<0.00001; GG versus AA+AG: OR=1.15, 95%CI=0.96-1.38, P=0.13; GG versus AA: OR=1.32, 95%CI=1.08-1.60, P=0.006; AG versus AA: OR=1.23, 95%CI=1.13-1.33, P<0.00001). This meta-analysis demonstrates the association of SUMO4 M55V polymorphism with autoimmune and inflammatory diseases, especially in Asian population.