The objective of this study was to elucidate the relationship between two single nucleotide polymorphisms (SNPs) rs7176005 and rs6493497 in CYP19 gene and the risk of polycystic ovary syndrome (PCOS) in Northern Chinese women. In this case-control study, a total of 340 women with PCOS and 340 matched healthy controls were recruited. Polymerase chain reaction ligase detection reaction (PCR-LDR) method was used to investigate two SNPs (rs7176005 and rs6493497) in the 5’-flanking region of CYP19 gene exon 1. We observed a significant association of rs7176005 and rs6493497 with reduced risk of PCOS. Compared with CC genotype, a significant association of CT genotype (p = 0.019), TT genotype (p < 0.001) and combined CT + TT genotype (p < 0.001) with reduced risk of PCOS was observed. The result of linkage disequilibrium analysis showed that these two SNPs are in complete linkage disequilibrium (r2 = 1). For rs7176005 SNP, compared with CC genotype, CT, TT and CT + TT genotypes reduced the risk of PCOS. The age, BMI-adjusted OR were 0.650 (95

Boron neutron capture therapy (BNCT), as an emerging binary treatment method, has shown the advantage of effectively treating tumors while sparing normal tissues, utilizing the characteristics of boron’s nuclear capture and fission reactions, as well as the distinct distribution of boron delivery agents in tumor tissues and healthy tissues. Currently, numerous boron delivery agents have been developed to improve their targeting property, biocompatibility, solubility, and nuclear localization capability. The shift of neutron source from being based on nuclear reactors to being based on accelerators facilitates the conduct of clinical trials. BNCT has demonstrated promising results in treating head and neck cancers, gliomas, and skin melanomas. In addition, researches on the application of BNCT have been carried out in other tumors, such as liver cancer, lung cancer, and breast cancer. Notably, in 2020, BNCT was approved for clinical use in the treatment of unresectable locally advanced or locally recurrent head and neck cancer. Subsequently, post-marketing surveillance confirmed its safety and efficacy. Despite the progress made, BNCT still encounters substantial challenges in enhancing its efficacy. This review provides a comprehensive synthesis of the literature on BNCT over the last decade. It systematically examines the treatment’s mechanism of action, the landscape of clinical research, key markers and factors influencing therapeutic efficacy, and the primary challenges and future directions for the field. The development of BNCT is impeded by several significant challenges, including the research and development of boron delivery agents, the construction of neutron sources, the management of tumor heterogeneity, the advancement of clinical translation, and the securement of economic and logistical support. These challenges can only be systematically overcome through the organic integration of technological innovation, policy support, clinical standardization, and cross-disciplinary collaboration, thereby creating a synergistic effect.

Artesunate (ART), an antimalarial drug, has a broad spectrum of antitumour effects in cancer types such as esophageal and gastric cancer. However, evidence demonstrating the role of ART in cervical cancer cells is limited. In the present study, the inhibitory effect of ART on the growth of cervical cancer cells through the modulation of the cell cycle and apoptosis was investigated. The growth-inhibitory effect of ART on a cervical cancer cell line (SiHa) was detected using a Cell Counting Kit-8 assay after treatment with ART for 24 h, after which the half-maximal inhibitory concentration (IC50) was calculated. Using flow cytometry assays, apoptosis, the cell cycle, the levels of reactive oxygen species (ROS) and calcium (Ca2+) ions, as well as the mitochondrial membrane potential were evaluated in SiHa cells following treatment with ART for 24 and 48 h. The mRNA expression levels of Bcl2, Bcl-xl, (myeloid cell leukaemia 1) Mcl-1, Bcl2-like protein 11 (BIM), (Bcl2-related ovarian killer protein) Bok, Bax and (Bcl2 homologous antagonist/killer) Bak in SiHa cells were detected using reverse transcription-quantitative PCR. ART inhibited the growth of SiHa cells in a dose-dependent manner. The IC50 of ART in SiHa cells was 26.32 mu g/ml. According to the IC50 value, 15, 30 and 100 mu g/ml ART were selected for further experiments, and normal saline (0 mu g/ml ART) was used as the control group. The results indicated that treatment with 15, 30 and 100 mu g/ml ART for 24 and 48 h induced apoptosis, increased the levels of ROS, the levels of Ca2+ and the mRNA expression levels of BIM, Bok, Bax and Bak, but decreased the cell proliferation indices, the mitochondrial membrane potential and the mRNA expression levels of Bcl2, Bcl-xl and Mcl-1 in a dose- and time-dependent manner. In conclusion, ART inhibited the growth of SiHa cells and induced apoptosis via a mechanism associated with the regulation of Bcl2 family member expression, which was associated with the increase of the levels of ROS and Ca2+ and the reduction of the mitochondrial membrane potential.

Background: Ataxia telangiectasia mutated (ATM), an apical DNA damage response gene, is a commonly mutated gene in tumors, and its mutation could strengthen tumor immunogenicity and alter the expression of PD-L1, which potentially contributes to immune checkpoint inhibitors (ICIs) therapy. Methods: The characteristics of ATM mutation and its relationship with the ICIs-treated clinical prognosis have been analyzed comprehensively in this paper. The overall frequency of ATM mutations has been found to be 4% (554/10953) in the cancer genome atlas (TCGA) cohort. Results: Both the TMB and MSI levels in patients with ATM mutations were significantly higher than those in patients without mutations (P < 0.0001). The median TMB was positively correlated with the frequency of ATM mutations (r = 0.54, P = 0.003). In the TCGA cohort, patients with ATM mutations had better clinical benefits in terms of overall survival (OS, hazard ratio (HR) = 0.736, 95% CI = 0.623 - 0.869), progression-free survival (PFS, HR = 0.761, 95% CI = 0.652 - 0.889), and disease-free survival (DFS, HR = 0.686, 95% CI = 0.512 - 0.919)] than patients without ATM mutations. Subsequently, the verification results showed ATM mutations to be significantly correlated with longer OS in ICIs-treated patients (HR = 0.710, 95% CI = 0.544 - 0.928). Further exploration indicated ATM mutation to be significantly associated with regulated anti-tumor immunity (P < 0.05). Conclusion: Our findings highlight the value of ATM mutation as a promising biomarker to predict ICIs therapy in multiple tumors.

We aimed to explore the effect of CD39 expression on CD8+ T cells and on the diagnosis and prognosis of esophageal squamous cell carcinoma (ESCC). The independent prognostic factors for the surgical specimens of the 95 ESCC patients were screened by multivariate Cox regression analysis. Differential gene expression analysis was performed by the NetworkAnalyst platform based on data from the Gene Expression Omnibus (GEO). The expression of CD39 on CD8+ T cells in the CK+ region was higher in cancer tissue than in paracancerous tissue (p = 0.011), and high CD39-expressing CD8+ T cells in the CK+ region (HR, 2.587; p = 0.033) and high CD39-expressing CD8+ T cells in the CK- region (HR, 3.090; p = 0.008) were independent risk factors for prognosis in ESCC patients; the expression of ENTPD1 was upregulated in ESCC tissues compared to normal tissues (adjusted p < 0.001; log2 fold change = 1.99), and its expression was significantly positively correlated with the expression of PDCD1, CTLA4, and HAVCR2. High CD39-expressing CD8+ T cells can be used as a new molecular marker for the diagnosis and prognosis of ESCC, and the restoration of partially exhausted CD8+ T cells by inhibiting CD39 may be a new strategy for treating ESCC.

AIM:The mouse double minute 4 (MDM4) may contribute to tumorgenesis by inhibiting p53 tumor suppressor activity. This study was designed to investigate whether MDM4 polymorphisms could affect susceptibility to esophageal squamous cell carcinoma (ESCC) and the survival of ESCC patients in a population from Cixian high-incidence region of northern China, which has not been explored.METHODS:MDM4 rs1380576 and rs4245739 were genotyped by polymerase chain reaction-ligase detection reaction (PCR-LDR) in 568 ESCC patients and 578 controls.RESULTS:Compared to rs1380576 C/C genotype, C/G genotype was associated with decreased risk of ESCC (odds ratio [OR] = 0.761, 95% confidence interval [CI] = 0.595-0.973). Compared to rs4245739 A/A genotype, A/C or C/C genotype was related to increased susceptibility to ESCC (OR = 1.551, 95% CI = 1.001-2.402). Individuals with GC haplotype had significantly higher risk of ESCC than those with CA or GA haplotype (OR = 1.598, 95% CI = 1.048-2.438). Neither rs1380576 nor rs4245739 influenced the survival of ESCC patients.CONCLUSION:rs1380576 and rs4245739 may be used to predict susceptibility to ESCC for population in Cixian high-incidence region.

目的 探讨血管内皮生长因子基因(vascular endothelial growth factor gene,VEGF)rs699947 和rs1570360 的单核苷酸多态性(single nucleotide polymorphism,SNP)与多囊卵巢综合征(polycystic ovary syndrome,PCOS)发病风险之间的关系.方法 运用了聚合酶链反应-连接酶检测反应(polymerase chain reaction-ligase detection reaction,PCR-LDR)的方法共分析PCOS患者152例和健康对照者160例VEGF基因rs699947和rs1570360的单核苷酸多态性和PCOS发病风险之间的关联.结果 与AA基因型相比,携带CC基因型可能增加了 PCOS的发病风险,控制了年龄和肥胖家族史等因素后的OR值为2.896(95％CI=1.388～6.043).结论 VEGF基因rs699947增加了北方妇女对PCOS的遗传易感性,携带CC基因型增加了 PCOS的发病风险.

N6-methyladenosine (m6A) modification, the most prevalent RNA modification, is involved in all aspects of RNA metabolism, including RNA processing, nuclear export, stability, translation and degradation. Therefore, m6A modification can participate in various physiological functions, such as tissue development, heat shock response, DNA damage response, circadian clock control and even in carcinogenesis through regulating the expression or structure of the gene. The deposition, removal and recognition of m6A are carried out by methyltransferases, demethylases and m6A RNA binding proteins, respectively. Aberrant m6A modification and the dysregulation of m6A regulators play critical roles in the occurrence and development of various cancers. The pathogenesis of esophageal cancer (ESCA) remains unclear and the five-year survival rate of advanced ESCA patients is still dismal. Here, we systematically reviewed the recent studies of m6A modification and m6A regulators in ESCA and comprehensively analyzed the role and possible mechanism of m6A modification and m6A regulators in the occurrence, progression, remedy and prognosis of ESCA. Defining the effect of m6A modification and m6A regulators in ESCA might be helpful for determining the pathogenesis of ESCA and providing some ideas for an early diagnosis, individualized treatment and improved prognosis of ESCA patients.

N6‑methyladenosine (m6A), the most abundant RNA modification, can participate in various physiological functions and pathological processes by regulating the expression or structure of genes due to its involvement in all aspects of RNA metabolism. Thus, the genetic variant that influences m6A, such as m6A‑associated single nucleotide polymorphism (m6A‑SNP), which is in close proximity to or in the methylation site, may be related to various pathological processes by increasing or decreasing the m6A methylation level due to the alteration of the nucleotide. The present review summarizes the recent advances made in m6A‑SNPs. Both the mining of genome‑wide association studies and the combined analysis of the m6Avar database with expression quantitative trait loci datasets have identified functional variants and causal genes associated with various diseases and have provided new direction for future studies on disease pathogenesis. In particular, some studies have indicated that base change in m6A‑SNPs lead to alterations in m6A modification levels, a conversion from genetics to epigenetics, and the expression variation of corresponding genes, which may affect the biological behavior of cells and explain the association of m6A‑SNPs with the risk or prognosis of diseases. In bladder cancer, colorectal cancer, coeliac disease, and pancreatic ductal adenocarcinoma, the overexpression of a specific allele alone can significantly modify the function of corresponding genes. On the whole, m6A‑SNPs play a pivotal role in all stages of diseases. In the future, the identification of m6A‑SNPs as disease biomarkers and ascertaining the functions of these m6A‑SNPs may prove beneficial. This would help to identify susceptible individuals in a timely manner and clarify the roles of corresponding genes in the occurrence and progression of diseases, and would also aid in the development of novel treatment strategies, ultimately improving patients' survival.

PURPOSE:The present study aimed to investigate whether the single nucleotide polymorphism (SNP) rs1801552 C/T in CDH1 gene is correlated with the risk of esophageal squamous cell carcinoma (ESCC) and gastric cardiac adenocarcinoma (GCA), as a preliminary study. METHODS:The rs1801552 C/T polymorphism was genotyped by the method of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 1316 cancer patients (810 ESCC and 506 GCA) and 1966 controls in north China. We performed two case-control studies, each of which included a population-based set and a hospital-based set. RESULTS:The data showed that the rs1801552 C/T polymorphism was associated with the risk of ESCC. Allelotype and genotype distributions of the rs1801552 C/T polymorphism in ESCC patients of high-incidence region and hospital were significantly different from that in their respective controls (p < 0.05). Compared with C/C genotype, T/T genotype increased the risk of ESCC in high-incidence region and hospital (age, sex, smoking status and family history of UGIC adjusted odds ratio (OR) = 1.79 and 2.10, 95% confidence interval (CI) = 1.23-2.60 and 1.10-4.04, respectively). Allelotype and genotype distributions of the rs1801552 C/T polymorphism in GCA patients were not significantly different from that in their controls, respectively (p > 0.05). CONCLUSIONS:The findings in the present pilot study suggest that the rs1801552 C/T polymorphism was associated with the risk of ESCC, but was not associated with the risk of GCA in high-incidence region and hospital.

BACKGROUND Osimertinib, a third-generation epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI), has been approved by the U.S. Food and Drug Administration in treating T790M mutationpositive advanced non-small cell lung cancer (NSCLC). A systematic review and meta-analysis was conducted to assess the efficacy and safety of osimertinib in treating advanced NSCLC patients with acquired T790M mutation. METHODS PubMed, EMBASE, Cochrane Library and Web of Science were searched to obtain the eligible studies following the "population, interventions, comparisons, outcomes, study design" (PICOS) criteria. The pooled analysis of objective response rate (ORR), disease controlled rate (DCR), progressionfree survival (PFS), overall survival (OS) and adverse events (AEs) were performed using STATA12.0 and RevMan5.0. RESULTS A total of 1,050 patients were included in the meta-analysis. The combined osimertinib ORR was 0.64 (95% CI, 0.60-0.69), the ORR of central nervous system (CNS) was 0.54 (95% CI, 0.37-0.71), DCR was 0.89 (95% CI, 0.86-0.92), PFS at six months (PFS-6m) rate was 0.69 (95% CI, 0.58-0.79), PFS at one year (PFS-1y) rate was 0.33 (95% CI, 0.20-0.46), OS at one year (OS-1y) rate was 0.69 (95% CI, 0.55-0.84). The pooled incidence rate of the AEs of grade ≥ III was 0.25 (95% CI, 0.09-0.40). The results from Begg's and Egger's tests presented no publication bias in the included studies. CONCLUSIONS Osimertinib demonstrated a superior therapeutic benefit with high efficacy and low toxicity for T790M-positive advanced NSCLC patients who were treated with early-generation EGFR-TKIs. Meanwhile, osimertinib showed promising for the treatment of advanced patients with CNS metastases.

The T-cell immunoglobulin and mucin domain containing molecule 3 (TIM-3), a crucial immune regulatory molecule, is an emerging immune checkpoint target for cancer therapy. Our study aimed to investigate the association between TIM-3 polymorphisms (rs10053538 C > A, rs10515746 C > A, and rs1036199 A > C) and the susceptibility and prognosis of esophageal squamous cell carcinoma (ESCC). We further detect the effects of polymorphisms on TIM-3 expression. Two independent case-control sets (population-based and hospital-based sets) were performed in total 994 ESCC patients and 998 controls. TIM-3 polymorphisms were genotyped by polymerase chain reaction-ligase detection reaction (PCR). Survival data were available for 198 patients who received platinum-based chemotherapy after surgery. The regulation on TIM-3 expression by the polymorphisms was investigated in 35 patients using real-time quantitative PCR. The association between mRNA level of TIM-3 and survival was detected by using Kaplan-Meier plotter database. We found that for rs10053538 C > A polymorphisms, A allele was associated with significant increased risk of ESCC (odds ratios [OR] = 1.34, 95%CI = 1.05-1.72), and CA/AA genotypes enhanced susceptibility to ESCC for smokers (adjusted OR = 1.61, 95%CI = 1.00-2.59). The patients with AA genotypes had significantly poor prognosis (adjusted HR = 4.98, 95%CI = 1.14-21.71). The patients carrying CA/AA genotypes had significantly higher mRNA levels of TIM-3 than those carrying the CC genotype. Furthermore, high mRNA level of TIM-3 had a shorter overall survival in patients (HR = 2.56, 95%CI = 1.04-6.28). For rs10515746 C > A and rs1036199 A > C polymorphisms, there were no statistical correlation with the progression of ESCC. These data demonstrate that rs10053538 C > A polymorphisms may be associated with the susceptibility and prognosis of ESCC patients through regulating expression of TIM-3.

The T-cell immunoglobulin and mucin domain containing molecule 3 ( TIM-3 ), a crucial immune regulatory molecule, is an emerging immune checkpoint target for cancer therapy. Our study aimed to investigate the association between TIM-3 polymorphisms (rs10053538 C > A, rs10515746 C > A, and rs1036199 A > C) and the susceptibility and prognosis of esophageal squamous cell carcinoma (ESCC). We further detect the effects of polymorphisms on TIM-3 expression. Two independent case–control sets (population-based and hospital-based sets) were performed in total 994 ESCC patients and 998 controls. TIM-3 polymorphisms were genotyped by polymerase chain reaction-ligase detection reaction (PCR). Survival data were available for 198 patients who received platinum-based chemotherapy after surgery. The regulation on TIM-3 expression by the polymorphisms was investigated in 35 patients using real-time quantitative PCR. The association between mRNA level of TIM-3 and survival was detected by using Kaplan–Meier plotter database. We found that for rs10053538 C > A polymorphisms, A allele was associated with significant increased risk of ESCC (odds ratios [OR] = 1.34, 95%CI = 1.05–1.72), and CA/AA genotypes enhanced susceptibility to ESCC for smokers (adjusted OR = 1.61, 95%CI = 1.00–2.59). The patients with AA genotypes had significantly poor prognosis (adjusted HR = 4.98, 95%CI = 1.14–21.71). The patients carrying CA/AA genotypes had significantly higher mRNA levels of TIM-3 than those carrying the CC genotype. Furthermore, high mRNA level of TIM-3 had a shorter overall survival in patients (HR = 2.56, 95%CI = 1.04–6.28). For rs10515746 C > A and rs1036199 A > C polymorphisms, there were no statistical correlation with the progression of ESCC. These data demonstrate that rs10053538 C > A polymorphisms may be associated with the susceptibility and prognosis of ESCC patients through regulating expression of TIM-3 .

DNA repair system plays a crucial role in maintaining genomic integrity and stability and in protecting against cancer. Poly(ADP-ribose) polymerase 1 (PARP1) functions as a key enzyme in the base excision repair (BER) pathway. Single nucleotide polymorphism (SNP) that could affect the function or expression of PARP1 gene might be associated with the risk of cancer. This study was designed to evaluate the association between PARP1 SNPs and the susceptibility to esophageal squamous cell carcinoma (ESCC) in a population from Cixian, a high incidence region from northern China. In 574 ESCC patients and 577 controls, PARP1 rs1136410 and rs8679 SNPs were genotyped by polymerase chain reaction ligase detection reaction (PCR-LDR) method. Upper gastrointestinal cancer (UGIC) family history enhanced the risk of ESCC (the sex-, age- and smoking status-adjusted OR 1.355, 95% CI 1.071–1.715). Overall, rs1136410 and rs8679 SNPs did not modify the risk of ESCC. When stratified by sex, age, smoking status and UGIC family history, the rs1136410 C/C genotype was associated with an increased risk of ESCC in smokers compared to T/T or T/C genotype (the sex-, age- and UGIC family history-adjusted OR 1.696, 95% CI 1.032–2.787). In Cixian high incidence region from northern China, smokers with rs1136410 C/C genotype might have higher susceptibility to ESCC than those with T/T or T/C genotype. These high-risk individuals receiving periodic upper gastrointestinal fiber tests might facilitate early detection and early treatment of ESCC.

目的:应用生物信息学方法,分析食管鳞状细胞癌miRNA表达谱,筛选差异miRNA并预测其靶基因,分析其生物学功能.方法:下载GEO数据库食管鳞状细胞癌miRNA表达谱芯片数据GSE114110,应用GEO2R软件对数据进行处理分析,筛选差异表达miRNA;应用GEO数据库食管鳞状细胞癌miRNA表达谱芯片数据GSE97049、GSE59973、GSE55856、GSE43732对所筛选出的差异表达miRNA进行验证;应用miRNet预测其靶基因;采用DAVID进行生物功能富集分析;通过String、Cyto-scape构建靶基因的蛋白-蛋白互作网络并筛选Hub基因,进一步构建miRNA-Hub gene网络;利用star-Base在线分析工具分析Hub基因的表达情况.结果:分析GSE114110芯片数据共筛选出159个DE-miRNAs,在食管癌组织中表达上调的86个,下调的73个.预测上调幅度前三名和下调幅度前三名miRNA的靶基因1700个,它们参与癌症通路、黏着斑、p53信号通路等.在P P I网络中,靶基因连通度最高的前十名为Hub基因,如MAPK1等.通过构建miRNA-Hub gene网络,我们发现大部分Hub基因都可能被hsa-miR-196a-5p和hsa-miR-1调控.hsa-miR-1调控的7个靶基因CDC42、POLR2K、PIK3CA、POLR2I、HIST2H2AC、FN1、VEGFA的表达在ESCC组织中较正常组织明显上调,hsa-miR-1与靶基因之间存在着负相关关系.因此,显著上调的7个基因可能是下调hsa-miR-1的靶点.结论:通过生物信息学方法分析食管鳞癌组织和正常上皮组织的差异DE-miRNAs表达,最终筛选出2个差异显著的miRNA和7个关键的Hub基因为进一步研究食管鳞癌的分子标志物和分子机制提供指导.

OBJECTIVE:Poly (ADP-ribose) polymerase 1 (PARP1), as a key enzyme in the base excision repair pathway, plays a crucial role in tumorigenesis and progression. This study aimed to assess whether polymorphisms of PARP1 gene could be used as predictive biomarkers for the survival of esophageal squamous cell carcinoma (ESCC) patients from Cixian high-incidence region in northern China.METHODS:In 203 ESCC patients with survival information, PARP1 rs1136410 T/C and rs8679 T/C single nucleotide polymorphisms (SNPs) were genotyped by polymerase chain reaction ligase detection reaction (PCR-LDR) method. All statistical analyses were performed using the SPSS ver. 22.0 software package (SPSS, Chicago, IL, USA).RESULTS:The mean age ± standard deviation of the ESCC patients was 60.4 ± 7.9 years. There was no significant relation of sex, age, smoking status and upper gastrointestinal cancer family history with the survival time of the ESCC patients. The mean survival time of rs1136410 T/T, T/C and C/C genotype carriers were 43.3, 42.3 and 46.6 months, respectively. The rs1136410 was not associated with the survival time of the ESCC patients. For rs8679, the mean survival time of T/T genotype carriers was 43.7 months, which was not significantly different from that of the patients with T/C genotype (42.1 months).CONCLUSION:In Cixian high-incidence region from northern China, rs1136410 and rs8679 SNPs might not be used to predict survival of ESCC patients. There is a need to explore whether other SNPs of PARP1 gene have an effect on prognosis of ESCC patients.

Baculoviral inhibitor of apoptosis repeat-containing 5 (BIRC5) is an inhibitor of apoptosis proteins and plays a key role in apoptosis or programmed cell death. In the present study, we evaluated the effect of BIRC5 gene polymorphisms on the risk of developing oesophageal squamous cell carcinoma (ESCC) and patients' outcomes in a high-incidence population from northern China. A population-based case-control study was performed in 597 ESCC patients and 597 control subjects.Survival data were available for 211 patients who received platinum-based chemotherapy after surgery. Five polymorphisms (-31 C>G, -241 C>T, -625 G>C, -644 T>C and -1547 A>G) in the promoter of the BIRC5 gene were genotyped by the polymerase chain reaction-ligase detection reaction (PCR-LDR) method. Compared with the -31 CC genotype, the -31 CG/GG genotype of -31 C>G single nucleotide polymorphism (SNP) was associated with a significant elevated risk of ESCC [adjusted odds ratio (OR) = 1.40, 95% confidence interval (CI) = 1.07-1.84]. Interestingly, this association was stronger among females, younger patients and non-smokers in stratified analyses (adjusted OR = 1.72, 95% CI = 1.07-2.75; adjusted OR = 1.61, 95% CI = 1.10-2.36; adjusted OR = 1.80, 95% CI = 1.26-2.58, respectively]. Survival analyses showed that the T allele of -241 C>T SNP was associated with poor prognosis [hazard ratio (HR) = 2.99, 95% CI = 1.09-8.19) and that the C allele of -625 G>C SNP was associated with good prognosis (HR = 0.62, 95% CI = 0.38-0.99) in ESCC patients. The -31 C>G polymorphism may be involved in the development of ESCC, and the -241 C>T and -625 G>C polymorphisms may be useful prognostic markers for ESCC.

目的 综合评价长链非编码RNA HOTAIR基因的单核苷酸多态性与癌症易感性的关系.方法 全面检索PubMed、CNKI、FMJS、EMBASE和万方数据库等,并结合手工检索、文献追溯等方法,收集所有符合纳入标准的病例对照研究.应用Meta分析的方法合并HOTAIR基因多态与癌症易感性关系的OR值,并进行亚组分析、敏感性分析及发表偏倚检验.结果 共纳入23篇文献,累计病例16 279例,对照19 530例.结果显示,rs920778:C ＞T多态可增加癌症发病风险(显性遗传模型:OR=1.36 [1.19,1.54],P＜0.01;隐性遗传模型:OR=1.60 [1.24,2.06],P＜0.01),尤其显著增加亚洲人种的癌症发病风险.rs4759314:A＞G多态(显性遗传模型:OR=1.09 [1.01,1.17],P=0.02),rs874945:G＞A多态(显性遗传模型:OR=1.11 [1.02,1.20],P=0.01)和rs12826786:C ＞T多态(隐性遗传模型:OR=1.60 [1.24,2.06],P＜0.01)可增加癌症发病风险,而rs7958904:G＞C多态(显性遗传模型:OR=0.86 [0.76,0.97],P=0.01)可降低癌症发病风险.rs1899663:G＞T多态则与癌症发生无明显相关.结论 HOTAIR基因多态性(rs920778:C ＞T多态,rs4759314:A＞G多态,rs7958904:G＞C多态,rs874945:G＞A多态和rs12826786:C＞T多态)与癌症发病风险相关.

The present study aimed to investigate whether the single nucleotide polymorphisms (SNPs) rs2010963 and rs833061 in vascular endothelial growth factor (VEGF) gene is correlated with the risk of polycystic ovary syndrome (PCOS) in Northern Chinese women, as a preliminary study. This case-control study comprised 118 women with PCOS and 130 healthy women as controls. Genotyping of the two polymorphisms within the VEGF gene 5-untranslated region and promoter region were performed using polymerase chain reaction ligase detection reaction method. The data showed that there was a significant difference in the genotype and allele distribution of the rs2010963 polymorphism between the PCOS group and the control group (p=.020 and .033, respectively). The women carrying the C allele (G/C+C/C genotype) had a lower risk of PCOS compared with the women with G/G genotype [odds ratio (OR=0.55; 95% confidence interval (CI)=0.33-0.91]. Our study shows for the first time that the rs2010963 polymorphism may be associated with a risk of PCOS in Northern Chinese women.