Association of the IL-6 -174G > C (rs1800795) Polymorphism with Adolescent Idiopathic Scoliosis: Evidence from a Case-Control Study and Meta-Analysis.

Recent epidemiological studies have identified that the -174G > C (rs1800795) polymorphism in the promoter region of the interleukin-6 ( IL-6 ) gene is associated with the risk of developing adolescent idiopathic scoliosis (AIS), but they presented inconsistent and controversial results. Thus, we performed a case-control study and meta-analysis to derive a more precise estimation of the relationship between the IL-6 -174G > C polymorphism and the risk of developing AIS. A total of 80 patients with AIS and 80 matched healthy control subjects were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. In addition, all eligible studies published up to June 2018 were identified through a search in the PubMed, EMBASE, Google Scholar, and China National Knowledge Infrastructure (CNKI) databases. We calculated the odds ratios (ORs) and 95% confidence intervals (95%CIs) to assess the association. A total of 10 eligible studies comprising 1,695 AIS cases and 2,097 healthy controls were included in the meta-analysis. The pooled data suggested a significant association between the IL-6 -174G > C polymorphism and the susceptibility to develop AIS, which was demonstrated under 4 genetic models, that is, the allelic (C versus G; OR = 0.671; 95%CI: 0.457-0.985; p = 0.042), heterozygous (CG versus GG; OR = 0.734; 95%CI: 0.554-0.973; p = 0.032), dominant (CC + CG versus GG; OR = 0.660; 95%CI: 0.440-0.990; p = 0.044) and recessive models (CC versus CG + GG; OR = 0.506; 95%CI: 0.264-0.970; p = 0.040). The stratification analysis by ethnicity revealed an increased risk of developing AIS in Caucasians, but not in Asians. The present meta-analysis, which is inconsistent with the previous meta-analysis, suggests that the IL-6 -174G > C polymorphism may increase the individual susceptibility to develop AIS, especially in Caucasians, and it could serve as a biomarker to predict the population at high risk of developing AIS.

Association of the IL-6 -174G > C (rs1800795) Polymorphism with Adolescent Idiopathic Scoliosis: Evidence from a Case-Control Study and Meta-Analysis / Associação do polimorfismo IL-6 -174G > C (rs1800795) com escoliose idiopática da adolescência: Evidências de um estudo de caso-controle e metanálise

Abstract Recent epidemiological studies have identified that the -174G > C (rs1800795) polymorphism in the promoter region of the interleukin-6 (IL-6) gene is associated with the risk of developing adolescent idiopathic scoliosis (AIS), but they presented inconsistent and controversial results. Thus, we performed a case-control study and meta-analysis to derive a more precise estimation of the relationship between the IL-6 -174G > C polymorphism and the risk of developing AIS. A total of 80 patients with AIS and 80 matched healthy control subjects were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. In addition, all eligible studies published up to June 2018 were identified through a search in the PubMed, EMBASE, Google Scholar, and China National Knowledge Infrastructure (CNKI) databases. We calculated the odds ratios (ORs) and 95% confidence intervals (95%CIs) to assess the association. A total of 10 eligible studies comprising 1,695 AIS cases and 2,097 healthy controls were included in the meta-analysis. The pooled data suggested a significant association between the IL-6 -174G > C polymorphism and the susceptibility to develop AIS, which was demonstrated under 4 genetic models, that is, the allelic (C versus G; OR = 0.671; 95%CI: 0.457-0.985; p = 0.042), heterozygous (CG versus GG; OR = 0.734; 95%CI: 0.554-0.973; p = 0.032), dominant (CC + CG versus GG; OR = 0.660; 95%CI: 0.440-0.990; p = 0.044) and recessive models (CC versus CG + GG; OR = 0.506; 95%CI: 0.264-0.970; p = 0.040). The stratification analysis by ethnicity revealed an increased risk of developing AIS in Caucasians, but not in Asians. The present meta-analysis, which is inconsistent with the previous meta-analysis, suggests that the IL-6 -174G > C polymorphism may increase the individual susceptibility to develop AIS, especially in Caucasians, and it could serve as a biomarker to predict the population at high risk of developing AIS.

Resumo Estudos epidemiológicos recentes identificaram que o polimorfismo -174G > C (rs1800795) na região promotora do gene interleucina-6 (IL-6) está associado ao risco de desenvolver escoliose idiopática da adolescência (EIA), mas apresentaram resultados inconsistentes e controversos. Assim, realizamos um estudo de caso-controle e metanálise para obter uma estimativa mais precisa da relação entre o polimorfismo IL-6 -174G > C e o risco de desenvolver EIA. Um total de 80 pacientes com EIA e 80 controles saudáveis pareados foram genotipados usando o ensaio de reação em cadeia de polimerase de polimorfismos de comprimento de fragmentos de restrição (RCP-PCFR). Além disso, todos os estudos elegíveis publicados até junho de 2018 foram identificados por meio de uma pesquisa nas bases de dados PubMed, EMBASE, Google Scholar e China National Knowledge Infrastructure (CNKI). Calculamos as razões de probabilidades (RPs) e os intervalos de confiança de 95% (ICs95%) para avaliar a associação. Um total de 10 estudos elegíveis compreendendo 1.695 casos de EIA e 2.097 controles saudáveis foram incluídos na metanálise. Os dados agrupados sugeriram uma associação significativa entre o polimorfismo IL-6 -174G > C e a suscetibilidade a desenvolver EIA que foi demonstrada em quatro modelos genéticos, ou seja, alélico (C versus G; RP = 0,671; IC95%: 0,457-0,985; p = 0,042), heterozigótico (GC versus GG; RP = 0,734; IC95%: 0,554-0,973; p = 0,032), dominante (CC + GC versus GG; RP = 0,660; IC95%: 0,440-0,990; p = 0,044) e recessivo (CC versus CG + GG; RP = 0,506; IC95%: 0,264-0,970; p = 0,040). A análise de estratificação por etnia revelou um aumento do risco de desenvolver EIA em caucasianos, mas não em asiáticos. Esta metanálise, que é inconsistente com relação à metanálise anterior, sugere que o polimorfismo IL-6 -174G > C pode aumentar a suscetibilidade individual para desenvolver EIA, especialmente em caucasianos, e pode servir como um biomarcador para prever a população com alto risco de desenvolver EIA.

ASSOCIATION OF MMP-7 -181A>G POLYMORPHISM WITH COLORECTAL CANCER AND GASTRIC CANCER SUSCEPTIBILITY: A SYSTEMATIC REVIEW AND META-ANALYSIS.

INTRODUCTION: The matrix metalloproteinase-7 (MMP-7) gene -181A>G polymorphism has been reported to be associated with colorectal cancer (CRC) and gastric cancer (GC) susceptibility, yet the results of these previous results have been inconsistent or controversial. AIM: To elaborate a meta-analysis to assess the association of -181A>G polymorphism of MMP-7 with CRC and GC risk. METHODS: Published literature evaluating the association from PubMed, Web of Science, Google Scholar and other databases were retrieved up to April 25, 2018. Pooled odds ratio (OR) and 95% confidence interval (CI) were calculated using random- or fixed-effects model. RESULTS: A total of 19 case-control studies, which included eleven studies on CRC (2,169 CRC cases and 2,346 controls) and eight studies on GC (1,545 GC cases and 2,366 controls) were identified. There was a significant association between MMP-7 -181A>G polymorphism and GC risk under the homozygote model (GG vs. AA: OR=1.672, 95% CI 1.161-2.409, p=0.006) and the recessive model (GG vs. GA+AA: OR=1.672, 95% CI 1.319-2.554, p=0.001), but not with CRC. By subgroup analysis based on ethnicity, an increased risk of CRC and GC was found only among Asians. CONCLUSIONS: This meta-analysis suggests that MMP-7 -181A>G polymorphisms is associated with GC risk, but not with CRC. However, our results clearly showed that the MMP-7 -181A>G polymorphism significantly increased the risk of CRC only in Asians.

Association of eNOS 27-bp VNTR, 894G>T and 786T>C polymorphisms with susceptibility to Legg-Calve-Perthes Disease in Iranian children.

BACKGROUND: The aim of this study was to analyze the association of eNOS polymorphisms with risk of Legg-Calve-Perthes Disease (LCPD). METHODS: The study comprised of 45 LCPD patients and 55 controls. The eNOS polymorphisms were genotyped with PCR and by PCR-RFLP. RESULTS: The eNOS 894G > T and -786T > C polymorphisms were significantly associated with an increased risk of LCPD. However, there was no significant association between eNOS 27-bp VNTR polymorphism and LCPD risk. CONCLUSION: Our results suggest that the eNOS 894G > T and -786T > C polymorphisms may be a risk factor for LCPD in Iranian children, but not 27-bp VNTR polymorphism.

Association of rs2234693 and rs9340799 polymorphisms of estrogen Receptor-1 gene with radiographic defined knee osteoarthritis: A meta-analysis.

OBJECTIVE: To evaluate the association of ESR1 rs2234693 and rs9340799 polymorphisms with radiographic defined knee osteoarthritis (OA), a case-control and meta-analysis was performed. METHODS: A total of 25 case-control studies with 7,144 cases and 8,468 controls with were included. RESULTS: There was a significant association between rs2234693 polymorphism and radiographic knee OA under heterozygote model (CT vs. TT: OR = 1.164, 95% CI 1.053-1.286, p = 0.003). However, there was no association between rs9340799 and radiographic knee OA. In subgroup analysis by ethnicity, risk estimates were not augmented. CONCLUSIONS: Our results showed that the ESR1 rs2234693 polymorphism might be associated with radiographic defined knee OA, but not rs9340799.

Association of GSTM1, GSTT1, GSTM3, and GSTP1 Genes Polymorphisms with Susceptibility to Osteosarcoma: a Case- Control Study and Meta-Analysis

Background: Some studies have investigated the association of GSTM1, GSTT1, GSTM3, and GSTP1 polymorphisms with susceptibility to osteosarcoma; however, these studies results are inconsistent and inconclusive. In order to drive a more precise estimation, the present case-control study and meta-analysis was performed to investigate association of GSTM1, GSTT1, GSTM3, and GSTP1 polymorphisms with osteosarcoma. Methods: Eligible articles were identified by a search of several electronic databases for the period up to May 5, 2018. Odds ratios were pooled using either fixed-effects or random effects models. Results: Finally, a total of 24 case-control studies with 2,405 osteosarcoma cases and 3,293 controls were included in the present meta-analysis. Overall, significantly increased osteosarcoma risk was found when all studies were pooled into the meta-analysis of GSTT1 (Null vs. Present: OR= 1.247 95% CI 1.020-1.524, P= 0.031) and GSTP1 polymorphism (B vs. A: OR= 8.899 95% CI 2.722-29.094, P≤0.001). In the stratified, significantly increased osteosarcoma risk was observed for GSTT1 polymorphism among Asians (Null vs. Present: OR= 1.300 95% CI 1.034-1.635, P= 0.025), but not among Caucasians. Conclusions: This meta-analysis demonstrated that GSTP1 and GSTT1 null genotype are associated with the risk of osteosarcoma. Future large welldesigned epidemiological studies are warranted to validate our results.

Association of mmp-7 -181A>G polymorphism with colorectal cancer and gastric cancer susceptibility: a systematic review and meta-analysis / Associação do polimorfismo mmp-7 -181a>G com câncer colorretal e suscetibilidade ao câncer gástrico: revisão sistemática e metanálise

ABSTRACT Introduction: The matrix metalloproteinase-7 (MMP-7) gene -181A>G polymorphism has been reported to be associated with colorectal cancer (CRC) and gastric cancer (GC) susceptibility, yet the results of these previous results have been inconsistent or controversial. Aim: To elaborate a meta-analysis to assess the association of -181A>G polymorphism of MMP-7 with CRC and GC risk. Methods: Published literature evaluating the association from PubMed, Web of Science, Google Scholar and other databases were retrieved up to April 25, 2018. Pooled odds ratio (OR) and 95% confidence interval (CI) were calculated using random- or fixed-effects model. Results: A total of 19 case-control studies, which included eleven studies on CRC (2,169 CRC cases and 2,346 controls) and eight studies on GC (1,545 GC cases and 2,366 controls) were identified. There was a significant association between MMP-7 -181A>G polymorphism and GC risk under the homozygote model (GG vs. AA: OR=1.672, 95% CI 1.161-2.409, p=0.006) and the recessive model (GG vs. GA+AA: OR=1.672, 95% CI 1.319-2.554, p=0.001), but not with CRC. By subgroup analysis based on ethnicity, an increased risk of CRC and GC was found only among Asians. Conclusions: This meta-analysis suggests that MMP-7 -181A>G polymorphisms is associated with GC risk, but not with CRC. However, our results clearly showed that the MMP-7 -181A>G polymorphism significantly increased the risk of CRC only in Asians.

RESUMO Introdução: O polimorfismo da matriz metaloproteinase-7 (MMP-7) -181A>G tem sido relatado como associado à suscetibilidade dos cânceres colorretal (CRC) e gástrico (GC), mas os resultados desses estudos anteriores foram inconsistentes ou controversos. Objetivo: Elaborar metanálise para avaliar a associação do polimorfismo -181A> G da MMP-7 com o risco de CRC e GC. Métodos: Revisão da literatura publicada avaliando essa associação no PubMed, Web of Science, Google Acadêmico e outras bases de dados até 25 de abril de 2018. Odds ratio (OR) e o intervalo de confiança de 95% (IC) foram calculados usando dados aleatórios ou modelo de efeitos fixos. Resultados: Um total de 19 estudos caso-controle, que incluíram 11 trabalhos sobre CRC (2.169 casos de CCR e 2.346 controles) e oito sobre GC (1.545 casos de GC e 2.366 controles) foram identificados. Houve associação significativa entre o polimorfismo MMP-7 -181A>G e o risco de GC sob o modelo homozigoto (GG vs. AA: OR=1,672, IC 95% 1,161-2,409, p=0,006) e o modelo recessivo (GG vs. GA + AA: OR=1,672, IC 95% 1,319-2,554, p=0,001), mas não com CRC. Por análise de subgrupos com base na etnia, um risco aumentado de CRC e GC foi encontrado apenas entre os asiáticos. Conclusões: Esta metanálise sugere que os polimorfismos MMP-7 -181A>G estão associados ao risco de GC, mas não ao CRC. No entanto, estes resultados mostraram claramente que o polimorfismo MMP-7 -181A>G aumentou significativamente o risco de CRC apenas em asiáticos.

Association of IL-10 rs1800871 and rs1800872 Polymorphisms with Breast Cancer Risk: A Systematic Review and Meta-Analysis

Background: The rs1800871 and rs1800872 polymorphisms of interleukin 10 (IL-10) gene has been indicated to be associated with breast cancer (BC) risk, but study results are still debatable. To derive a more precise evaluation, we performed a comprehensive meta-analysis. Methods: Multiple electronic databases were searched to identify studies assessing the IL-10 rs1800871 and rs1800872 polymorphisms with BC risk. Results: A total of 21 case-control studies with 6054 cases and 6355 controls were included in this met-analysis. There was a significant association between the rs1800871 polymorphism and BC risk (CT vs. TT: OR= 1.17, 95% CI 1.01-1.35, p=0.02; and CC+CT vs. TT: OR= 1.29, 95% CI 1.00-1.66, p=0.04). Moreover, increased BC risks were also associated with the rs1800872 polymorphism (C vs. A: OR= 1.29, 95% CI 1.04-1.60, p=0.01; CC vs. AA: OR= 1.54, 95% CI 1.03-2.30, p=0.03; CC+CA vs. AA: OR= 1.43, 95% CI 1.01-2.01, p=0.03; and CC vs. CA+AA: OR= 1.23, 95% CI 1.01-1.51, p=0.04). A pooling of the studies was also conducted by ethnicity, but failed to show an association of IL-10 rs1800871 and rs1800872 polymorphism with BC risk in Asians and Caucasians. Conclusions: Our results are inconsistent with previous meta-analysis suggests that IL-10 rs1800871 and rs1800872 polymorphisms might contribute to BC susceptibility in overall population, but not by ethnicity.

Angiotensin Converting Enzyme Insertion/Deletion Polymorphism is Associated with Breast Cancer Risk: A Meta-Analysis

Background: A number of case-control studies were conducted to investigate the association of angiotensin converting enzyme insertion/deletion (ACE I/D) polymorphism with breast cancer. But the results remain controversial. This meta-analysis aims to comprehensively evaluate the association of ACE I/D polymorphism with breast cancer. Method: A comprehensive literature search on PubMed, Google Scholar, SCOPUS and ISI Web of Knowledge databases for studies published up to June 01, 2018 was performed. Summary odds ratios (ORs) and 95% confidence intervals (CI) were estimated. Publication bias of literatures was evaluated using funnel plots and Egger's test. Results: A total of 20 studies including 2846 breast cancer cases 9,299 controls meeting the predefined criteria were involved in the meta-analysis. Overall, the ACE I/D polymorphisms was significantly associated with breast cancer under the allele model (I vs. D: OR= 0.803, 95% CI 0.647-0.996, p=0.046), the homozygote model (II vs. DD: OR= 0.662, 95% CI 0.462-0.947, p=0.024), the heterozygote model (ID vs. DD: OR= 0.707, 95% CI 0.528-0.946, p=0.020), the dominant model (II+ID vs. DD: OR= 0.691, 95% CI 0.507-0.941, p=0.019). In the subgroup analysis by ethnicity, a significant association was found among Asian and Caucasian populations, but not among mixed populations. Conclusions: This meta-analysis suggests that ACE I/D polymorphism may be associated with increased risk of breast cancer, especially among Asian and Caucasians. However, well-designed studies with larger sample size and more ethnic groups are needed to further validate the results.

A case report of osteochondroma with unusual clinical and imaging presentation.

Osteochondroma or exostosis is a bony developmental anomaly, which arises from exophytic outgrowth on bone surfaces in a characteristic manner. Osteochondroma is asymptomatic and grows away from the nearby joint. This paper reports an unusual presentation of osteochondroma in which the patient was surprisingly completely symptomatic. The lesion grew toward the nearby joint and the radiographic findings were not compatible with surgical findings.

Solitary giant neurofibroma of thigh.

Neurofibromas are rare, benign, nerve sheath tumors in the peripheral nervous system. The solitary type is found in those who do not have neurofibromatosis. Solitary neurofibromas are too rare in the giant type. We report a rare case of a solitary giant neurofibroma of the anterior right thigh. The diagnostic criteria, characteristics of imaging studies, and operative approach are represented.

Azygos vein aneurysm as a posterior mediastinal mass discovered after minor chest trauma.

Azygos vein aneurysm is a rare cause of a posterior or paratracheal mediastinal mass. Trauma or conditions causing elevated flow or pressure in the azygos system, such as cardiac failure or cirrhosis of the liver are secondary causes of aneurysm of the azygos vein. We report a case of asymptomatic saccular aneurysm of the azygos vein in a 45-year-old man with blunt minor chest trauma. The azygos vein aneurysm was managed by conservative treatment.

Prevalence of hippocampal morphologic variants between healthy elderly subjects and patients with Alzheimer's disease.

BACKGROUND: Alzheimer's disease (AD) is a neurodegenerative disease with atrophic changes in the temporal lobe. Enlargement of cerebrospinal fluid (CSF) spaces, hippocampal sulcus (HS) enlargement, or an increase in the number or size of hippocampal cavities (HCs) could be associated with medial temporal lobe atrophy (MTA). In this study, we assessed the relation of these CSF spaces with AD. MATERIALS AND METHODS: A total 36 demented patients with diagnosis of Alzheimer (Mini-Mental State Examination (MMSE) ≤25) and 36 non-demented elderly individuals were referred for basic magnetic resonance imaging (MRI) before initiating anti-dementia therapy in the demented group. Two observers assessed the maximal HS width, as well as the occurrence, number, and size of HCs, and the visual rating score of MTA on magnified coronal high-resolution T1-weighted MR images. RESULTS: The findings of our study indicate that the presence of hippocampal cavity (HC) (especially in the left side) and medial temporal lobe atrophy in demented patients was significantly higher in comparison with non-demented elderly subjects (P ≤ 0.05). There was a significant relationship between MTA and HS width (P = 0.003, r = 0.00323), and it also had a trend to be significant with size of HCs (P = 0.08, r = 0.00314). A correlation between MTA and number of HCs was not detected. CONCLUSION: HS width is associated with MTA in patients with AD. It may serve as a measure to evaluate MTA for identifying individuals at particularly high risk for Alzheimer progression, and could be employed for selecting subjects for clinical trials or for treatment decisions.

Magnetic resonance cholangiography compared with endoscopic retrograde cholangiography in the diagnosis of primary sclerosing cholangitis.

BACKGROUND: Magnetic resonance cholangiography (MRC) has gained popularity for diagnosing primary sclerosing cholangitis (PSC). We determined the accuracy of MRC compared with endoscopic retrograde cholangiography (ERC) for diagnosing PSC. MATERIALS AND METHODS: This retrospective case-control study was conducted on patients referred to an outpatient gastroenterology clinic from 2001 to 2013. Patients with established diagnosis of PSC who had undergone MRC and ERC within a 6-month interval were included. Controls were selected from patients who had undergone imaging for reasons other than PSC evaluation. Disease outcome at the study time and liver biochemistry data at diagnosis and 1-year thereafter were retrieved. Diagnostic accuracy of MRC in comparison with ERC was evaluated. RESULTS: A total of 46 definite PSC patients (age at diagnosis = 36.8 ± 11.6 years, 33 male) were found. Diagnostic imaging for PSC was ERC alone in 12, MRC alone in 23, and ERC plus MRC in 11 patients. Controls were 89 patients mostly with bile stones. The sensitivity, specificity, and positive and negative likelihood ratios of MRC was 90.9%, 95.5%, 20.23, and 0.10, respectively. Early PSC was found more frequently by MRC compared with ERC (30.4% vs. 8.3%, P = 0.146). No significant difference was found between imaging modalities with regards to patients' outcome (P = 0.786) or liver biochemistry at diagnosis or 1-year thereafter (P >0.05). CONCLUSION: Starting diagnostic imaging for PSC with MRC seems better and may provide diagnosis of PSC at its earlier phase. Further studies with larger sample of patients and longer follow-ups are warranted.

A rare case of laryngotracheal chondrosarcoma in a patient with past history of radioiodine therapy for thyroid cancer.

Tracheal chondrosarcoma is a rare malignant mesenchymal tumor and there are less than 15 reports in the literature. We report a rare case of laryngotracheal chondrosarcoma in a 74-year-old man. He gave a history of radioiodine therapy for thyroid papillary carcinoma about 24 years ago. Diagnostic steps, histological presentation, and therapy are described in detail.