Effectiveness of fecal DNA syndecan-2 methylation testing for detection of colorectal cancer in a high-risk Chinese population

BACKGROUND Colorectal cancer(CRC)is among the most prevalent and life-threatening malignancies worldwide.Syndecan-2 methylation(mSDC2)testing has emerged as a widely used biomarker for early detection of CRC in stool and serum samples.Cancer(CRC)is among the most prevalent and life-threatening malignancies worldwide.mSDC2 testing has emerged as a widely used biomarker for early detection of CRC in stool and serum samples.AIM To validate the effectiveness of fecal DNA mSDC2 testing in the detection of CRC among a high-risk Chinese population to provide evidence-based data for the development of diagnostic and/or screening guidelines for CRC in China.METHODS A high-risk Chinese cohort consisting of 1130 individuals aged 40-79 years was selected for evaluation via fecal mSDC2 testing.Sensitivity and specificity for CRC,advanced adenoma(AA)and advanced colorectal neoplasia(ACN)were determined.High-risk factors for the incidence of colorectal lesions were determined and a logistic regression model was constructed to reflect the efficacy of the test.RESULTS A total of 1035 high-risk individuals were included in this study according to established criteria.Among them,16 suffered from CRC(1.55%),65 from AA(6.28%)and 189 from non-AAs(18.26%);150 patients were diagnosed with polyps(14.49%).Diagnoses were established based upon colonoscopic and pathological examinations.Sensitivities of the mSDC2 test for CRC and AA were 87.50%and 40.00%,respectively;specificities were 95.61%for other groups.Positive predictive values of the mSDC2 test for CRC,AA and ACN were 16.09%,29.89%and 45.98%,respectively;the negative predictive value for CRC was 99.79%.After adjusting for other high-risk covariates,mSDC2 test positivity was found to be a significant risk factor for the occurrence of ACN(P<0.001).CONCLUSION Our findings confirmed that offering fecal mSDC2 testing and colonoscopy in combination for CRC screening is effective for earlier detection of malignant colorectal lesions in a high-risk Chinese population.

The Association between Exposure to Second-Hand Smoke and Disease in the Chinese Population: A Systematic Review and Meta-Analysis

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.

Association of RELN promoter SNPs with schizophrenia in the Chinese population

Previous research on gene expression analysis and association tests have suggested that RELN is a risk gene for schizophrenia in world populations.Based on the reported down-regulation of RELN in schizophrenia patients compared with normal subjects,we speculated that variants in the RELN promoter region may confer risk for schizophrenia.In this study,we investigated the associations of three SNPs in the promoter region of RELN with schizophrenia in a case-control sample from southwestern China（940 cases and 13 69 controls）.The results suggested that none of the SNPs showed significant associations in our sample,indicating the risk variants for schizophrenia in RELN may not be located in the promoter region.We also performed meta-analysis by combining our data with previously reported data on the Chinese population with a total sample size of 2 843 individuals,and the result remained nonsignificant.Collectively,our results suggested variants in the RELN promoter may not harbor risk SNPs associated with schizophrenia in the Chinese population.

The Use of Lipoprotein-Associated Phospholipase A2 in a Chinese Population to Predict Cardiovascular Events

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/m L.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 with95%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/m L)was much lower than the American Association of Clinical Endocrinologists recommended cut-off point,200 ng/m L.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.

Risk factors and metabolic abnormality of patients with non-alcoholic fatty liver disease: Either non-obese or obese Chinese population

Background: Non-alcoholic fatty liver disease(NAFLD) occurs not only in obese individuals but also in non-obese ones. The aim of this study was to focus on the association between NAFLD and metabolic events in a non-obese or obese Chinese population.Methods: Data collected from subjects registered at Taichung Veterans General Hospital from January to December 2009 were analyzed. The exclusion criteria were alcoholics, chronic hepatitis B or C. Patients included in analyses were assigned to four groups according to sonography of their liver(normal or NAFLD), and body mass index(BMI) levels(non-obese if BMI < 25 kg/m~2 or obese if BMI ≥ 25 kg/m~2).Results: There were 745, 208, 770 and 285 patients enrolled in four groups labeled non-obese normal liver(group A), non-obese NAFLD(group B), obese normal liver(group C) and obese NAFLD(group D),respectively. The highest ratio of metabolic syndrome existed in the group B(26.9%), followed by group A(11.7%), group D(10.9%) and finally the group C(5.2%). The positive association with NAFLD in non-obese individuals was significant in triglyceride(OR = 1.01; 95% CI: 1.01–1.02) and glucose(OR = 1.02; 95% CI:1.01–1.03), while the positive association with NAFLD in obese subjects was only significant in triglyceride(OR = 1.01; 95% CI: 1.01–1.02). The positive association was most significant in all cases(adjusted OR = 2.41; 95% CI: 1.78–3.24), especially in non-obese individuals(OR = 2.81; 95% CI: 1.92–4.12).Conclusions: Non-obese NAFLD subjects displayed a higher proportion of metabolic abnormality. Hyperlipidemia and hyperglycemia had the most positive strength association with NAFLD.

Association between High Fat-low Carbohydrate Diet Score and Newly Diagnosed Type 2 Diabetes in Chinese Population

Objective To study the association between high fat-low carbohydrate diet score and newly diagnosed type 2 diabetes in Chinese population. Methods Data about 20 717 subjects aged 45-59 years from the cross-sectional 2002 China National Nutrition and Health Survey were analyzed. High fat-low carbohydrate diet was scored according to the energy of carbohydrate, fat, and protein. Results Of the 20 717 subjects, 1 332 were diagnosed with hyperglycemia and 662 were newly diagnosed with type 2 diabetes. Multivariate adjusted analysis showed that the highest score of type 2 diabetes patients was 2.75 （95% CI： 2.09-3.61）. The score of type 2 diabetes patients was 1.87 （95% CI： 1.35-2.58） after further adjustment for their socioeconomic status and physical activity. No significant difference was found in the odds ratio after further adjustment for BMI, blood pressure, lipid level, and energy intake. No evidence was observed for the relation between high fat-low carbohydrate-diet score in type 2 diabetes patients due to high family income, less education, physical activity, overweight, hypertension, high TG, or low HDL level. Conclusion High fat-low carbohydrate diets, far different from traditional Chinese diets, are associated with the high incidence of type 2 diabetes in Chinese population.

Etiology, Pathology, Management and Prognosis of Chronic Pancreatitis in Chinese Population: A Retrospective Study

The purpose of this study was to investigate the etiology, pathological characteristics, management and prognosis of chronic pancreatitis in the Chinese population. The clinical data of 142 patients with chronic pancreatitis were retrospectively studied. All patients were of Chinese nationality and hospitalized from January 2008 to December 2011. Their ages ranged from 14 to 76 years, with a mean of 43 years. Of 142 patients, there were 72 cases of obstructive chronic pancreatitis（50.70%）, 19 cases of alcoholic chronic pancreatitis（13.38%）, 14 cases of autoimmune pancreatitis（9.86%） and 37 cases of undetermined etiology（26.06%）. Pathologically, the average inflammatory mass diameter was 3.8±3.3 cm, biliary obstruction occurred in 36 cases, gall stones in 70 cases, calcification in 88 cases, ductal dilatation in 61 cases, side branch dilatation in 32 cases, ductal irregularity in 10 cases, lymphocytic inflammation in 23 cases, obliterative phlebitis in 14 cases, extra pancreatic lesion in 19 cases and fibrosis in 142 cases. Location of pancreatic lesion in the region of head（n=97）, neck（n=16）, body（n=12）, tail（n=15） and whole pancreas（n=2） influenced the choice of surgical procedures. Ninety-four patients（66.20%） received surgical treatment and 33.80% received other treatments. After operation, 80.85% of 94 patients experienced decreased pain, and 8.51% of 94 showed recovery of endocrine function but with a complication rate of 12.77%. All the operations were performed successfully. According to the pain scale of European Organization for Research and Treatment of Cancer（QLQ-C30） a decrease from 76±22 to 14±18 was observed. Etiology, pathological characteristics, management and prognosis of chronic pancreatitis in the Chinese population vary from others.

Interleukin-8 gene polymorphism is associated with acute coronary syndrome in a Han Chinese population

Background Acute coronary syndrome(ACS) is one of the most common forms of heart diseases.Recent studies have revealed that interleukin(IL)-8 plays a kev role in the development of atherosclerosis plaque and its complications, but the relationship of its common variants with ACS has not been extensively studied.Methods We tested the hypothesis that variants in IL-8-251 A/T was associated with susceptibility to ACS and its recurrence in a Chinese case-control study comprising 675 patients with ACS and 636 control subjects and replicated the investigation in an independent study comprising 360 cases and 360 control subjects. The plasma concentration of IL-8 was measured by enzyme-linked immunosorbent assay.Results IL-8 -251A】T poly-morphism was associated with increased susceptibility to ACS (P=0.004;OR=1.30 CI:1.12-1.53).Replication in the second study yielded similar results.IL-8 -251 A/T may affect the expression of IL-8 by the evidence that augmented IL-8 production revealed in serum of the AMI patients by ELISA. Conclusions IL-8 -251 A/T polymorphism is associated with ACS risk in Chinese Han population and An allele of IL-8- 251A/T may be an independent predictive factor.

Risk factors for acute kidney injury following coronary artery bypass graft surgery in a Chinese population and development of a prediction model

BACKGROUND Acute kidney injury(AKI)after coronary artery bypass graft(CABG)surgery is associated with significant morbidity and mortality.This retrospective study aimed to establish a risk score for postoperative AKI in a Chinese population.METHODS A total of 1138 patients undergoing CABG were collected from September 2018 to May 2020 and divided into a derivation and validation cohort.AKI was defined according to the Kidney Disease Improving Global Outcomes(KDIGO)criteria.Multivariable logistic regression analysis was used to determine the independent predictors of AKI,and the predictive ability of the model was determined using a receiver operating characteristic(ROC)curve.RESULTS The incidence of cardiac surgery–associated acute kidney injury(CSA-AKI)was 24.17%,and 0.53%of AKI patients required dialysis(AKI-D).Among the derivation cohort,multivariable logistic regression showed that age≥70 years,body mass index(BMI)≥25 kg/m2,estimated glomerular filtration rate(eGFR)≤60 mL/min per 1.73 m2,ejection fraction(EF)≤45%,use of statins,red blood cell transfusion,use of adrenaline,intra-aortic balloon pump(IABP)implantation,postoperative low cardiac output syndrome(LCOS)and reoperation for bleeding were independent predictors.The predictive model was scored from 0 to32 points with three risk categories.The AKI frequencies were as follows:0-8 points(15.9%),9-17 points(36.5%)and≥18 points(90.4%).The area under of the ROC curve was 0.730(95%CI:0.691-0.768)in the derivation cohort.The predictive index had good discrimination in the validation cohort,with an area under the curve of 0.735(95%CI:0.655-0.815).The model was well calibrated according to the Hosmer-Lemeshow test(P=0.372).CONCLUSION The performance of the prediction model was valid and accurate in predicting KDIGO-AKI after CABG surgery in Chinese patients,and could improve the early prognosis and clinical interventions.

Association of PPARγand AGTR1 Polymorphisms with Hypertriglyceridemia in Chinese Population

Hypertriglyceridemia （HTG） is an important metabolic disease and strongly associated with the development of hypertension, atherosclerosis,coronary artery disease, and type 2 diabetes mellitus（T2DM）. HTG risk is affected by various factors and might occur owing to the complex synergistic interaction between the genetic background and environmental factors;.

SLC26A4 gene polymorphism and late-onset Alzheimer’s disease in a Han Chinese population from Qingdao,China

In a recent genome-wide association study, the SLC26A4 gene rs2072064 polymorphism was found to be associated with late-onset Alzheimer＇s disease in Caucasians. Here, we investigated this association in a large Northern Han Chinese cohort consisting of 599 sporadic late-onset Alzheimer＇s disease patients and 598 healthy controls matched for sex and age in a Northern Han Chinese population from Qingdao, China. Genotyping by the polymerase chain reaction-ligase detection reaction revealed that there were significant differences in the genotype （P = 0.017） and allele （P = 0.007） frequencies of the rs2072064 polymorphism between late-onset Alzheimer＇s disease patients and controls. The A allele of this polymorphism was significantly associated with a reduced risk of late-onset Alzheimer＇s disease （odds ratio （OR） = 0.792, 95% confidence interval （CI） = 0.670-0.937, P = 0.007）. When the data were stratified by the apolipoprotein E E4 status, there was a significant difference only among apolipoprotein E E4 non-carriers （genotypic P = 0.001, allelic P = 0.001）. Furthermore, the association between rs2072064 and late-onset Alzheimer＇s disease remained significant by logistic regression analysis after adjustment for age, gender, and the apolipoprotein E E4 carrier status （dominant model： OR = 0.787, 95% CI = 0.619-1.000, P = 0.050; recessive model： OR = 0.655, 95% CI = 0.448-0.959, P= 0.030; additive model： OR = 0.792, 95% CI = 0.661-0.950, P = 0.012）. These findings suggest that SLC26A4 is a susceptibility gene for late-onset Alzheimer＇s disease in a Northern Han Chinese population from the Qingdao area.

Awareness of initiative practice for health in the Chinese population:A questionnaire survey based on a network platform

BACKGROUND In 2016,the Chinese government issued the Healthy China 2030 plan,which also produced the initiative practice for health(IPFH)concept.However,people’s knowledge and awareness of the IPFH are unclear.AIM To investigate awareness of IPFH in the Chinese population and explore the relevant influential factors.METHODS An internet-based self-designed questionnaire survey was used to collect respondents’demographic characteristics and awareness of health and the IPFH from March 26 to April 18,2020.IPFH consciousness was assessed by the scores for different related questions.The Student’s t test,the Chi-square test,and multiple logistic regression analysis were performed to analyze the differences and influencing factors.RESULTS A total of 2678 valid questionnaires were collected.Of the respondents,973(36.3%)had heard of the IPFH concept.In addition,89.5% of participants agreed with the view that the IPFH is beneficial to improving quality of life,and over half thought that a regular schedule,a reasonable diet,tobacco and alcohol control,a cheerful mood,specific life goals and plans,taking the initiative to accept health-related education and implement health knowledge,good interpersonal relationships,and regular physical examinations were closely related to the IPFH.The majority of respondents paid attention to their health and usually obtained health-related knowledge via social media and were also willing to promote the IPFH.Most of the participants underestimated the role of hospitals,family doctors,and health managers in promoting the IPFH.Age,monthly income,and medical-related work experience were the influencing factors for IPFH awareness.CONCLUSION The Chinese population has limited knowledge of the IPFH.People with strong IPFH awareness are older,earn more,and have medical-related work experience.

Mutations in GBA,SNCA,and VPS35 are not associated with Alzheimer's disease in a Chinese population:a case-control study

SNCA,GBA,and VPS35 are three common genes associated with Parkinson's disease.Previous studies have shown that these three genes may be associated with Alzheimer's disease(AD).However,it is unclear whether these genes increase the risk of AD in Chinese populations.In this study,we used a targeted gene sequencing panel to screen all the exon regions and the nearby sequences of GBA,SNCA,and VPS35 in a cohort including 721 AD patients and 365 healthy controls from China.The results revealed that neither common variants nor rare variants of these three genes were associated with AD in a Chinese population.These findings suggest that the mutations in GBA,SNCA,and VPS35 are not likely to play an important role in the genetic susceptibility to AD in Chinese populations.The study was approved by the Ethics Committee of Xiangya Hospital,Central South University,China on March 9,2016(approval No.201603198).

A comparative genomics analysis of lung adenocarcinoma for Chinese population by using panel of recurrent mutations

Previous studies have demonstrated that Chinese lung adenocarcinoma(LUAD)patients have unique genetic characteristics,however,the specific genomic features relating to the development and treatment of LUAD in the Chinese population are not fully understood.Here,we applied the ultra-deep targeted sequencing to 66 Chinese LUAD samples,accompanied by comparative analysis with 162 Caucasian LUAD in The Cancer Genome Atlas.We focused on the 68 recurrently mutated genes and results revealed that the panel-based tumor mutational burden(pTMB)is significantly higher in the Chinese LUAD(P=0.0017).Additionally,the percentage of smoking-associated C>A transversion is significantly lower in Chinese LUAD(15.5%vs.39.7%,P=5.69×10^(-27)),while C>T transition is more frequent in Chinese LUAD(35.8%vs.25.7%,P=2.67×10^(-5)),which indicated the ethnic difference in mutation types.Notably,novel driver genes(GNAS and JAK1)that are peculiar to Chinese LUAD were identified,and a more convergent distribution of mutations was observed in the Chinese cohort(P=0.012)compared with scattered mutations in Caucasian LUAD.Our results present a distinct genomic profile of Chinese LUAD compared to Caucasians LUAD and elucidate the ethnic difference in mutation distribution besides the type and rate.

The Genetic Deafness in Chinese Population

Deafness is an etiologically heterogeneous trait with many known genetic, environmental causes or a combination thereof. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing. However, recent findings indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in Chinese population are caused by a small number of mutations. This review is focused on syndromic and nonsyndromic deafness as well as on the latest information linking inherited mitochondrial pathologies to a variety of etiologies of sensorineural deafness in Chinese population. Better understanding of the genetic causes of deafness in Chinese population is important for accurate genetics counseling and early diagnosis for timely intervention and treatment options.

A nomogram of 5-year risk of type 2 diabetes in Chinese population

Objective:The aim of this study was to analyze the risk factors of type 2 diabetes in 5 years in Chinese population,and to construct the prediction model of nomogram and verify its validity.Methods:The physical examination and follow-up data of the participants who received physical examination at 32 sites in 11 cities in China from 2010 to 2016 were collected from the Dryad digital repository database.Randomly divided into modeling group(n=22936)and validation group(n=9830).In the modeling group,the independent risk factors were determined by single factor and multi factor analysis based on Cox regression model,and the nomogram prediction model was constructed by R software.The accuracy and performance of the model were evaluated by AUC value,C-index and calibration curve.Results:The multivariate regression model suggested that fasting blood glucose,triglyceride,smoking history and drinking history were independent risk predictors of 5-year risk of type 2 diabetes in Chinese population.In the modeling group,AUC was 0.776(95%CI:0.699-0.849),and C-index was 0.783(95%CI:0.706-0.856).Similarly,in the validation group,the AUC value was 0.743(95%CI:0.665-0.824),and the C-index was 0.764(95%CI:0.667-0.846),suggesting that the model had a good discrimination ability.The 5-year adjusted risk curve of type 2 diabetes in Chinese population suggests a good consistency between the predicted value and the actual value.Conclusion:The nomogram model can predict the 5-year risk of type 2 diabetes in Chinese population intuitively and accurately.

Association between the HOTAIR Polymorphism and Susceptibility to Lead Poisoning in a Chinese Population

This study explored the association between the lncRNA HOTAIR polymorphism and susceptibility to lead poisoning in a Chinese population. We speculated that lead poisoning caused elevated levels of oxidative stress, which, in turn, activate the HOTAIR gene to cause apoptosis. Three lncRNA HOTAIR tagSNPs（rs7958904, rs4759314, and rs874945） were genotyped by TaqM an genotyping technology in 113 lead-sensitive and 113 lead-resistant Chinese workers exposed to lead. Rs7958904 was significantly associated with susceptibility to lead poisoning（P = 0.047）. The rs7958904 G allele had a protective effect compared with the C allele and reduced the risk of lead poisoning（P = 0.016）. Rs7958904 may act as a potential biomarker for predicting the risk of lead poisoning and distinguishing lead-sensitive individuals from lead-resistant individuals.