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Unstable angina (UA) is situated in a spectrum with myocardial infarction (MI) at one end of it and stable angina at the other end. To determine the clinical and paraclinical characteristics of unstable angina this study was designed."nMaterials and Methods: Two hundred patients with definite UA who were hospitalized at cardiac care units (CCU) in Yazd were enrolled in this cross- sectional study. Clinical and para-clinical characteristics including class of severity of angina, clinical circumstances, drugs, risk factors, changes in ECG, and patient's condition at the time of leaving hospital were evaluated."nResults& Conclusions: The average of age of patients was 61.85 years and 57% of them were female and 43% were male. The most prevalent risk factor among men was smoking (48.8%) and among women was hypertension (62.8%). According to Braunwald suggestion, patients were divided into 3 classes based on the severity of their diseases. Frequency distribution of patients in classes I,H and III were 24.5%, 4% and 71.5%, respectively. Normal ECG, was observed in 24.5% of subjects at the time of hospitalization and in 67% of patients when leaving hospitals. Frequency distribution based on the risk stratification was 22.5%, 58.5% and 19% in the low, medium and high risk groups, respectively. During hospitalization, acute myocardial infarction (AMI) was seen in 3.5% of individuals that majority of them belonged to class III of angina.

Background Histologically confirmed meningiomas in first year of life are quite rare. However, review of the sporadic cases in the literature reported meningioma in infants. Those have unique features in common. Case presentation An 11 month-old Iranian male infant presented with a several weeks history of decrease in movement of his right sided upper and lower extremities. Brain MRI revealed a large well-defined extra axial, Dural-based mass lesion, which is contained solid and cystic components. It is originated from falx, and showed intense contrast enhancement. The patient underwent a central craniotomy. The mass was removed sub totally. Microscopic examination of the specimen revealed a meningioma. Radiotherapy was deferred because of the young age. Patient follow up at 4 months later showed that the child was well. Conclusion Pediatric meningiomas show a higher frequency of cyst formation in compared with adult meningiomas. In addition, they show more frequent sarcomatous changes, which is male predominance. Absence of dural based attachment and higher incidence of intraventricular location were seen. [ABSTRACT FROM AUTHOR]

Background: Acute lymphoblastic leukemia is the predominant neoplastic ailment in childhood. Prior research has already established noteworthy connections between CDKN2A polymorphisms and susceptibility to this childhood leukemia, however, substantial associations are still awaiting validation. This investigation was undertaken to examine the correlation between CDKN2A polymorphisms and the risk of acute lymphoblastic leukemia in children., Methods: Acquisition of information encompassed the exploration of diverse databases including PubMed, Scopus, EMBASE, and China National Knowledge Infrastructure (CNKI) until January 10, 2024. An estimation of associations was achieved utilizing odds ratios with 95% confidence intervals., Results: A total of 22 case-control studies encompassing 10,203 cases of acute lymphoblastic leukemia and 36,424 healthy controls were included. Within this pool of studies, 14 focused on rs3731217, comprising 5396 cases and 15,787 controls, whereas eight studies investigated rs3731249, comprising 4807 cases and 20,637 controls. The aggregated data showed that the rs3731217 variant offers protection against acute lymphoblastic leukemia. Nevertheless, when subgroups are analyzed according to ethnicity, it becomes clear that the rs3731217 polymorphism significantly influences susceptibility, particularly among individuals of Caucasian and African descent with no such association being observed in children of Asian origin. Nevertheless, the rs3731249 polymorphism displayed a noteworthy correlation with vulnerability to pediatric acute lymphoblastic leukemia., Conclusion: The aggregated data revealed that the rs3731217 variation offers protection against the development of pediatric acute lymphoblastic leukemia and the rs3731249 polymorphism is significantly correlated with susceptibility., Competing Interests: Conflicts of interest The authors declare that they have no conflict of interest., (Copyright © 2024 Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier España, S.L.U. All rights reserved.)

Objective: This meta-analysis aims to clarify the association between the TNF-α -308G > A and - 238G > A polymorphisms and lung cancer risk., Method: A comprehensive search was conducted for relevant articles across databases such as PubMed, Google Scholar, Web of Science, EMBASE, and CNKI, up to September 25, 2023. Lung cancer risk was assessed by calculating odds ratios (ORs) and their 95% confidence intervals (CIs). The Z-test was used to determine the significance of combined ORs, with P < 0.05 considered statistically significant. All analyses were performed using Comprehensive Meta-Analysis (CMA) 2.0 software., Results: The analysis included 19 case-control studies with 3,838 cases and 5,306 controls for the TNF-α -308G > A polymorphism, along with 10 studies comprising 2,427 cases and 2,357 controls for the - 238G > A polymorphism. The - 308G > A polymorphism showed no significant overall relationships, though in the Asian subgroup, the A allele was significantly reduced compared to G (OR: 0.831, p = 0.028) and the AA genotype showed significant reductions versus GG (OR: 0.571, p = 0.021), with no significant correlation in Caucasians. In non-small cell lung cancer (NSCLC), the A allele was associated with increased risk compared to G (OR: 1.131, p = 0.049). For the - 238G > A polymorphism, the AA genotype significantly increased risk compared to GG (OR: 3.171, p = 0.014), while showing a protective effect in Caucasians (OR: 0.120, p = 0.024) and a heightened risk in Asians (OR: 7.990, p = 0.007). In small cell lung cancer (SCLC), the A allele conferred protective effects, whereas NSCLC showed increased risk for the AA genotype (OR: 11.375, p = 0.002)., Conclusion: The - 308G > A polymorphism has no significant overall relationships but suggests a protective role of the A allele in the Asian subgroup. Conversely, the - 238G > A polymorphism presents a complex risk profile, increasing lung cancer likelihood in Asians while protecting Caucasians. Notably, the AA genotype significantly raises risk for NSCLC, indicating its potential as a risk factor., (© 2024. The Author(s).)

Background: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a prevalent craniofacial birth defect on a global scale. A number of candidate genes have been identified as having an impact on NSCL/P. However, the association between interferon regulatory factor 6 (IRF6) polymorphisms and NSCL/P has yielded inconsistent results, prompting the need for a meta-analysis to obtain more accurate estimates., Methods: We conducted a thorough screening of all relevant articles published up until November 15, 2023, in online bibliographic databases. The statistical analysis of the collected data was performed using the Comprehensive Meta-Analysis (Version 4.0) software., Results: A total of 79 case-control studies, comprising 14,003 cases and 19,905 controls, were included in our analysis. The combined data indicated that the IRF6 rs642961 and rs2235371 polymorphisms were associated with an increased risk of NSCL/P in the overall population. However, no significant association was found between the rs2013162 and rs2235375 polymorphisms and the risk of NSCL/P in the overall population. Furthermore, subgroup analyses revealed significant correlations between the IRF6 rs642961, rs2235371, and rs2235375 polymorphisms and the risk of NSCL/P based on ethnic background and country of origin. Nevertheless, the rs2013162 polymorphism plays a protective role in Caucasians and mixed populations., Conclusions: Our collective data indicates a significant association between the rs642961 and rs2235371 polymorphisms and the risk of NSCL/P in the overall population. The rs2235375 polymorphism could influence the susceptibility to NSCL/P based on ethnic background. Meanwhile, the rs2013162 polymorphism provides protective effects in Caucasian, mixed populations, and the Brazilian population., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Masson SAS. All rights reserved.)

This case report presents a 10-year-old patient diagnosed with pheochromocytoma/paraganglioma syndrome type 1 (PPGL1), underlined by a novel heterozygous pathogenic variant (c.154&#95;161del, p.ser52Profster14) in the SDHD gene. Initially, the patient manifested symptoms unusual for pheochromocytoma, including polyuria and polydipsia; however, further diagnostic investigations revealed a pheochromocytoma (PCC) tumor in the adrenal gland. Subsequently, whole exome sequencing (WES) test identified a pathogenic frameshift variant in the SDHD gene, strongly suggestive of PPGL1. This study highlights the importance of considering atypical symptoms in diagnosing rare pediatric pheochromocytoma/paraganglioma tumors and underscores the value of genetic testing in identifying underlying genetic causes, thereby facilitating personalized management of the condition., (© 2024 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.)

Background: The study aimed to investigate the association of IL-6 and IL-10 polymorphisms with susceptibility to glaucoma by analyzing all relevant individual studies., Materials and Methods: Relevant articles were gathered from PubMed, Web of Science, Embase, WanFang, and CNKI databases up to 15 October 2023. Odds ratios (ORs) were used to evaluate the association strengths, along with 95% confidence intervals (CIs)., Results: Seven case-control studies involving 1408 cases and 1789 controls on the IL-6 -174 G>C polymorphism, and three studies with 675 cases and 1100 controls on the IL-6 -572 G>C were included. Moreover, three separate studies, each comprising 442 cases and 672 controls, investigated the IL-10 -592C>A, -819T>C, and -1082A>G polymorphisms. The combined data indicated a significant association between -592C>A, -819T>C, and -1082A>G at IL-10 gene and IL-6 -572 G>C with glaucoma susceptibility, with no correlation found for IL-6 -174 G>C., Conclusions: The study found that IL-10 -592C>A, -819T>C, -1082A>G, and IL-6 -572 G>C polymorphisms were linked to glaucoma risk. However, no significant association was observed for IL-6 -174 G>C. These findings imply a possible connection between genetic variations in these genes and glaucoma risk. Further research is crucial to fully understand the underlying mechanisms and their significance in managing and preventing glaucoma.

The Hardy-Weinberg Equilibrium (HWE) is a fundamental principle employed in the analysis of genetic data, encompassing studies of meta-analysis and genomic sequencing. It has been demonstrated that HWE possesses the property of transitivity, wherein a multi-allelic polymorphism in equilibrium will persist in its equilibrium state even when alleles are deleted or combined. Nonetheless, the practice of filtering loci that do not adhere to HWE has been observed to impact the inference of population genetics within RADseq datasets. In response to this concern, the Robust Unified Test for HWE (RUTH) has been devised to consider population structure and genotype uncertainty, thereby offering a more precise evaluation of the quality of genotype data. Furthermore, deviations from HWE, such as extreme heterozygote excess, can be effectively utilized to identify genotyping errors or to pinpoint the presence of rare recessive disease-causing variants. In summary, it is evident that HWE holds immense significance in the field of genetic analysis, and its application in meta-analysis studies and genomic sequencing can yield invaluable insights into the intricacies of population structure and the genetics of diseases.

Osteoarthritis (OA) arises from a intricate interplay of genetic and environmental factors. Numerous studies have explored the link between the growth differentiation factor 5 (GDF-5) +104T>C polymorphism and OA risk, but the findings have been inconclusive. We carried out a case-control study with 704 OA cases and 418 healthy controls. Furthermore, we conducted a meta-analysis by thoroughly searching the literature for relevant studies published until 1 September, 2023. The combined odds ratio and 95% confidence intervals were used to assess the correlation's strength. A total of 47 independent case-control studies, including 17,602 OA cases and 30,947 controls, were analyzed. Of these, 31 studies (11,176 cases, 16,724 controls) focused on knee OA, 8 studies (3,973 cases, 8,055 controls) examined hip OA, and 6 studies (2244 cases, 5965 controls) investigated hand OA. Overall, our findings suggest that the GDF-5 + 104T>C polymorphism has a protectibe role in development of OA in global scale. Subgroup analyses by ethnicity indicated that this genetic variation provides protection against OA in Caucasian, Asian, and African populations. Further subgroup analysis based on the type of OA showed a decreased risk of knee and hand OA associated with this variation, but not for hip OA. Our combined data indicates that the GDF-5 + 104T>C polymorphism offers protection against the development of OA in general, as well as knee and hand OA. Nevertheless, there was no correlation found between this polymorphism and the development of hip OA.

Purpose: The genetic aspect of gestational diabetes mellitus (GDM) is influenced by multiple causal genetic variants, each with different effect sizes. The KCNJ11 gene is particularly noteworthy as a potential contributor to the risk of GDM due to its role in regulating glucose-induced insulin secretion. To evaluate the association between KCNJ11 polymorphisms and GDM, a comprehensive meta-analysis was conducted to review the existing literature and quantitatively assess the correlation., Methods: A thorough search was performed on the PubMed, EMBASE, Scopus, and CNKI databases until December 25, 2023, using precise terms and keywords related to Gestational Diabetes, KCNJ11 gene, and polymorphism. Odds ratios and 95% confidence intervals were used to evaluate the relationships. The statistical analysis was conducted using Comprehensive Meta-Analysis software, and the Cochrane risk of bias assessment tool was used to determine bias presence., Results: The meta-analysis comprised 9 studies with 3108 GDM cases and 5374 controls for the rs5219 polymorphism, and 3 studies with 1209 GDM cases and 1438 controls for the rs5210 polymorphism. The pooled data indicated a noteworthy link between the rs5219 polymorphism and GDM globally and among various ethnic groups, notably in Caucasian and Asian populations. However, no substantial association was observed between the rs5210 polymorphism and GDM., Conclusions: Pooled data showed a correlation between the KCNJ11 rs5219 polymorphism and GDM susceptibility, but no association was found for the rs5210 polymorphism. Future research with larger sample sizes and more diverse populations is needed to improve result generalizability., Supplementary Information: The online version contains supplementary material available at 10.1007/s40200-024-01428-0., Competing Interests: Conflict of interestThe authors declare that they have no conflict of interest., (© The Author(s), under exclusive licence to Tehran University of Medical Sciences 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.)

Background: Cervical cancer, globally, ranks as the runner-up among the most prevalent forms of cancer affecting women. The role of the tumor necrosis factor alpha (TNF-α) polymorphism in the susceptibility to cervical cancer has been a subject of interest. However, the current evidence regarding this association remains inconclusive., Methods: To address this uncertainty, eligible studies were systematically searched and retrieved from various databases including Cochrane Library, EMBASE, PubMed, Web of Science, CNKI, and Wanfang database. The search was conducted until September 01, 2023. The collected literature was then subjected to independent analysis by two authors. The pooled odds ratio along with the corresponding 95% confidence interval was calculated using different genetic models. Additionally, sensitivity and cumulative analyses were performed to assess the stability of the obtained results., Results: A total of 29 case-control studies involving 8850 cases and 9286 controls were included in the present analysis. The findings revealed that the TNF-α rs1800629 polymorphism increased the risk of cervical cancer under the allele genetic model (A vs. G: OR = 1.277, 95% CI = 1.104-1.477, P = 0.001) in the general population. Subgroup analysis based on ethnicity demonstrated that this polymorphism was associated with an increased risk of cervical cancer in Caucasian and African women, but not in Asians. Furthermore, subgroup analysis based on country of origin indicated a significant correlation between the TNF-α rs1800629 polymorphism and an increased risk of cervical cancer in American and Chinese women, but not in Iranian women., Conclusions: The findings from this meta-analysis suggest that the TNF-α rs1800629 polymorphism is a risk factor for cervical cancer in the general population, particularly in Caucasian and African women. However, further well-designed studies are warranted to validate these findings.

Studies on the CXCL12 rs1801157 polymorphism show that this polymorphism is involved in development of breast cancer, but its specific relationships or effects are not consistent. The purpose of this meta-analysis was to investigate the association between CXCL12 rs1801157 polymorphism and susceptibility to breast cancer. PubMed, Scopus, Embase, the Cochrane Library, Web of Science, and CNKI were searched for eligible studies through February 01, 2023. A total of ten studies with 2093 cases and 2302 controls were included in this meta-analysis. Overall, there is a significant association between CXCL12 rs1801157 polymorphism and risk of breast cancer under the homozygote genetic model (AA vs. GG, OR= 1.350, 95% CI: 1.050-1.734, p= 0.019). Stratified by ethnicity showed a significant association in Caucasian women, but not among Asian and mixed populations. This meta-analysis confirms that CXCL12 rs1801157 polymorphism is related to breast cancer risk, especially among Caucasian women. However, well-designed large-scale studies are required to further evaluate the results.

Background: Growing studies revealed the association between polymorphisms in Tumor Protein TP73 (TP73) and susceptibility to cancer, especially with gynecological cancers. but, the results remained inconsistent. This meta-analysis was carried out to examine the relationship of the TP73 G4C14-to-A4T14 polymorphism (hereafter, G4C14-to-A4T14) with susceptibility to cervical cancer globally and by ethnicity., Methods: Eligible studies were collected by retrieving PubMed, Scopus, Web of Science, Embase, Wan Fang, and CNKI published before 25 October, 2023. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of such association., Results: A total of 10 case-control studies with 1804 cervical cancer cases and 2433 healthy controls were included to this study. The pooled results showed that TP73 G4C14-to-A4T14 polymorphism was not associated with cervical cancer risk in overall. in terms of stratified analyses by ethnicity, this polymorphism was not associated with risk of cervical cancer among East-Asian women. however,  there was a significant association based source of control among hospital-based studies., Conclusions: Inconsistent with previous meta-analyses, our pooled results revealed that TP73 G4C14-to-A4T14 polymorphism might not be a risk factor for development of cervical cancer globally and among East-Asian women. Moreover, further studies examining the effect of gene-gene and gene-environment interactions may eventually provide a better knowledge.

Breast cancer is one of the most common cancers in the world and leading cause of cancer-related death among women. Several studies indicated that Arg188His (rs3218536) polymorphism of X-ray repair cross-complementing 2 (XRCC2) may be associated with breast cancer risk. However, this association remains ambiguous. Thus, we performed a meta-analysis to provide more precise conclusion on this issue. A comprehensive search in PubMed, Google Scholar and ISI Web of Science was performed to select all relevant studies. Odds ratios (OR) with corresponding 95% confidence intervals (CI) were applied to assess the strength of the relationships. A total of 17 studies with 5694 breast cancer cases and 6450 healthy subjects were identified. The pooled data revealed that XRCC2 Arg188His polymorphism was marginally with susceptibility to breast cancer globally under the heterozygote contrast (OR = 0.929, 95% CI = 0.873-0.987, p=0.018). Moreover, subgroup analysis by ethnicity revealed that this polymorphism was associated with breast cancer risk among Caucasians. On the whole, the present study demonstrates that the XRCC2 Arg188His polymorphism may contribute to an increased risk of breast cancer.

Background: The tumorigenesis of lung cancer is complicated, and genetic factor may have the role in the malignant transformation of lung cells. IL-10 gene polymorphisms have been evaluated for their potential roles in lung cancer. However, those studies results are controversial. To clarify the effects of IL-10 rs1800871, rs1800872 and rs1800896 polymorphisms on the risk of lung cancer, a meta-analysis was performed with eligible individual studies., Methods: Eligible publications were gathered by retrieving PubMed, Web of Science, Embase, Wan Fang, and CNKI up to September 01, 2023. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of such association., Results: A total of 23 studies, including 5950 patients with lung cancer and 8046 healthy controls, were identified in this meta-analysis.  Overall, there was no a significant association between the rs1800871, rs1800872 and rs1800896 polymorphisms at IL-10 gene and susceptibility to lung cancer globally when all studies in the pooled into this meta-analysis. Stratified analysis by ethnicity showed that rs1800872 polymorphism was associated with lung cancer among Asians and Caucasians. However, no significant association was identified between the rs1800871 and rs1800896 and risk of lung cancer., Conclusions: Pooled data showed that  IL-10 rs1800871, rs1800872 and rs1800896 polymorphisms were not associated with lung cancer globally. Future well-designed large case-control studies with different ethnicities are recommended.

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., Competing Interests: Conflito de Interesses Os autores declaram não haver conflito de interesses.

Introduction: Many published studies have estimated the association of rs2435357 and rs1800858 polymorphisms in the proto-oncogene rearranged during transfection (RET) gene with Hirschsprung disease (HSCR) risk. However, the results remain inconsistent and controversial., Aim: To perform a meta-analysis get a more accurate estimation of the association of rs2435357 and rs1800858 polymorphisms in the RET proto-oncogene with HSCR risk., Methods: The eligible literatures were searched by PubMed, Google Scholar, EMBASE, and Chinese National Knowledge Infrastructure (CNKI) up to June 30, 2018. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the susceptibility to HSCR., Results: A total of 20 studies, including ten (1,136 cases 2,420 controls) for rs2435357 and ten (917 cases 1,159 controls) for rs1800858 were included. The overall results indicated that the rs2435357 (allele model: OR=0.230, 95% CI 0.178-0.298, p=0.001; homozygote model: OR=0.079, 95% CI 0.048-0.130, p=0.001; heterozygote model: OR=0.149, 95% CI 0.048-0.130, p=0.001; dominant model: OR=0.132, 95% CI 0.098-0.179, p=0.001; and recessive model: OR=0.239, 95% CI 0.161-0.353, p=0.001) and rs1800858 (allele model: OR=5.594, 95% CI 3.653-8.877, p=0.001; homozygote model: OR=8.453, 95% CI 3.783-18.890, p=0.001; dominant model: OR=3.469, 95% CI 1.881-6.396, p=0.001; and recessive model: OR=6.120, 95% CI 3.608-10.381, p=0.001) polymorphisms were associated with the increased risk of HSCR in overall., Conclusions: The results suggest that the rs2435357 and rs1800858 polymorphisms in the RET proto-oncogene might be associated with HSCR risk.

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.

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., (Creative Commons Attribution License)

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.

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.

Introduction: A series of studies have evaluated the association between -592A>C and -819T>C polymorphisms in the promoter regions of Interleukin-10 (IL-10) and gastric cancer (GC) risk. However, the results remain inconclusive., Objective: To better understand the association of the polymorphisms with GC risk, we performed a comprehensive meta-analysis., Method: An electronic search was performed of several databases to identify relevant studies up to April 2018., Results: A total of 44 case-control studies, including 26 studies on IL-10 -592A>C (5,332 cases and 8,272 controls) and 18 studies on IL-10 -819T>C (3,431 cases and 6,109 controls) were selected. Overall, -592A>C polymorphism was associated with the risk of GC under the heterozygote model (OR=1.153, 95% CI=1.020-1.305, p=0.023), but not -819T>C polymorphism. When stratified by ethnicity, significant association was only observed in the Asians under the allele model (OR=1.153, 95% CI=1.007-1.320, p=0.040) and the heterozygote model (OR=1.218, 95% CI=1.076-1.379, p=0.002) for -592A>C., Conclusion: The current meta-analysis results inconsistent with previous meta-analyses; showed that the IL-10 -592A>C polymorphism, but not -819T>C polymorphism, may be contributed to the susceptibility of GC in overall and Asian populations.

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., (Creative Commons Attribution License)

Background: The Plasminogen Activator Inhibitor-1 gene 4G/5G (PAI-1 4G/5G) polymorphism has been suggested to be associated with osteonecrosis of the femoral head (ONFH) susceptibility; however, the results are conflicting and inconclusive. We have carried out a comprehensive meta-analysis to derive a more precise estimation of the association., Methods: A comprehensive search in PubMed, EMBASE, Google Scholar, and ISI Web of Knowledge databases was conducted to identify all eligible case-control publications investigating the association between PAI-1 4G/5G polymorphism and ONFH risk. Odds ratios (OR) and corresponding 95% confidence intervals (CI) were used to assess the association., Results: A total of six studies with 456 cases and 1,019 controls were included in this review. Three studies were from Caucasian descendants and the three others were from East Asian descendants. Overall analysis suggests a significant association between PAI-1 4G/5G polymorphism and ONFH risk under the allele model (4G vs. 5G: OR =1.540, 95% CI =1.055-2.248, P=0.025 ) and the recessive model (4G4G vs. 4G5G+5G5G: OR=1.931, 95% CI: 1.162-3.207, P=0.011 ). When stratified by ethnicity, we have found a significant association between PAI-1 4G/5G polymorphism and ONFH risk among the Caucasian (4G5G vs. 5G5G: OR=1.806, 95% CI: 1.064-3.067, P=0.029 ) and East Asians (4G4G vs. 5G5G: OR=1.619, 95% CI: 1.025-2.556, P=0.039 and 4G4G vs. 4G5G+5G5G: OR=1.665, 95% CI: 1.207-2.297, P=0.002 )., Conclusion: The present meta-analysis suggested that PAI-1 4G/5G (rs1799889) polymorphism is a potential risk factor for development of ONFH. However, large-scale and well-designed case-control studies in different ethnicities are required to validate these results.

Objective: The aim of this study was to assess the association of MTHFR and TNF-α genes polymorphisms with Legg-Calvé-Perthes' disease (LCPD) risk in the Iranian children., Methods: A total of 45 children with LCPD and 55 healthy controls were recruited to the study. Genotyping was performed via the RFLP-PCR method and genetic risk was calculated by odds ratio (OR) with its corresponding 95% confidence interval (CI)., Results & Conclusion: Our case-control study failed to determine any association of MTHFR (677C > T and 1298A > C) and TNF-α (-308G > A and -238G > A) polymorphisms with LCPD risk. More studies with larger sample size are warranted to validate our findings.

Objective: To assess the association of GDF-5 rs143383 polymorphism with radiographic defined knee osteoarthritis (OA), a systematic review and meta-analysis was conducted., Methods: A total of 17 relevant case-control studies with 7424 cases and 11,310 controls was collected from several electronic databases up to June 2018., Results: The pooled results showed that GDF-5 rs143383 polymorphism was significantly associated with radiographic defined knee OA in overall and stratified analysis by ethnicity, source of controls and genotyping techniques., Conclusions: The GDF-5 rs143383 polymorphism might be used as a relevant risk estimate for radiographic defined Knee OA.

Background: Several epidemiological studies have investigated the association of promoter region polymorphisms of Interleukin-10 (IL-10) gene with colorectal cancer (CRC), while the conclusion is still conflicting and inconclusive., Objective: We conducted this meta-analysis to evaluate the association of promoter region polymorphisms of IL-10 with CRC., Methods: Eligible articles were identified by a search of several bibliographic databases for the period up to March 15, 2018. The strength of the association was measured by odd ratios with 95% confidence intervals., Results: A total of 28 case-control studies with 5,647 CRC cases and 6,908 controls were selected, including 14 studies for IL-10 -1082A>G (rs1800896) polymorphism (2,702 cases and 3,649 controls), eleven studies for -592C>A (rs1800872) polymorphism (3,259 cases and 4,992 controls), and three studies for -819T>C (rs1800871) polymorphism (477 cases and 544 controls). By pooling all eligible studies, we found that the IL-10 -1082A>G and -592C>A polymorphisms were not associated with increased CRC risk in overall population. However, there was significant associations between the IL-10 -819T>C polymorphism and CRC susceptibility under the allele model (A vs G: OR=1.278, 95% CI 1.043-1.566, P=0.018) and the recessive model (AA vs AG+GG: OR=1.709, 95% CI 1.026-2.845, P=0.039)., Conclusion: In this meta-analysis we found that IL-10 -819T>C polymorphism was associated with significantly increased risk of CRC; while the IL-10 -1082A>G and -592C>A polymorphisms were not associated with CRC risk. The IL-10 -819T>C polymorphism may be important as suspected predictive factor of CRC occurrence.

Objective: A comprehensive search on electronic databases was conducted to identify all eligible studies of TNF-α polymorphisms and knee osteoarthritis (OA)., Methods: Eight studies on TNF-α -308 G > A and three on TNF-α -238G > A polymorphism were identified., Results: Overall, the pooled ORs indicated that neither TNF-α -238G > A nor -238G > A polymorphism was associated with knee OA risk. Similarly, in the stratified analysis by ethnicity, no significant association was found., Conclusion: This meta-analysis results inconsistent with the previous meta-analyses showed that the TNF-α -308 G > A and -238G > A polymorphisms may not be associated with the susceptibility to knee OA.