The Association between Exposure to Second-Hand Smoke and Disease in the Chinese Population: A Systematic Review and Meta-Analysis / 生物医学与环境科学（英文）

OBJECTIVE@#To analyze the association between exposure to second-hand smoke (SHS) and 23 diseases, categorized into four classifications, among the Chinese population.@*METHODS@#We searched the literature up to June 30, 2021, and eligible studies were identified according to the PECOS format: Participants and Competitors (Chinese population), Exposure (SHS), Outcomes (Disease or Death), and Study design (Case-control or Cohort).@*RESULTS@#In total, 53 studies were selected. The odds ratio (OR) for all types of cancer was 1.79 (1.56-2.05), and for individual cancers was 1.92 (1.42-2.59) for lung cancer, 1.57 (1.40-1.76) for breast cancer, 1.52 (1.12-2.05) for bladder cancer, and 1.37 (1.08-1.73) for liver cancer. The OR for circulatory system diseases was 1.92 (1.29-2.85), with a value of 2.29 (1.26-4.159) for stroke. The OR of respiratory system diseases was 1.76 (1.13-2.74), with a value of 1.82 (1.07-3.11) for childhood asthma. The original ORs were also shown for other diseases. Subgroup analyses were performed for lung and breast cancer. The ORs varied according to time period and were significant during exposure in the household; For lung cancer, the OR was significant in women.@*CONCLUSION@#The effect of SHS exposure in China was similar to that in Western countries, but its definition and characterization require further clarification. Studies on the association between SHS exposure and certain diseases with high incidence rates are insufficient.

The challenge of finding Chinese blood groups / 中国输血杂志

Up to now, hundreds of human blood groups have been detected globally, but none have been found in the Chinese population. China is a multi-ethnic country with rich genetic polymorphism and variation. The Chinese pangenome reference reveals that the Chinese carry some genetic variations that are different from other ethnic groups in the world, especially the discovery of approximately 5 million new base pair sequences, which are considered the core genome sequences of the Chinese population. Research on red blood cell membrane proteomics has shown that red blood cells carry over 2 600 kinds of erythrocyte membrane proteins, and currently only 37 protein molecules have detected blood group antigens. The above data suggest that the possibility of new blood group in the Chinese population cannot be ruled out. This comment describes the history of the discovery of blood groups and the challenges faced by Chinese scholars.

Effect of RHAG variants identified in Chinese population on RHAG mRNA splicing in vitro / 中国输血杂志

【Objective】 To study the effect of RHAG variants identified in Chinese population on mRNA splicing by minigene splicing assay(MSA) in vitro. 【Methods】 The pSplicePOLR2G minigene expression plasmids were constructed for 10 RHAG mutations with relatively high distribution frequency in Chinese population near splicing sites or synonymous mutations by analyzing the RHAG gene data in the KMxD database. Then, the wild-type and mutant plasmids were transfected into HEK 293T cells, and RNA was extracted 48 hours after transfection. After reverse transcription, specific primers were used for PCR amplification, and then agarose gel electrophoresis and capillary electrophoresis were performed to determine whether the mutations will affect the normal splicing of exons. 【Results】 MSA in vitro showed that 2 mutations (c.158-5delT, c. 807+ 3A>C) near the splicing site reduced the amount of normal transcripts slightly. The remaining 8 synonymous mutations(c.312G>A, c. 341+ 3G>A, c. 609C>T, c. 681G>A, c. 861G>A, c. 957T>A, c. 984T>C and c. 1139-7G>A) had no impact on the splicing of RHAG mRNA. 【Conclusion】 This study showed that RHAG gene was conservative in terms of splicing, and the mutations near splicing sites and synonymous mutations were less likely to cause abnormal splicing of RHAG gene.

Greenspace and health outcomes in Chinese population / 环境与职业医学

Greenspace may bring benefits to human health. Evidence on greenness and health has accumulated in western countries, and several reviews have summarized such evidence. Researchers have also conducted some studies on greenspace and human health in Chinese population, but no prior review has pooled or summarized them. To provide more comprehensive evidence on this topic, we searched and summarized studies on greenspace and health that were conducted specifically in Chinese population. We found that a certain number of studies have been conducted in China, and the evidence indicates that greenspace exposure may reduce the odds of cardiovascular diseases, mental health disorders, adverse birth outcomes as well as mortality. However, most of the current reported studies were of cross-sectional design or randomized controlled trails targeting short-term effects, and prospective cohort studies were scarce. Moreover, greenness exposure was mainly assessed using greenness index like normalized difference vegetative index (NDVI), which were static and cannot distinguish construction and species of greenspaces. Future prospective studies with more precise greenness exposure assessment are warranted to evaluate the prior findings.

Analysis of the factors contributing to endometriosis in China and UK / 南方医科大学学报

OBJECTIVE@#To explore the differences in the factors associated with endometriosis between Chinese and British patients.@*METHODS@#This case-control study was conducted in 387 patients with endometriosis and 199 non-endometriosis patients admitted to John Radcliffe Hospital (Oxford, UK) and in 101 patients with endometriosis and 50 non-endometriosis patients admitted in the First Affiliated Hospital of Guangzhou University of Chinese Medicine. The clinical data including height, weight, body mass index, marital status, employment, menstruation, fertility, and operation reasons were collected via a standardized WERF EPHect questionnaire.@*RESULTS@#Multivariate logistic regression analysis indicated that body mass index, surgery for dysmenorrhea, history of pregnancy, counts of previous surgeries for endometriosis and status of employment were all significantly associated with endometriosis in the UK (P < 0.05), while a history of dysmenorrhea was significantly correlated with endometriosis in Chinese patients (P < 0.05).@*CONCLUSION@#Dysmenorrhea may be the most important common factor associated with endometriosis in China and the UK, but the other factors contributing to endometriosis may differ between these two countries.

The Use of Lipoprotein-Associated Phospholipase A2 in a Chinese Population to Predict Cardiovascular Events / 生物医学与环境科学（英文）

Objective@#To explore associations between lipoprotein-associated phospholipase A2 (Lp-PLA2) and the risk of cardiovascular events in a Chinese population, with a long-term follow-up.@*Methods@#A random sample of 2,031 participants (73.6% males, mean age = 60.4 years) was derived from the Asymptomatic Polyvascular Abnormalities Community study (APAC) from 2010 to 2011. Serum Lp-PLA2 levels were determined by enzyme-linked immunosorbent assay (ELISA). The composite endpoint was a combination of first-ever stroke, myocardial infarction (MI) or all-cause death. Lp-PLA2 associations with outcomes were assessed using Cox models.@*Results@#The median Lp-PLA2 level was 141.0 ng/mL. Over a median follow-up of 9.1 years, we identified 389 events (19.2%), including 137 stroke incidents, 43 MIs, and 244 all-cause deaths. Using multivariate Cox regression, when compared with the lowest Lp-PLA2 quartile, the hazard ratios with 95% confidence intervals for developing composite endpoints, stroke, major adverse cardiovascular events, and all-cause death were 1.77 (1.24-2.54), 1.92 (1.03-3.60), 1.69 (1.003-2.84), and 1.94 (1.18-3.18) in the highest quartile, respectively. Composite endpoints in 145 (28.6%) patients occurred in the highest quartile where Lp-PLA2 (159.0 ng/mL) was much lower than the American Association of Clinical Endocrinologists recommended cut-off point, 200 ng/mL.@*Conclusion@#Higher Lp-PLA2 levels were associated with an increased risk of cardiovascular event/death in a middle-aged Chinese population. The Lp-PLA2 cut-off point may be lower in the Chinese population when predicting cardiovascular events.

A meta-analysis of factors influencing the development of gastric cancer in Chinese populations / 预防医学

Objective@# To investigate the factors influencing the development of gastric cancer in Chinese populations, so as provide insights into creating a model for predicting gastric cancer incidence among Chinese populations.@*Methods@#The case-control and cohort studies pertaining to factors affecting the development of gastric cancer were retrieved in electronic Chinese and English databases, including CNKI, Wanfang Data, VIP, PubMed, Web of Science and Embase from their inception until September 30, 2021. A meta-analysis was performed using R package version 4.1.0. Sensitivity analysis was performed using the “leave-one-out” evaluation procedure, and the publication bias was evaluated using the Egger regression test and the trim-and-fill procedure. @*Results@# A total of 5 301 publications were screened and 116 eligible studies were included in the final analysis, including 103 case-control studies and 13 cohort studies, which covered approximately 3.23 million study subjects. A total of 45 factors affecting the development of gastric cancer were collected, and there were less than 4 publications reporting 7 factors, which were only qualitatively described. There were 38 factors included in the final meta-analysis. A total of 21 factors were identified as risk factors of gastric cancer, including a history of gastrointestinal diseases (pooled OR=4.85, 95%CI: 3.74-6.29), H. pylori infection (pooled OR=3.18, 95%CI: 2.35-4.32), binge eating and drinking (pooled OR=2.88, 95%CI: 2.09-3.97) and a family history of tumors (pooled OR=2.78, 95%CI: 2.17-3.56), and 10 factors as protective factors, including vegetable intake (pooled OR=0.48, 95%CI: 0.38-0.61), tea consumption (pooled OR=0.55, 95%CI: 0.47-0.64), administration of aspirin (pooled OR=0.53, 95%CI: 0.31-0.92) and administration of statins (pooled OR=0.59, 95%CI: 0.44-0.80). Sensitivity analyses of eating moldy food frequently, white meat intake, favoring spicy food and administration of sulfonylureas were not robust. Following correction with the trim-and-fill procedure, there was still a publication bias pertaining to high income, diabetes, administration of stains, alcohol consumption, tea consumption and white meat intake.@*Conclusions@# The development of gastric cancer is associated with a medical history of gastrointestinal disease, H. pylori infection, family history of tumors and poor dietary habits. Risk and protective factors of gastric cancer are recommended to be included in models used to predict gastric cancer incidence among Chinese populations.

Meta-analysis of relationship between short-term ozone exposure and population mortality in China / 环境与职业医学

Background In recent years, our country's atmospheric particulate matter pollution has improved significantly, while ozone (O3) pollution has become increasingly serious. As a secondary pollutant, O3 is closely related to human health. Objective To study the effect of short-term exposure to ozone in ambient air on population mortality in China. Methods A computer search with key words of "ozone or O3", "death", and "time series" in Chinese or "ozone", "mortality", and "China" in English was performed in Web of Science, PubMed, China National Knowledge Infrastructure, Wanfang, and VIP databases to find literature on effects of short-term ozone exposure on population mortality covering a time period from January 1, 1990 to December 31, 2021. According to a set of inclusion and exclusion criteria developed for this study, literaturescreening, quality evaluation, andrelevant data extraction were carried out. Finally, R 4.1.2 software was used to perform meta-analysis to estimate target effect sizes. Results A total of 978 articles were retrieved. According to the inclusion and exclusion criteria, 18 articles were finally included, including 39 effect size estimates. The results showed that every 10 μɡ·m−3 increase in ambient ozone concentration was associated with an increase of 0.45% (95%CI: 0.39%-0.51%), 0.50% (95%CI: 0.33%-0.68%), and 0.60% (95%CI: 0.48%-0.72%) in total, respiratory, and cardiovascular disease mortalities , respectively. The results of subgroup analysis by age, sex, and season showed that when ozone concentration increased 10 μɡ·m−3, an increase of 0.34% (95%CI: 0.17%-0.51%) in mortality was observed in the ≥ 65-year-old population, higher than 0.09% (95%CI: −0.21%-0.39%) increase in the <65-year-old population; the mortality increase in females [0.44% (95%CI: 0.30%-0.58%)] was greater than that in males [0.35% (95%CI: 0.22%-0.48%)]; compared with the warm season [0.29% (95%CI: 0.16%-0.42%)], mortality increase was higher in the cold season [1.03% (95%CI: 0.71%-1.35%)]. Conclusion Ambient ozone is an important factor affecting population mortality. The elderly and women ≥ 65 years old in China are more sensitive to ozone, and the impact of ozone exposure on population mortality is greater in cold season.

The distribution characteristics of Rh phenotype and haplotype frequency in Qingdao: An analysis based on some patients and local blood donors / 中国输血杂志

【Objective】 To investigate the distribution characteristics of Rh blood group antigen phenotypes, haplotypes and irregular antibodies between patients in our hospital and local blood donors, so as to ensure safe and effective blood transfusion and improve the rationality and scientificity of clinical blood transfusion. 【Methods】 A total of 113 326 blood samples, from hospitalized patients in our hospital and local blood donors from October 2015 to March 2020, were subjected to Rh antigen typing and irregular antibody detection. The frequency of Rh phenotypes, haplotypes, and irregular antibodies were retrospectively analyzed and calculated. Chi square test was used to compare the data among different population groups. Rh antigen typing and irregular antibody detection were completed using the automatic blood group analyzer. 【Results】 The prevalence of negative RhD was 0.36% (408/113 326). The most prevalent Rh phenotype was DCCee [40.69%(46 112/ 113 326)] followed by DCcEe [36.82%(41 727/ 113 326)]. Anti-E was the most common irregular antibody, accounting for [0.26%(295/ 113 326)], and DCe [62.51%(70 840/ 113 326)] was the most common haplotype. The most common Rh phenotypes and haplotypes in Caucasians in Germany, North Indian and North African were DCcee, DCCee and Dccee, while DCe, DCe and Dce, respectively. 【Conclusion】 The distribution characteristics of Rh phenotypes, haplotypes and irregular antibodies of patients in our hospital and local blood donors were in line with the distribution characteristics of the population in northern China. Corresponding plans concerning blood storage and collection, as well as the establishment of Rh blood type registry should be carried to effectively ensure the safety, rationality and accuracy of clinical blood transfusion.

Relationship of gender and age on thyroid hormone parameters in a large Chinese population

ABSTRACT Objective This study aimed to present the impact of age and gender on thyroid hormone levels in a large Chinese population with sufficient iodine intake. Subjects and methods A total of 83643 individuals were included and were stratified by age and gender. The median, 2.5th and 97.5th of thyrotropin (TSH), free triiodothyronine (FT3), free thyroxine (FT4) and FT3/FT4 ratio were calculated for both genders for every decade from 18 to over 80 years. TSH, FT3, FT4, FT3/FT4 distribution in each age group was evaluated for females and males using smoothing splines in the generalized additive models (GAM). TSH concentrations were compared in the different age groups in gender. Results In the over 80s age group, the TSH level (median: 2.57 mIU/L, 2.5th-97.5th: 0.86-7.56 mIU/L) was significantly higher than other age groups, irrespective to gender (P<0.001). Females had a higher TSH value than males in all age groups (P<0.001). Results of the smoothing curves showed that TSH increased with age, FT3 concentration was higher in males than in females and the tendency of the FT3/FT4 ratio was basically similar to that of FT3. TSH concentration in the 50s age group (median 2.48 mIU/L for females versus 2.00 mIU/L for males) was significantly higher than that in the 30s age group (median 2.18 mIU/L for females versus median 1.85 mIU/L for males). Conclusions In accord with increasing TSH values during aging, females and older adults have lower FT3 values and lower FT3/FT4 ratios, while the FT4 values remain stable.

Relationship between educational level and long-term changes of body weight and waist circumference in adults in China / 中华流行病学杂志

Objective To evaluate the association of educational level with anthropometric measurements at different adult stages and their long-term changes in adults who participated in the second re-survey of China Kadoorie Biobank (CKB).Methods The present study excluded participants who were aged ＞65 years,with incomplete or extreme measurement values,or with major chronic diseases at baseline survey or re-survey.The weight at age 25 years was self-reported.Body height,body weight and waist circumference at baseline survey (2004-2008) and re-survey (2013-2014) were analyzed.Results The present study included 3 427 men and 6 320 women.Both body weight and waist circumference (WC) increased with age.From age 25 years to baseline survey (mean age 45.2 ± 6.5),the mean weight change per 5-year was (1.70 ± 2.63) kg for men and (1.27 ± 2.10) kg for women.From baseline survey to re-survey (53.2± 6.5),the mean changes per 5-year for body weight were (1.12±2.61) kg for men and 0.90±2.54) kg for women;and that for WC was (3.20±3.79) cm for men and (3.83 ± 3.85) cm for women.Among women,low educational level was consistently associated with higher body mass index (BMI) and WC at age 25 years,baseline survey and re-survey.Among men,low educational level was associated with higher BMI at age 25 years.At baseline survey and re-survey,the educational level in men was not statistically associated with BMI;but men who completed junior or senior high school showed slight higher WC and increase of WC from baseline survey to re-survey than other male participants.Conclusions Body weight and WC increased with age for both men and women.The associations of educational level with BMI and WC were different between men and women.

Effect of Apolipoprotein E Genotypes on Huntington's Disease Phenotypes in a Han Chinese Population / 神经科学通报·英文版

Huntington's disease (HD) is an autosomal dominant degenerative disease that mainly encompasses movement, cognition, and behavioral symptoms. The apolipoprotein E (APOE) gene is thought to be associated with many neurodegenerative diseases. Here, we enrolled a cohort of 223 unrelated Han Chinese patients with HD and 1241 unrelated healthy controls in Southeastern China and analyzed the correlation between APOE genotypes and HD phenotypes. The results showed that the frequency of the E4 allele (7.1%) in HD patients was statistically less than that in controls (12.0%) (P =0.004). In addition, we divided patients into motor-onset and non-motor-onset groups, and analyzed the relationship with APOE genotypes. The results, however, were negative. Furthermore, the age at onset (AAO), defined as the age at the onset of motor symptoms, was compared in each APOE genotype subgroup and multivariate regression analysis was used to exclude the interference of CAG repeat length on AAO, but no association was found between APOE genotypes and AAO. Finally, we analyzed adult-onset HD to exclude the interference caused by juvenile HD (n = 13), and the results were negative. Therefore, our study suggests that APOE may not be a genetic modifier for HD, especially for adult-onset HD among Chinese of Han ethnicity. To the best of our knowledge, this is the first study of the correlation between APOE genotypes and HD phenotypes in a Han Chinese population.

Protocol of Jidong Women Health Cohort Study: Rationale, Design, and Baseline Characteristics / 生物医学与环境科学（英文）

OBJECTIVE@#The Jidong Women Health Cohort Study is a prospective cohort study on female-specific characteristics and risks of chronic diseases in Chinese women and focuses on the potential association between menopause and risks of cardiovascular disease (CVD).@*METHODS@#The study includes 4,179 female participants with an age of older than 18 years from Caofeidian district, Tangshan city, northern China. Baseline information on female-specific characteristics and potential cardiovascular risk factors was collected and all the participants underwent a physical examination with blood samples collected in 2013. To establish a better risk assessment tool of female CVD, updated information from questionnaire investigation, physical examinations and occurrence of outcome events will be collected through a longitudinal follow-up annually up to the year 2024.@*RESULTS@#At baseline, Mean age of the participants was 42.3 ± 12.8 years. Reproduction occurred in 2,948 participants (70.5%), menopausal transition in 173 (4.3%), and postmenopause in 1,058 (25.3%). The incidence of arterial hypertension, dyslipidemia, and diabetes showed significant difference across different groups stratified by Stage of Reproductive Aging Workshop (STRAW) system (P < 0.05).@*CONCLUSION@#The Jidong Women Health Cohort Study will contribute to the scientific evidence on association between female-specific characteristics and cardiovascular risks, and will also be helpful to provide a new path for early detection and prevention of CVD.

Relationship between educational level and long-term changes of body weight and waist circumference in adults in China / 中华流行病学杂志

Objective To evaluate the association of educational level with anthropometric measurements at different adult stages and their long-term changes in adults who participated in the second re-survey of China Kadoorie Biobank (CKB).Methods The present study excluded participants who were aged ＞65 years,with incomplete or extreme measurement values,or with major chronic diseases at baseline survey or re-survey.The weight at age 25 years was self-reported.Body height,body weight and waist circumference at baseline survey (2004-2008) and re-survey (2013-2014) were analyzed.Results The present study included 3 427 men and 6 320 women.Both body weight and waist circumference (WC) increased with age.From age 25 years to baseline survey (mean age 45.2 ± 6.5),the mean weight change per 5-year was (1.70 ± 2.63) kg for men and (1.27 ± 2.10) kg for women.From baseline survey to re-survey (53.2± 6.5),the mean changes per 5-year for body weight were (1.12±2.61) kg for men and 0.90±2.54) kg for women;and that for WC was (3.20±3.79) cm for men and (3.83 ± 3.85) cm for women.Among women,low educational level was consistently associated with higher body mass index (BMI) and WC at age 25 years,baseline survey and re-survey.Among men,low educational level was associated with higher BMI at age 25 years.At baseline survey and re-survey,the educational level in men was not statistically associated with BMI;but men who completed junior or senior high school showed slight higher WC and increase of WC from baseline survey to re-survey than other male participants.Conclusions Body weight and WC increased with age for both men and women.The associations of educational level with BMI and WC were different between men and women.

Analysis of physique types and their causes of modern Chinese population by head-to-face measurements / 解剖学报

Objective: To review the physical characteristics in modern Chinese populations, and to exploring the relationships between physical traits and the geo-environmental factors. Methods: This paper took the principal component and cluster analysis of the craniofacial physical characters of 134 populations in China (65 Han nationalities, 59 minority nationalities and 10 unidentified populations) with 15 measurements. We also focused the linear relationship between the craniofacial measurements and 8 geo-environmental factors. Results: The physical characteristics of Modern Chinese was divided into the northern and southern groups: North Han was close to north minority nationalities; Han nationalities were close to each other in southern region, as well as the minority nationalities. In addition, the physiognomic ear length and physiognomic ear breadth decreased when the annual mean temperature increases, which was not consistent with Allen's rule. Conclusion: The differentiation of northern and southern Chinese population is a result of the physical adaptation which may be caused by the selective pressures under different regional environments. And the north-south demarcation zone (Qinling mountain - Huaihe river) can be considered as the most suitable boundary between the southern and northern Chinese.

Comparison of Proximal Femoral Geometry and Risk Factors between Femoral Neck Fractures and Femoral Intertrochanteric Fractures in an Elderly Chinese Population / 中华医学杂志(英文版)

<p><b>Background</b>Few studies have investigated the differences in proximal femoral geometry and risk factors between patients with different types of hip fracture, especially in elderly Chinese. This study aimed to assess the differences in proximal femoral geometry parameters between patients with femoral neck fractures and patients with intertrochanteric fractures to provide guidance for individualized customized prosthesis and accurate reconstruction of proximal femurs in elderly Chinese patients.</p><p><b>Methods</b>We retrospectively studied the electronic medical records of 198 elderly patients over 65 years of age who were admitted to the orthopedic department with hip fractures between January 2017 and December 2017 in The Third Hospital, Hebei Medical University. Age, fracture site, gender, and proximal femoral geometry parameters (neck shaft angle [NSA], center edge angle [CEA], femoral head diameter [FHD], femoral neck diameter [FND], femoral neck axial length [FNAL], hip axial length [HAL], and femoral shaft diameter [FSD]) were recorded. Student's t-test was used to compare the continuous variables, Chi-square test was used to analyze categorical variables, and multiple logistic stepwise regression analysis was used to evaluate the influencing factors of hip fracture type.</p><p><b>Results</b>Statistically significant differences in NSA (137.63 ± 4.56° vs. 132.07 ± 4.17°, t = 1.598, P < 0.001), CEA (37.62 ± 6.77° vs. 43.11 ± 7.09°, t = 5.597, P < 0.001), FND (35.21 ± 3.25 mm vs. 34.09 ± 3.82 mm, t = 2.233, P = 0.027), and FNAL (99.30 ± 7.91 mm vs. 103.58 ± 8.39 mm, t = 3.715, P < 0.001) were found between the femoral neck fracture group and femoral intertrochanteric fracture group. FHD, FND, FSD, HAL, and FNAL were different between sexes (all P < 0.001). The greater NSA was the risk factor for femoral neck fractures (odds ratio [OR]: 0.70, P < 0.001), greater CEA and longer FNAL were risk factors for femoral intertrochanteric fractures (OR: 1.15, 1.17, all P < 0.001), and greater FND was a protective factor for femoral intertrochanteric fractures (OR: 0.74, P < 0.001).</p><p><b>Conclusions</b>We demonstrate differences in geometric morphological parameters of the proximal femur in different hip fracture types, as well as an effect of sex. These differences should be considered in the selection of prostheses for fracture internal fixation and hip replacements. These data could help guide the design of individualized customized prostheses and improve the accurate reconstruction of the proximal femur for elderly Chinese hip fracture patients.</p>

CCGD-ESCC: A Comprehensive Database for Genetic Variants Associated with Esophageal Squamous Cell Carcinoma in Chinese Population / 基因组蛋白质组与生物信息学报·英文版

Esophageal squamous-cell carcinoma (ESCC) is one of the most lethal malignancies in the world and occurs at particularly higher frequency in China. While several genome-wide association studies (GWAS) of germline variants and whole-genome or whole-exome sequencing studies of somatic mutations in ESCC have been published, there is no comprehensive database publically available for this cancer. Here, we developed the Chinese Cancer Genomic Database-Esophageal Squamous Cell Carcinoma (CCGD-ESCC) database, which contains the associations of 69,593 single nucleotide polymorphisms (SNPs) with ESCC risk in 2022 cases and 2039 controls, survival time of 1006 ESCC patients (survival GWAS) and gene expression (expression quantitative trait loci, eQTL) in 94 ESCC patients. Moreover, this database also provides the associations between 8833 somatic mutations and survival time in 675 ESCC patients. Our user-friendly database is a resource useful for biologists and oncologists not only in identifying the associations of genetic variants or somatic mutations with the development and progression of ESCC but also in studying the underlying mechanisms for tumorigenesis of the cancer. CCGD-ESCC is freely accessible at http://db.cbi.pku.edu.cn/ccgd/ESCCdb.

Association between MFN2 gene polymorphisms and the risk and prognosis of acute liver failure: a case-control study in a Chinese population

This study aimed to determine the role of mitofusin 2 (MFN2) gene polymorphisms in the risk and prognosis of acute liver failure (ALF). A total of 298 blood samples were collected from 138 ALF patients (case group) and 160 healthy participants (control group). Coagulation function, glutamic pyruvic transaminase (GPT), glutamic oxaloacetic transaminase (GOT), total bilirubin (TB), blood ammonia and lactic acid (LA) were measured. The predictive evaluation of MFN2 gene polymorphisms in the risk and prognosis of ALF patients was estimated using Kaplan-Meier survival analysis, haplotype analysis, binary logistic regression analysis and Cox regression analysis. Higher levels of GPT, GOT, TB, blood ammonia and LA were observed in ALF patients with the GG genotype of rs873457 or the TT genotype of rs4846085 than in those with the CC genotype of these two SNPs. The GTACAGC and GTGTGGC haplotypes were a protective factor and a risk factor for ALF, respectively. Blood ammonia and LA levels were independent risk factors and the CC genotype of rs873457 and the CC genotype of rs4846085 were protective factors for ALF. ALF patients with the GG genotype of rs873457 or the TT genotype of rs4846085 had a lower survival rate than those with other genotypes of these two SNPs. The rs4846085 and rs873457 polymorphisms were both independent factors affecting the prognosis of ALF patients. MFN2 gene polymorphisms (rs873457, rs2336384, rs1474868, rs4846085 and rs2236055) may be associated with ALF and the rs873457 and rs4846085 polymorphisms are correlated with the risk and prognosis of ALF.

Association of the single nucleotide polymorphisms in the calcitonin receptor-like receptor gene with primary angle closure in a Han Chinese population / 国际眼科杂志(Guoji Yanke Zazhi)

?AIM: To study the association of the single nucleotide polymorphism ( SNP) rs1157699 in the calcitonin receptor-like receptor ( CRLR ) gene with primary angle closure ( PAC) in a Han Chinese population.?METHODS: All samples, involved 232 PAC cases and 306 controls, were obtained from an epidemiologic survey conducted in Funing, Jiangsu Province, China. Genotyping were carried out by TaqMan-MGB probe using the real time quantitative polymerase chain reaction system to study the relationship between SNP of rs1157699 in CRLR gene and PAC.?RESULTS: The prevalence of CRLRrs1157699 genotype was 67.4%, 30.0%, 2.6% for CC, CT, TT in cases, and 71.3%, 27.0%, 1.7% in controls respectively.There was no difference between the two groups in the distribution of genotype and allele frequencies of rs1157699 (P>0.05).?CONCLUSION:Our results do not support a significant role for rs1157699 in CRLR with PAC.

CDKAL1, KCNQ1, and IGF2BP2 are Identified as Type 2 Diabetes Susceptibility Genes in a Regional Chinese Population.

Aims: Diabetes has become a major public health problem in China. Recent advances in genetic studies have identified numerous susceptibility loci for type 2 diabetes (T2D). Current models to detect risk of T2D are largely based on studies from European populations; this study aims to replicate those efforts in a Chinese population from the Ningbo region in order to diversify and fortify risk models. Methodology: We successfully genotyped 11 single nucleotide polymorphisms (SNPs) in 222 subjects with T2D and 140 subjects with normal glucose regulation in a population from the Ningbo region of China. Additive and dominant models were used to analyze the associations between SNPs and T2D. Results: Adjusting for age, triglycerides, total cholesterol, low density lipoprotein, and BMI in the dominant model, we identified three SNPs which were associated T2D: CDKAL1 (OR=2.29 [95%CI=1.25-4.19]), KCNQ1 (4.22 [1.79-9.99]), and IGF2BP2 (1.76 [1.06-2.94]). No significant association was found between T2D and SNPs from KCNJ11, PPARG, TCF7L2, SALC30A8, CDKN2B, HHEX, HNF1β, and WFS1. Conclusion: Our data indicates that in this population, CDKAL1, KCNQ1, and IGF2BP2 are T2D susceptibility genes.