Association of TERT gene polymorphisms with clinical benign prostatic hyperplasia in a Chinese Han population of the Northwest region

BackgroundTo investigate the association between single nucleotide polymorphisms (rs10078761, rs12696304, rs2853669, rs16847897, rs2736100, rs10069690) of telomerase gene (TERT) and the risk clinical benign prostatic hyperplasia (BPH) in a Chinese Han population of the Northwest region.MethodsA total of 150 BPH patients and 150 healthy older males from the northwest Chinese Han population were included in this study. The sample size for this unmatched case-control study was estimated by the look-up table method. Meanwhile, the general information and disease data of patients were collected. Age was only collected in healthy control subjects for statistical correction. Genotypes were detected using a multiplex PCR + ligase detection reaction (LDR). Typing results and clinical data were statistically analyzed using multiple linear regression and logistic regression. Pearson correlation was used for Hardy-Weinberg equilibrium.ResultsThe included population is in Hardy-Weinberg equilibrium. There was no significant association between SNP and the risk of BPH by correlation analysis. However, 4 haplotypes (TCTGGT, TCTGTC, TGCCTC, and TGTGTC) were identified as risk factors of BPH by haplotype analysis. The SNP rs2853669 is an independent risk factor for smooth muscle type of hyperplasia. Besides, rs2736100, rs10078761, and rs10069690 which are in linkage disequilibrium are associated with the severity of BPH.ConclusionsPolymorphism of the TERT gene determines the different disease development and pathological manifestations of BPH in the Chinese Han population the Northwest region.     

Mutation profile and its correlation with clinicopathology in Chinese hepatocellular carcinoma patients

BackgroundHepatocellular carcinoma (HCC) is one of the most common causes of cancer worldwide. Although many studies have focused on oncogene characteristics, the genomic landscape of Chinese HCC patients has not been fully clarified.MethodsA total of 165 HCC patients, including 146 males and 19 females, were enrolled. The median age was 55 years (range, 27–78 years). Corresponding clinical and pathological information was collected for further analysis. A total of 168 tumor tissues from these patients were selected for next-generation sequencing (NGS)-based 450 panel gene sequencing. Genomic alterations including single nucleotide variations (SNV), short and long insertions and deletions (InDels), copy number variations, and gene rearrangements were analyzed. Tumor mutational burden (TMB) was measured by an algorithm developed in-house. The top quartile of HCC was classified as TMB high.ResultsA total of 1,004 genomic alterations were detected from 258 genes in 168 HCC tissues. TMB values were identified in 160 HCC specimens, with a median TMB of 5.4 Muts/Mb (range, 0–28.4 Muts/Mb) and a 75% TMB of 7.7 Muts/Mb. The most commonly mutated genes were TP53, TERT, CTNNB1, AXIN1, RB1, TSC2, CCND1, ARID1A, and FGF19. SNV was the most common mutation type and C:G>T:A and guanine transformation were the most common SNVs. Compared to wild-type patients, the proportion of Edmondson grade III–IV and microvascular invasion was significantly higher in TP53 mutated patients (P<0.05). The proportion of tumors invading the hepatic capsule was significantly higher in TERT mutated patients (P<0.05). The proportion of Edmondson grade I-II, alpha fetoprotein (AFP) <25 µmg/L, and those without a history of hepatitis B was significantly higher in CTNNB1 mutated patients (P<0.05). CTNNB1 mutations were associated with TMB high in HCC patients (P<0.05). Based on correlation analysis, the mutation of TP53 was independently correlated with microvascular invasion (P=0.002, OR =3.096) and Edmondson grade III–IV (P=0.008, OR =2.613). The mutation of TERT was independently correlated with tumor invasion of the liver capsule (P=0.001, OR =3.030), and the mutation of CTNNB1 was independently correlated with AFP (<25 µmg/L) (P=0.009, OR =3.414).ConclusionsThe most frequently mutated genes of HCC patients in China were TP53, TERT, and CTNNB1, which mainly lead to the occurrence and development of HCC by regulating the P53 pathway, Wnt pathway, and telomere repair pathway. There were more patients with microvascular invasion and Edmondson III–IV grade in TP53 mutated patients and more patients with hepatic capsule invasion in TERT mutated patients, while in CTNNB1 mutated patients, there were more patients with Edmondson I–II grade, AFP <25 µmg/L, and a non-hepatitis B background. Also, the TMB values were significantly higher in CTNNB1 mutated patients than in wild type patients.     

Occurrence,Human Exposure,and Risk Assessment of Polybrominated Dibenzo-p-Dioxins and Dibenzofurans,Polychlorinated Naphthalenes,and Metals in Atmosphere Around Industrial Parks in Jiangsu,China

Air samples were collected around industrial parks in Jiangsu, China, to allow the concentrations, profiles, and risk assessment of polybrominated dibenzo-p-dioxins and dibenzofurans (PBDD/Fs), polychlorinated naphthalenes (PCNs), and metals to be investigated. The concentrations of ΣPBDD/Fs and ΣPCNs were 1324.26–2080.98 fg/m³ (11.35–42.57 fg I-TEQ/m³) and 10,404.9–29,322.9 fg/m³ (1.32–7.19 fg I-TEQ/ m³), respectively. The highest concentration of ΣPBDD/Fs and ΣPCNs were observed at site C. PBDD/Fs were mainly dominated by PBDFs. The main contributor to the ΣPBDD/Fs in all samples was 1,2,3,4,6,7,8-HpBDF, which accounted for 25.75%–39.4%. For PCNs, the predominating homologues were tetra-, tri- and penta-CNs, which contributed 30.7%–43.3%, 24.7%–31.0%, and 10.6%–21.6%, respectively. As for metals, the pollution of As, Mn, Cr, and Ni in most samples exceeded National Ambient Air Quality Standards of China. Assessing the risk of inhalation exposure showed that there were potential carcinogenic risks to local residents.

     

Phthalates in House and Dormitory Dust: Occurrence,Human Exposure and Risk Assessment

Bulletin of Environmental Contamination and Toxicology - Phthalates are one of ubiquitous contaminants in the indoor environment. In this study, we analyzed concentrations and profiles of 9...     

Chronic Effects of Bromate on Sexual Reproduction of Freshwater Rotifer Brachionus calyciflorus

The effects of potassium bromate (KBrO₃), sodium bromate (NaBrO₃), and potassium bromide (KBr) on the sexual reproduction of the rotifer Brachionus calyciflorus were studied by 2-d population growth, 4-d sexual reproduction, and 7-d resting egg production tests. The results showed that low concentrations of bromate promote 2-d and 4-d rotifer population growth, while high concentrations limit it. Bromate stress significantly affected parameters of rotifer sexual reproduction, including the ratio of mictic to amictic females, the mictic rate of rotifers, and the fertilization rate of mictic females. KBrO₃ at 0.001, 0.01, 1, and 10 mg/L, NaBrO₃ at 1 and 10 mg/L, and KBr at 100 and 200 mg/L significantly increased resting egg production, while KBrO₃ at 100 and 200 mg/L, and NaBrO₃ at 200 mg/L significantly decreased it. Resting egg production appears to provide a sensitive endpoint in evaluating the effect of bromate on rotifer sexual reproduction.

     

Assessment of Carbendazim Residues and Safety in Celery Under Different Cultivation Conditions

Although the carbendazim is widely used to manage spot blight in celery cultivation, information on residues identified is of interest. In this study, we examined the dissipation and residual amounts of carbendazim in celery and soil under different cultivation methods when using the suggested dose and ten times of that and the bioconcentration factor of carbendazim for celery. The results showed that when celery leaves were sprayed with the suggested dose, the half-lives in a celery field and greenhouse were 2.75 days and 3.29 days, respectively. When the soil matrix was sprayed with the recommended dose before cultivation, the half-lives of carbendazim residues were 16.86 days and 11.97 days. We also conducted a long-term dietary risk assessment using the corresponding criteria. The results showed that, in China, the use of carbendazim at a dose of 0.022 g/m² is safer and more reasonable when the harvest interval is 28 days.

     

匹配在观察性研究中的作用——有向无环图视角

匹配是观察性研究中选择研究对象的一种常用方法,具有控制混杂因素、提高统计效率等作用,但其控制混杂因素的作用在不同观察性研究中并不一致,匹配在队列研究中能够消除匹配变量的混杂偏倚,但在病例对照研究中匹配本身并不能消除混杂偏倚。在匹配性病例对照研究选择匹配变量时,研究者可能并不能准确判断该变量是否为混杂变量,若误将真实情况为非混杂因素的变量进行匹配,则会形成过度匹配,造成统计效率下降或引入难以避免的偏倚或增加工作量等;若将真实情况为混杂因素的变量遗漏不予匹配,则会造成混杂偏倚。有向无环图是一种直观的展示不同流行病学研究设计、变量间复杂因果关系的可视化图形语言。本文从有向无环图视角分析匹配在不同观察性研究设计中的作用、匹配性病例对照研究中欲匹配变量的选择标准制定,为今后流行病学研究设计提供一定的参考建议。     

1999-2018年天津市居民平均期望寿命变化分析

目的 分析近20年天津市居民期望寿命变化规律以及对期望寿命增量的影响因素。方法 应用简略寿命表、期望寿命差异的年龄和死因分解法对天津市户籍居民1999-2018年死因监测数据进行分析,计算不同年龄、不同疾病死亡率对期望寿命增量的贡献值和百分比。结果 20年间天津市户籍居民期望寿命增加了4.97岁,男性、女性期望寿命分别增加4.11岁和5.86岁,女性增幅高于男性。0岁组死亡率下降对期望寿命增加的贡献率为19.17%,≥55岁组居民死亡率下降对期望寿命的增加贡献较大,累计贡献率为67.38%。脑血管病、呼吸系统疾病、心脏病、围生期情况、先天畸形以及损伤和中毒死亡率下降对期望寿命提高的贡献较大,贡献率分别为27.27%、21.37%、15.76%、12.22%、6.44%和4.86%。恶性肿瘤、损伤和中毒、糖尿病、神经系统疾病等死亡率的增加对≥75岁人群寿命增长产生负向作用。天津市期望寿命增加具有阶段性特点,1999-2011年为76.72~81.46岁,具有上升趋势（t=9.11,P<0.001）,年度变化百分比（APC）为0.58%;2011-2018年为81.46~81.69岁,为平稳趋势（t=0.89,P=0.387）,APC为0.13%。结论 1999-2018年天津市居民期望寿命增长主要归因于婴儿、老年人、脑血管病、呼吸系统疾病、心脏病、围生期情况、先天畸形以及损伤和中毒死亡率的下降,而≥75岁人群恶性肿瘤、损伤和中毒、糖尿病、神经系统疾病等死亡率的增加对期望寿命增长产生了负向作用。应加强重点人群、重点疾病的综合防治,进一步提高人群期望寿命。     

非综合征型单纯腭裂遗传流行病学研究进展

单纯腭裂是一种较为常见的出生缺陷,其中非综合征型单纯腭裂（NSCPO）占50%。NSCPO是受遗传和环境共同作用的复杂疾病,与非综合征型唇裂伴或不伴腭裂（NSCL/P）不同,通过全基因组关联研究发现的与NSCPO相关的常见遗传变异相对较少。本文对NSCPO的遗传流行病学研究进展进行综述。根据现有研究证据将已发现的NSCPO候选基因分为研究证据比较充分的候选基因、具备一定研究证据的候选基因和现有研究证据较少的候选基因三类,展望了表观遗传学研究、新一代测序技术、交互作用分析在NSCPO病因探索中的应用,为进一步开展病因学研究提供线索。     

妊娠期冠状病毒感染与母婴健康研究进展

目前全球范围内正流行新型冠状病毒肺炎（COVID-19）,而其强烈的传播性已引发重大公共卫生危机。新型冠状病毒与严重急性呼吸综合征（SARS）冠状病毒、中东呼吸综合征（MERS）冠状病毒存在高度病原同源性,同为β属冠状病毒。由于孕妇群体在生理和心理上存在一定脆弱性,为疫情流行期间的易感人群和高危人群,本文将对目前所报道的孕产妇罹患SARS、MERS、COVID-19对母婴健康影响进行文献综述,旨在为COVID-19流行中孕妇健康管理与防控提供依据。