Regulation of cGAS activity by RNA-modulated phase separation.

Cyclic GMP-AMP synthase (cGAS) is a double-stranded DNA (dsDNA) sensor that functions in the innate immune system. Upon binding dsDNA, cGAS and dsDNA form phase-separated condensates in which cGAS catalyzes the synthesis of 2'3'-cyclic GMP-AMP that subsequently triggers a STING-dependent, type I interferon (IFN-I) response. Here, we show that cytoplasmic RNAs regulate cGAS activity. We discover that RNAs do not activate cGAS but rather promote phase separation of cGAS in vitro. In cells, cGAS colocalizes with RNA and forms complexes with RNA. In the presence of cytoplasmic dsDNA, RNAs colocalize with phase-separated condensates of cGAS and dsDNA. Further in vitro assays showed that RNAs promote the formation of cGAS-containing phase separations and enhance cGAS activity when the dsDNA concentration is low. Cotransfection of RNA with a small amount of dsDNA into THP1 cells significantly enhances the production of the downstream signaling molecule interferon beta (IFNB). This enhancement can be blocked by a cGAS-specific inhibitor. Thus, cytoplasmic RNAs could regulate cGAS activity by modulating the formation of cGAS-containing condensates.

CDH1 Gene rs1801552 C/T Polymorphism Increases Susceptibility to Esophageal Squamous Cell Carcinoma but Not to Gastric Cardiac Adenocarcinoma.

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.

TIM-3 polymorphism is involved in the progression of esophageal squamous cell carcinoma by regulating gene expression.

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.

PARP1 Gene Polymorphisms and the Prognosis of Esophageal Cancer Patients from Cixian High-Incidence Region in Northern China.

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.

Association of cytotoxic T-lymphocyte associated protein 4 gene polymorphisms with the risk and prognosis of oesophageal cancer in a high-incidence region from northern China.

The most important anti-tumour immune response is mediated by T lymphocytes. Cytotoxic T lymphocyte-associated protein 4 (CTLA4) plays a critical role in the immune surveillance against tumours as an inhibitory immune checkpoint molecule of T-cell activation. This study was designed to explore the association of CTLA4 polymorphisms with the susceptibility to oesophageal squamous cell carcinoma (ESCC) and prognosis of patients with ESCC in a high-incidence population from northern China. CTLA4 rs5742909 C/T and rs231775 G/A single nucleotide polymorphisms (SNPs) were genotyped using polymerase chain reaction-ligase detection reaction (PCR-LDR) method in 577 ESCC patients and 580 controls. Upper gastrointestinal cancer family history increased the risk of ESCC (the sex-, age- and smoking status-adjusted OR = 1.383, 95%CI = 1.094-1.749). The genotype frequencies of these two SNPs in the patients with ESCC were similar to that in the controls. Survival analyses were conducted in 204 patients with ESCC with five-year survival information. The mean survival time of ESCC patients with rs231775 SNP A/A genotype in age over 60 years group was 23.2 months, significantly shorter than that of those with G/G genotype (47.3 months). The A/A genotype was associated with increased death risk of patients with ESCC older than 60 years (adjusted HR = 4.544, 95%CI = 1.913-10.790). CTLA4 rs231775 SNP might be used as genetic marker of worse prognosis for patients with ESCC over 60 years in a high-incidence population from northern China.

The effect of polymorphisms in the promoter of the BIRC5 gene on the risk of oesophageal squamous cell carcinoma and patient's outcomes.

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.

Association between the vascular endothelial growth factor gene polymorphisms and the risk of polycystic ovary syndrome in Northern Chinese women.

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.

Multidirectional Prediction Approach for Dynamic Multiobjective Optimization Problems.

Various real-world multiobjective optimization problems are dynamic, requiring evolutionary algorithms (EAs) to be able to rapidly track the moving Pareto front of an optimization problem once an environmental change occurs. To this end, several methods have been developed to predict the new location of the moving Pareto set (PS) so that the population can be reinitialized around the predicted location. In this paper, we present a multidirectional prediction strategy to enhance the performance of EAs in solving a dynamic multiobjective optimization problem (DMOP). To more accurately predict the moving location of the PS, the population is clustered into a number of representative groups by a proposed classification strategy, where the number of clusters is adapted according to the intensity of the environmental change. To examine the performance of the developed algorithm, the proposed prediction strategy is compared with four state-of-the-art prediction methods under the framework of particle swarm optimization as well as five popular EAs for dynamic multiobjective optimization. Our experimental results demonstrate that the proposed algorithm can effectively tackle DMOPs.

Phospholipase C ε-1 gene polymorphisms and prognosis of esophageal cancer patients from a high-incidence region in northern China.

Recent genome-wide association studies identified susceptibility loci for esophageal squamous cell carcinoma (ESCC), the most common histological type of esophageal cancer, in the phospholipase C ε-1 gene (PLCE1). The aim of the present study was to investigate whether polymorphisms of PLCE1 were associated with the prognosis of ESCC patients in a high-incidence region of northern China. The PLCE1 rs2274223 A/G and rs11599672T/G single-nucleotide polymorphisms (SNPs) were genotyped by polymerase chain reaction-ligase detection reaction method in 207 ESCC patients with survival information. The mean age ± standard deviation of the 207 ESCC patients was 60.3±7.9 years. Sex, age, smoking status and family history of upper gastrointestinal cancer were not found to be associated with the survival time of ESCC patients. The mean survival time of rs2274223 SNP A/A, A/G and G/G genotype carriers were 42.9, 43.4 and 46.3 months, respectively; for rs11599672 SNP T/T, T/G and G/G genotype carriers the survival time were 42.8, 43.8 and 42.7 months, respectively. There was no significant difference in survival time among the ESCC patients with different genotypes of rs2274223 and rs11599672 SNPs. In conclusion, PLCE1 rs227423 and rs11599672 SNPs cannot be used as predictive markers for the survival of ESCC patients from a high-incidence region of northern China.

Environment Sensitivity-Based Cooperative Co-Evolutionary Algorithms for Dynamic Multi-Objective Optimization.

Dynamic multi-objective optimization problems (DMOPs) not only involve multiple conflicting objectives, but these objectives may also vary with time, raising a challenge for researchers to solve them. This paper presents a cooperative co-evolutionary strategy based on environment sensitivities for solving DMOPs. In this strategy, a new method that groups decision variables is first proposed, in which all the decision variables are partitioned into two subcomponents according to their interrelation with environment. Adopting two populations to cooperatively optimize the two subcomponents, two prediction methods, i.e., differential prediction and Cauchy mutation, are then employed respectively to speed up their responses on the change of the environment. Furthermore, two improved dynamic multi-objective optimization algorithms, i.e., DNSGAII-CO and DMOPSO-CO, are proposed by incorporating the above strategy into NSGA-II and multi-objective particle swarm optimization, respectively. The proposed algorithms are compared with three state-of-the-art algorithms by applying to seven benchmark DMOPs. Experimental results reveal that the proposed algorithms significantly outperform the compared algorithms in terms of convergence and distribution on most DMOPs.

Pain management for combat casualty care in the United States army / 第二军医大学学报

In Afghanistan and Iraqi war, the war mortality has been greatly reduced due to the upgrading of United States medical technology and equipment and the optimization of the rapid evacuation of the wounded. With the improvement of survival rate, pain management is more important in the combat casualty care in United States army. The United States army implements a grading pain management strategy in the 5-level combat casualty care system, which may be an important reference for Chinese military. This paper reviews the current pain management for combat casualty care of United States army, analyzes the advantages and disadvantages of therapeutic drugs and protocols, and highlights the enlightenment on improving pain management in Chinese military in future.

Cloning and expression analysis of a novel alkaline/neutral invertase (DoNI2) gene in Dendrobium officinale / 中草药

Objective: To clone novel member of alkaline/neutral invertase (NI) gene in a rare and endangered medicinal plant of Dendrobium officinale, conduct bioinformatic analysis and detect the quantitative expression in different organs. Methods: Primers were designed according to NI gene segment which was selected from leaf transcriptome sequencing results of D. officinale. The full-length cDNA of NI gene was cloned via homology-based cloning and rapid amplification of cDNA ends (RACE) approach. The physical and chemical properties, secondary structure and tertiary structure of NI protein were forecasted and analyzed using related software. The expression levels of NI gene in roots, stems, and leaves of D. officinale were detected using real-time PCR. Results: A novel gene encoding a NI protein was cloned from D. officinale. This gene (named as DoNI2, GenBank accession number: KY794404) had a total length of 2 397 bp with an open reading frame of 1 836 bp, and encoded a predicted polypeptide of 611 amino acids with a molecular weight of 69 050. Bioinformatics predicted that the isoelectric point of DoNI2 gene encoding protein was 6.38, the instability coefficient was 44.95, and the hydrophobic coefficient was −0.232. RT-PCR showed that DoNI2 gene expressed in all organs with highest expression level in stems and the lowest in roots. DoNI2 gene expression was significantly positively correlation with NI enzymatic activities at different growth years of D. officinale. Conclusion: The full length cDNA sequence in a mitochondrial DoNI2 gene was identified, facilitating future functional analysis of the gene involving in the regulation of sugar metabolism in D. officinale.

Expression of long noncoding RNA (linc-VLDLR) in extracellular vesicles and its relation to the development and multidrug resistance of esophageal cancer / 解放军医学杂志

Objective To investigate the relationship between the expression of linc-VLDLR in extracellular vesicles (EVs) and the development and drug resistance of esophageal carcinoma.Methods Fifty percent of inhibitory concentration (ICs0) ofadriamycin (ADM) for Eca109 cells was detected by MTT assay,after the treatment of esophageal squamous cell carcinoma Eca109 cell line with different concentrations of ADM for 24h.The culture medium was treated with 3 concentrations of ADM based on the IC50 for 24h for extracting EVs in Eca109 cells.linc-VLDLR mRNA expression in EVs was detected by qRT-PCR assay.ICs0 of ADM for Eca109 cells intervened by EVs for 48h was detected by MTT assay.Cell cycle was detected by FCM and linc-VLDLR and ABCG2mRNA expressions in Eca109 cells were detected by qRT-PCR after the treatment of the EVs for 48h.Results ICs0 of ADM acting on Eca109 cells for 24h was 0.44 ± 0.02μg/ml,so ADM concentrations of 0.2,0.4,0.8μg/ml were choosed in the following studies.EVs were extracted from the supernatant after the treatment of 0,0.2,0.4,0.8μg/ml ADM for 24h and were labeled as EVs1,2,3 and 4 respectively.LincVLDLR mRNA expression in EVs4 was significantly higher than that in EVs1-3 (P＜0.01).ADM ICs0 for Eca109 cells in EVs4 group was significantly higher than that in other groups after the treatment of EVs1-4 on Eca109 cells for 48h (P＜0.05).Flow cytometry results showed that the proliferation index of Eca109 cells in EVs4 group was significantly higher than that in EVs 1-3 and control groups (P＜0.01).Linc-VLDLR and ABCG2 mRNA expression levels in Eca109 cells of EVs4 group were significantly higher than these of EVs1-3 and control groups (P＜0.05).Conclusions High expression of linc-VLDLR and ABCG2 gene in esophageal cancer cells is involved in the formation of esophageal cancer resistance.EVs released by drug-resistant cells can upregulate the expression of ABCG2 in esophageal cancer cells and regulate the drug resistance of esophageal cancer cells,which is related to the linc-VLDLR gene carried by EVs.

Programmed death-1 ligand-1 gene rs2890658 polymorphism associated with the risk of esophageal squamous cell carcinoma in smokers.

BACKGROUND: The most important anti-tumor immune response is mediated by T lymphocytes. The interaction of programmed death-1 ligand-1 (PD-L1) with its receptor provides an inhibitory signal in T lymphocytes activation and proliferation. OBJECTIVE: This study aimed to investigate whether polymorphisms of PD-L1 were associated with the risk and prognosis of esophageal squamous cell carcinoma (ESCC) in a high-incidence population from Northern China. METHODS: PD-L1 rs2890658 A/C and rs4143815 C/G single nucleotide polymorphisms (SNPs) were genotyped by polymerase chain reaction ligase detection reaction (PCR-LDR) method in 575 ESCC patients and 577 healthy controls. RESULTS: There was no significant difference in the genotype frequencies of these two SNPs between the ESCC patients and the healthy controls. However, for rs2890658 A/C SNP, compared with the C/C genotype, the A/C genotype increased the risk of ESCC for the smokers (OR = 1.513, 95% CI = 1.006-2.287). Among the 575 ESCC patients, the survival information of 202 ESCC patients was collected. Neither the rs2890658 A/C SNP nor the rs4143815 C/G SNP was associated with the survival of ESCC patients. CONCLUSIONS: PD-L1 rs2890658 A/C SNP might be used as risk marker of the susceptibility to ESCC for the Han nationality in a high-incidence population from Northern China.

The effect of polymorphisms in PD-1 gene on the risk of epithelial ovarian cancer and patients' outcomes.

OBJECTIVE: Programmed death-1 (PD-1), an important immunosuppressive molecule, plays a key role in tumor-cell-mediated immune escape. In the present study, we evaluated the effect of PD-1 gene polymorphisms on the risk of developing epithelial ovarian cancer (EOC) and patients' outcomes. METHODS: A case-control study was performed in 620 EOC patients and 620 control women. Survival data were available for 258 patients who received platinum-based chemotherapy after cytoreductive surgery. RESULTS: There were significant differences in the genotype and allele distribution frequencies of the PD-1.1 A/G between cases and controls (P=0.028 and P=0.02, respectively). Compared with the AA genotype, AG and GG genotypes may significantly decrease the risk of developing EOC (OR=0.71, 95%CI=0.54-0.94; OR=0.68, 95%CI=0.50-0.94, respectively). We did not find a significant difference in the genotype distribution frequency of the PD-1.5 C/T between cases and controls (P=0.096), but the frequency of T alleles was significantly lower in the EOC cases than that in the controls (P=0.033). Compared to the carriers with C alleles, the carriers with T alleles were at a significantly decreased risk of developing EOC (OR=0.82, 95%CI=0.69-0.98). Survival analysis showed that the two polymorphisms were not associated with patients' outcomes. CONCLUSIONS: PD-1 gene polymorphisms may be involved in the development of EOC, but not associated with its clinical outcome in EOC patients among northern Chinese women.

Effect of Mepilex on pressure sores in patients lying at lateral position after craniocerebral surgery / 现代临床护理

Objective To investigate the effect of Mepilex on pressure sores in patients at lateral position after craniocerebral surgery.Methods Toally 60 patients lying at lateral position after craniocerebral surgery were randomized into two groups in equal number with random digit table:the control group and experiment group.In the control group,Gel pad was used to prevent and treat the pressure sores and in the experiment group Mepilex was used between the compressed skin and operation table before setting the position.The skin conditions of the two groups were observed after operation.Result The prophylactic effect of pressure sore in the experiment group was significantly better than that in the control group (P＜0.05).Conclusion Mepilex can prevent the skin pressure sores in the patients at lateral position after cerebral surgery.

The Associations of Genetic Variants in E-cadherin Gene With Clinical Outcome of Epithelial Ovarian Cancer.

OBJECTIVE: The E-cadherin protein plays major roles in tumor progression, invasion, and metastasis. Polymorphisms located in the E-cadherin gene (CDH1) may contribute to increased risks of specific cancers. In this study, we evaluated the associations between genetic variants in CDH1 and the clinical outcomes of patients with epithelial ovarian cancer (EOC). MATERIALS AND METHODS: We assessed the -160C/A and -347G/GA polymorphisms in the promoter region, as well as the 3'-UTR +54C/T polymorphism of E-cadherin, in 257 patients with EOC by ligase detection reaction-polymerase chain reaction. RESULTS: Multivariate analysis showed that patients with EOC with the CDH1 -347GA/GA genotype had shorter progression-free survival and overall survival (hazard ratio [HR], 2.16; 95% confidence interval [CI], 1.06-4.40 and HR, 2.06; 95% CI, 1.01-4.19, respectively) compared to those carrying the G/G genotype. Likewise, the patients with the CDH1 -160A/A genotype had a shorter progression-free survival than those with the C/C genotype (HR, 4.12; 95% CI, 1.43-111.88). No significant association was detected between the CDH1 3'-UTR +54C/T polymorphism and survival of the patients with EOC. CONCLUSIONS: The CDH1 -347GA/GA and -160A/A genotypes may be prognostic markers that can help to identify patients at increased risk of invasive/metastatic cancer in northern China.

Association of programmed death-1 polymorphisms with the risk and prognosis of esophageal squamous cell carcinoma.

Programmed death-1 (PD-1) is an immunoinhibitory receptor belonging to the CD28 family. This study was designed to investigate the association of PD-1 rs36084323:A>G, rs2227981:C>T, rs2227982:C>T and rs10204525:A>G single nucleotide polymorphisms (SNPs) with the risk and prognosis of esophageal squamous cell carcinoma (ESCC) in a high-incidence population from Northern China. These four SNPs were genotyped by polymerase chain reaction ligase detection reaction (PCR-LDR) method in 584 ESCC patients and 585 healthy controls. The rs2227981:C>T SNP C/T genotype increased the risk of ESCC for the smokers (OR = 1.483, 95% CI = 1.018-2.160) and rs2227982:C>T SNP C/T genotype enhanced susceptibility to ESCC for the females (OR = 1.708, 95% CI = 1.056-2.762). For rs10204525:A>G SNP, A/A genotype was related to increased risk of ESCC (OR = 1.735, 95% CI = 1.086-2.771) overall. Among the 584 ESCC patients, the survival information of 204 ESCC patients was collected. The rs36084323:A>G SNP A/G genotype was associated with lower risk of death in ESCC patients with upper gastrointestinal cancer (UGIC) family history (HR = 0.339, 95%CI = 0.115-0.996). The rs2227982:C>T SNP C/T genotype was associated with lower risk of death in smoker ESCC patients and ESCC patients with UGIC family history (HR = 0.409 and 0.292, 95%CI = 0.194-0.863 and 0.101-0.847). PD-1 rs2227981:C>T, rs2227982:C>T and rs10204525:A>G SNPs might be used as predictive markers of the susceptibility to ESCC for the Han nationality in a high-incidence population from Northern China. PD-1 rs36084323:A>G and rs2227982:C>T SNPs were associated with the prognosis of the Han ESCC patients in this high-incidence region.

XPG Gene Polymorphisms and the Risk of Gastric Cardia Adenocarcinoma.

BACKGROUND: Polymorphisms in DNA repair genes can alter an individual's DNA repair capability and contribute to the risk of various cancers. AIMS: This study was designed to evaluate the association of single-nucleotide polymorphisms (SNPs) in the XPG gene with the risk of gastric cardia adenocarcinoma (GCA) in a high-incidence population in northern China. METHODS: Two SNPs from 431 GCA patients and 432 healthy controls were genotyped using the polymerase chain reaction/ligase detection reaction (PCR-LDR) method. RESULTS: The rs751402 C/T SNP T allele and the T/T genotype were associated with an increased risk of GCA in younger individuals (≤61 years) (odds ratio [OR] = 1.33 and 1.77, 95% confidence interval [CI] = 1.00-1.76 and 1.12-3.30, respectively). The rs873601 G/A SNP was not associated with susceptibility to GCA. CONCLUSIONS: Our findings indicate that the rs751402 C/T SNP has potential as a predictive marker for the risk of GCA and that carriers of the T/T genotype should receive periodic upper gastrointestinal fiber tests to facilitate the early detection and early treatment of GCA.

Genetic variation of the E-cadherin gene is associated with primary infertility in patients with ovarian endometriosis.

OBJECTIVE: To explore the association between the genetic variant of E-cadherin gene and endometriosis-related infertility. DESIGN: Case-control study. SETTING: University hospital. PATIENT(S): Five hundred eighty-nine women with ovarian endometriosis including 127 patients with primary infertility and 589 female controls in northern China. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Single nucleotide polymorphisms (SNPs) in the promoter region, exons, and the 3' untranslated region of the E-cadherin gene were identified by direct sequencing in patients with ovarian endometriosis and with polymerase chain reaction (PCR). Six candidate SNPs (rs16260, rs28372783, rs1801552, rs1801026, rs8049282, and rs13689) were genotyped by PCR and ligase detection reaction. RESULT(S): The results revealed a significant association of rs8049282 SNP on E-cadherin gene with endometriosis-related infertility. When compared with control women or endometriosis patients who had a history of successful fertility, the CC genotype of rs8049282 may significantly increase the risk of primary infertility in patients with ovarian endometriosis (adjusted odds ratio [OR] = 2.70, 95% confidence interval [CI] 1.45-5.00; OR = 2.54, 95% CI 1.45-4.44, respectively). CONCLUSION(S): Our results suggested that genetic variants on the E-cadherin gene may be involved in endometriosis-related infertility. The rs8049282 SNP of the E-cadherin gene may be a potential molecular marker for the development of primary infertility in northern Chinese women with ovarian endometriosis.