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1.
Sleep Biol Rhythms ; 22(3): 323-331, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38962791

ABSTRACT

Sleep quality significantly affects the quality of life of older persons. Therefore, this study explored the relationship between sleep quality and living environment of older persons in China to provide a theoretical basis for therapies to alleviate sleep disorders in older persons. A total of 6211 subjects > 60 years of age in Anhui Province, China, were evaluated using the Pittsburgh Sleep Quality Index and a self-reported questionnaire. Multivariate logistic regression analysis revealed that living alone (OR = 1.26, 95% CI 1.09-1.46) and living in a rural area (OR = 1.19, 95% CI 1.06-1.34) were significantly associated with a high incidence of sleep disorders in older persons. Living near a park or foot paths suitable for exercise or walking was significantly associated with a lower incidence of sleep disorders in older persons (OR = 0.87, 95% CI 0.77-0.96). Individual factors such as female sex (OR = 1.30, 95% CI 1.14-1.48) and depression (OR = 2.80, 95% CI 2.47-3.19) were also associated with sleep quality in older persons. These data indicate a correlation exists between living environment and sleep quality.

3.
Heliyon ; 10(12): e33044, 2024 Jun 30.
Article in English | MEDLINE | ID: mdl-38988547

ABSTRACT

Purpose: To date, the relationship between Growth Differentiation Factor 15 (GDF-15) gene polymorphism and the risk of type 2 diabetes mellitus (T2DM) has not been clarified. Our study aims to explore the association between serum GDF-15 levels and related gene polymorphism with the risk of T2DM in a Chinese rural Yao population. Methods: This was a 1:1 case-control study with 179 T2DM patients and 179 age- and sex-matched control participants. Serum GDF-15 levels were measured by enzyme-linked immunosorbent assay, and polymorphisms (rs1059519, rs1059369, rs1804826 and rs1054564) were genotyped by MassArray mass spectrometry. Results: Serum GDF-15 (sGDF-15) levels were higher in patients with T2DM and glycosylated hemoglobin (HbA1c) ≥ 6.5 % compared to that in controls (p < 0.001). The area under the curve (AUC) corresponding to sGDF-15 levels was 0.626. Serum GDF-15 was positively correlated with fasting plasma glucose (FPG) (rs = 0.150, p < 0.001) and HbA1c (rs = 0.160, p < 0.001). The frequency of GDF-15 gene rs1054564 GC + CC genotype was significantly associated with increased risk of T2DM compared to GG genotype (OR = 1.724, 95CI: 1.046-2.841, p = 0.033). Frequencies of rs1804826 T allele (ß additive = 113.318, p = 0.026) and rs1054564 C allele (ß additive = 247.282, p = 0.001, ß dominant = 286.109, p = 0.001) was significantly correlated with higher sGDF-15. The rs1059519 C allele was negatively correlated with FPG (ß recessive = -0.607, p = 0.047) and HbA1c (ß recessive = -0.456, p = 0.020). Conclusion: Serum GDF-15 levels were positively correlated with FPG and HbA1c. The GDF-15 rs1054564 GC + CC genotype was associated with a significantly higher T2DM risk. The rs1059519 C allele was negatively correlated with FPG and HbA1c.

4.
Sci Rep ; 14(1): 14057, 2024 06 18.
Article in English | MEDLINE | ID: mdl-38890451

ABSTRACT

This study aimed to explore the mediating effects of ADL and depression on the relationship between sleep quality and HRQOL among older people in rural China, while also exploring the moderating impact of loneliness. The study gathered data from a household survey conducted among 1587 Chinese rural older adults (mean age = 73.63 years). The collected data was analyzed using SPSS version 23.0 software (IBM, New York, USA) and the PROCESS macro version 4.0 program. The findings indicated a significant correlation between sleep quality, ADL, depression, loneliness and HRQOL. ADL and depression exhibited a chain mediation effect on the relationship between sleep quality and HRQOL. Notably, the association between sleep quality and HRQOL was entirely mediated by ADL and depression. Additionally, loneliness acted as a moderator in the relationship between ADL and HRQOL. The findings of this study suggest that interventions focusing on sleep quality should prioritize strategies for enhancing older adults' ADL and depression as integral components of promoting older adults' HRQOL.


Subject(s)
Activities of Daily Living , Depression , Quality of Life , Sleep Quality , Humans , Aged , Depression/psychology , Male , Female , Aged, 80 and over , China/epidemiology , Loneliness/psychology , Middle Aged , Rural Population , Surveys and Questionnaires
5.
BMC Public Health ; 24(1): 1192, 2024 Apr 29.
Article in English | MEDLINE | ID: mdl-38679723

ABSTRACT

BACKGROUND: Exposure to heavy metals alone or in combination can promote systemic inflammation. The aim of this study was to investigate potential associations between multiple plasma heavy metals and markers of systemic immune inflammation. METHODS: Using a cross-sectional study, routine blood tests were performed on 3355 participants in Guangxi, China. Eight heavy metal elements in plasma were determined by inductively coupled plasma mass spectrometry. Immunoinflammatory markers were calculated based on peripheral blood WBC and its subtype counts. A generalised linear regression model was used to analyse the association of each metal with the immunoinflammatory markers, and the association of the metal mixtures with the immunoinflammatory markers was further assessed using weighted quantile sum (WQS) regression. RESULTS: In the single-metal model, plasma metal Fe (log10) was significantly negatively correlated with the levels of immune-inflammatory markers SII, NLR and PLR, and plasma metal Cu (log10) was significantly positively correlated with the levels of immune-inflammatory markers SII and PLR. In addition, plasma metal Mn (log10 conversion) was positively correlated with the levels of immune inflammatory markers NLR and PLR. The above associations remained after multiple corrections. In the mixed-metal model, after WQS regression analysis, plasma metal Cu was found to have the greatest weight in the positive effects of metal mixtures on SII and PLR, while plasma metals Mn and Fe had the greatest weight in the positive effects of metal mixtures on NLR and LMR, respectively. In addition, blood Fe had the greatest weight in the negative effects of the metal mixtures for SII, PLR and NLR. CONCLUSION: Plasma metals Cu and Mn were positively correlated with immunoinflammatory markers SII, NLR and PLR. While plasma metal Fe was negatively correlated with immunoinflammatory markers SII, NLR, and PLR.


Subject(s)
Biomarkers , Environmental Exposure , Inflammation , Metals, Heavy , Humans , China/epidemiology , Female , Middle Aged , Male , Inflammation/blood , Cross-Sectional Studies , Metals, Heavy/blood , Metals, Heavy/adverse effects , Aged , Environmental Exposure/adverse effects , Biomarkers/blood , East Asian People
6.
Br J Nutr ; 131(6): 1031-1040, 2024 03 28.
Article in English | MEDLINE | ID: mdl-37926899

ABSTRACT

Dietary antioxidant indices (DAI) may be potentially associated with relative telomere length (RTL) of leucocytes. This study aimed to investigate the relationship between DAI and RTL. A cross-sectional study involving 1656 participants was conducted. A generalised linear regression model and a restricted cubic spline model were used to assess the correlation of DAI and its components with RTL. Generalised linear regression analysis revealed that DAI (ß = 0·005, P = 0·002) and the intake of its constituents vitamin C (ß = 0·043, P = 0·027), vitamin E (ß = 0·088, P < 0·001), Se (ß = 0·075, P = 0·003), and Zn (ß = 0·075, P = 0·023) were significantly and positively correlated with RTL. Sex-stratified analysis showed that DAI (ß = 0·006, P = 0·005) and its constituents vitamin E (ß = 0·083, P = 0·012), Se (ß = 0·093, P = 0·006), and Zn (ß = 0·092, P = 0·034) were significantly and positively correlated with RTL among females. Meanwhile, among males, only vitamin E intake (ß = 0·089, P = 0·013) was significantly and positively associated with RTL. Restricted cubic spline analysis revealed linear positive associations between DAI and its constituents' (vitamin E, Se and Zn) intake and RTL in the total population. Sex-stratified analysis revealed a linear positive correlation between DAI and its constituents' (vitamin E, Se and Zn) intake and RTL in females. Our study found a significant positive correlation between DAI and RTL, with sex differences.


Subject(s)
Antioxidants , Vitamin E , Humans , Male , Female , Cross-Sectional Studies , Telomere , China
7.
Trials ; 24(1): 637, 2023 Oct 04.
Article in English | MEDLINE | ID: mdl-37794507

ABSTRACT

BACKGROUND: Antibiotics are over-used for patients with respiratory tract infections (RTIs) in primary care, especially in the rural areas of China. METHODS: A cluster randomized controlled trial (RCT) will be carried out to estimate the effectiveness of a tailored message package for educating patients to reduce antibiotic use for symptomatic respiratory tract infections (RTIs). In the intervention group, patients will receive 12 short messages in 12 consecutive days. The whole process of the message design, modification, translation (of substitution variables), and sending will be facilitated by a user-friendly mini-computer program. The primary measure for assessment is the reduction in number of days in which antibiotics are used by patients with symptomatic RTIs. The secondary measures include (1) patients' knowledge about and attitude toward antibiotics; (2) patients' quality of life (EQ-5D-5L) and symptom severity and duration; (3) times of re-visits to clinics and antibiotics re-prescription for the same RTI episode; and (4) times of re-occurrence of RTIs and related health service seeking and antibiotics consumption. DISCUSSION: This study will determine the efficacy of a 12-message intervention to educate patients to reduce excessive antibiotic use in rural China. TRIAL REGISTRATION: ISRCTN29801086 . Registered on 23 September 2022.


Subject(s)
Anti-Bacterial Agents , Respiratory Tract Infections , Humans , Anti-Bacterial Agents/adverse effects , Respiratory Tract Infections/diagnosis , Respiratory Tract Infections/drug therapy , China , Rural Population , Prescriptions , Randomized Controlled Trials as Topic
8.
Eur J Dev Res ; 35(1): 148-166, 2023.
Article in English | MEDLINE | ID: mdl-35079208

ABSTRACT

The research aims to prioritize the pandemic's impact on the financial markets of developed and developing economies using a multi-criteria decision-making approach. The results revealed that COVID-19's pandemic effects on financial markets differ between developed and developing nations. COVID-19 pandemic affects developed countries' financial markets more through supply reduction, demand reduction, and economic instability. Regarding developing nations, confidence and expectations, changes in consumption patterns, and the bandwagon effect are the three most significant impacts of COVID-19 pandemic on financial markets. The best decisions to lower the effect of COVID-19 pandemic on developed nations' financial markets are the declaration of the stimulus package and support of small-and-medium-sized enterprises. Contrastingly, in developing countries, support for vulnerable households and declaration of the stimulus package are the best decisions to combat COVID-19's negative impact on their financial markets. As practical policy implications for lowering COVID-19's negative impact on financial markets, the promotion of new financing instruments, reconstruction of the relationship between public and private sectors, and support of vulnerable households and enterprises are highly recommended.


La recherche vise à hiérarchiser l'impact de la pandémie sur les marchés financiers des économies développées et en développement en utilisant une approche décisionnelle à plusieurs critères. Les résultats ont révélé que les effets du COVID-19 sur les marchés financiers diffèrent entre les nations développées et en développement. Le COVID-19 affecte davantage les marchés financiers des pays développés par la réduction de l'offre, la réduction de la demande et l'instabilité économique. En ce qui concerne les pays en développement, la confiance et les attentes, les changements dans les habitudes de consommation et l'effet boule de neige sont les trois impacts les plus significatifs causé par le COVID-19 sur les marchés financiers. Les meilleures décisions pour réduire l'effet du COVID-19 sur les marchés financiers des pays développés ont été la déclaration de plans de relance et le soutien aux petites et moyennes entreprises. En revanche, dans les pays en développement, le soutien aux ménages vulnérables et la déclaration de plans de relance apparaissent comme les meilleures décisions pour combattre l'impact négatif du COVID-19 sur leurs marchés financiers. En ce qui concerne les implications politiques pratiques pour réduire l'impact négatif du COVID-19 sur les marchés financiers, la promotion de nouveaux instruments de financement, la reconstruction de la relation entre les secteurs public et privé, et le soutien des ménages et des entreprises les plus vulnérables sont fortement recommandés.

9.
BMJ Open ; 12(9): e061601, 2022 09 30.
Article in English | MEDLINE | ID: mdl-36180124

ABSTRACT

INTRODUCTION: The objective of the Comprehensive Intervention of Oral Disease for Children (CIODC) in China is to prevent dental decay for school-aged children and provide free prevention services in pilot areas beginning in 2008. It is a potentially affordable, acceptable and effective prevention strategy to use for more school-aged children in the future. There is a shortage of robust evidence regarding the cost-effectiveness, feasibility and scalability of prevention strategies for dental decay for school-aged children in China. This study aims to provide a comprehensive evaluation, including an economic evaluation and process evaluation, to better understand how and why the public health programme may be effective and economical. METHODS AND ANALYSIS: Mixed methods will be used in this study. Cost-effectiveness analysis (CEA) will be conducted from a societal perspective, based on a modelling study over 6 years (from age 7 to 12) in terms of the incremental cost-effectiveness ratios per dental decay averted. The Reach, Effectiveness, Adoption, Implementation, and Maintenance (RE-AIM) framework informed the process evaluation. An estimated 48-80 semistructured interviews with service providers, patient parents/caregivers and decision-makers under the logic model will be used in the progress evaluation to describe the feasibility and sustainability of CIODC. ETHICS AND DISSEMINATION: The study has all necessary ethical approvals from the Ethics Committee of Anhui Medical University (number 2021H030). All participants will provide informed consent prior to participation. Findings will be disseminated through conference presentations and scientific publications in peer-reviewed journals.


Subject(s)
Dental Caries , Oral Health , Child , China , Cost-Benefit Analysis , Dental Caries/prevention & control , Health Promotion/methods , Humans
10.
J Med Internet Res ; 24(10): e37648, 2022 10 11.
Article in English | MEDLINE | ID: mdl-36114000

ABSTRACT

BACKGROUND: Home blood pressure telemonitoring (HBPT) is witnessing rapid diffusion worldwide. Contemporary studies documented mainly short-term (6-12 months) effects of HBPT, and there are limited data about its uptake. OBJECTIVE: The aim of this study was to explore the 3-year use and determinants of HBPT, and the interactions with systolic and diastolic blood pressure (SBP/DBP) and overall blood pressure (BP) control rate. METHODS: HBPT records were obtained from a 3-year cohort of 5658 patients with hypertension in Jieshou, Anhui, China, and data from a structured household survey of a random sample (n=3005) of the cohort. The data analysis comprised (1) timeline trajectories of the rates of monthly active HBPT and mean SBP/DBP for overall and subgroups of patients with varied start-month SBP/DBP; and (2) multivariable linear, logistic, and percentile regression analyses using SBP/DBP, BP control rate, and yearly times of HBPT as the dependent variable, respectively. RESULTS: HBPT was followed by mixed changes in mean monthly SBP/DBP for varied patient groups. The magnitude of changes ranged from -43 to +39 mmHg for SBP and from -27 to +15 mmHg for DBP. The monthly rates of active HBPT all exhibited a rapid and then gradually slower decline. When controlled for commonly reported confounders, times of HBPT in the last year were found to have decreasing correlation coefficients for SBP/DBP (from 0.16 to -0.35 and from 0.11 to -0.35, respectively) and for BP control rate (from 0.53 to -0.62). CONCLUSIONS: HBPT had major and "target-converging" effects on SBP/DBP. The magnitude of changes was much greater than commonly reported. BP, variation in BP, and time were the most important determinants of HBPT uptake. Age, education, duration of hypertension, family history, and diagnosis of hypertension complications were also linked to the uptake but at weaker strength. There is a clear need for differentiated thinking over the application and assessment of HBPT, and for identifying and correcting/leveraging potential outdated/new opportunities or beliefs.


Subject(s)
Blood Pressure Monitoring, Ambulatory , Hypertension , Blood Pressure , Blood Pressure Determination , Cohort Studies , Humans , Hypertension/diagnosis
11.
BMJ Open ; 12(3): e053277, 2022 03 03.
Article in English | MEDLINE | ID: mdl-35241465

ABSTRACT

OBJECTIVE: A number of factors contribute to the utilisation of family doctor contract services (FDCS) in China. This study aims to measure the preferences of the elderly for the FDCS and identify the key factors (and their relative importance) that may guide policymakers in more accurately providing the FDCS. PARTICIPANTS AND METHODS: A discrete choice experiment was performed to elicit the preferences for FDCS among the rural elderly in China. Attributes and levels were established based on qualitative methods. Four attributes were included: service type, service package, physician's reputation and annual contract costs. A D-efficient design was used to create a set of profiles that represented FDCS. The survey was conducted face to face using a sample of participants aged 60 and above in rural areas of Anhui Province. The data were analysed using a latent class logit (LCL) model. RESULTS: A total of 545 valid questionnaires were included in the analysis. The average age of the participants was 69.44 (SD 5.80). Two latent classes were identified with the LCL model. All four attributes proved statistically significant at the level of both the population mean and the two classes. The rural elderly showed a preference for FDCS with a relatively good reputation, lower annual contract costs, the basic service with the add-on of chronic disease service and home visit. Age, gender, education, self-reported health status and the number of chronic diseases were found to be associated with latent class membership. CONCLUSION: In this study, the physician's reputation had the largest impact on the rural elderly's choice of FDCS. Policy recommendations included the need to strengthen family doctor team training, devote greater attention to improving the family doctor's medical skills and service approaches, and increased FDCS efficiency for the care of the rural elderly.


Subject(s)
Physicians, Family , Rural Health Services , Aged , China/epidemiology , Chronic Disease , Contract Services , Female , Humans , Rural Population , Surveys and Questionnaires
12.
Antibiotics (Basel) ; 11(2)2022 Jan 21.
Article in English | MEDLINE | ID: mdl-35203744

ABSTRACT

In China, efforts to restrict excessive antibiotic consumption may prevent sufficient access to these life-saving drugs among the most deprived in society because of the weak primary health care system. This makes antibiotic stewardship in the retail pharmacy sector a particular challenge. We conducted an analysis to examinate policies on antibiotic sales in retail pharmacies in China and how tensions between 'excess' and 'access' are managed. The analysis was guided by the Walt and Gilson health policy analysis triangle to systematically analyse policies based on the content of policies, contexts, governance processes, and actors. Nine research studies and 25 documents identified from national and international sources were extracted, grouped into categories, and examined within and across records and categories. As of 2020, eight key policies have been introduced in China that focus on two areas: dispending prescribed medicines or antimicrobials with a prescription and having a licensed pharmacist present in the retail pharmacies, with approaches having changed over time. Inappropriate sales of antibiotics are still common in retail pharmacies, which can be linked to the lack of consistency and enforcement of published policies, the profit-driven nature of retail pharmacies, and the displacement of the demand for antibiotics from clinical into less regulated settings.

13.
BMJ Open ; 12(1): e048267, 2022 Jan 03.
Article in English | MEDLINE | ID: mdl-34980608

ABSTRACT

INTRODUCTION: Up to 80% of patients with respiratory tract infections (RTI) attending healthcare facilities in rural areas of China are prescribed antibiotics, many of which are unnecessary. Since 2009, China has implemented several policies to try to reduce inappropriate antibiotic use; however, antibiotic prescribing remains high in rural health facilities. METHODS AND ANALYSIS: A cluster randomised controlled trial will be carried out to estimate the effectiveness and cost effectiveness of a complex intervention in reducing antibiotic prescribing at township health centres in Anhui Province, China. 40 Township health centres will be randomised at a 1:1 ratio to the intervention or usual care arms. In the intervention group, practitioners will receive an intervention comprising: (1) training to support appropriate antibiotic prescribing for RTI, (2) a computer-based treatment decision support system, (3) virtual peer support, (4) a leaflet for patients and (5) a letter of commitment to optimise antibiotic use to display in their clinic. The primary outcome is the percentage of antibiotics (intravenous and oral) prescribed for RTI patients. Secondary outcomes include patient symptom severity and duration, recovery status, satisfaction, antibiotic consumption. A full economic evaluation will be conducted within the trial period. Costs and savings for both clinics and patients will be considered and quality of life will be measured by EuroQoL (EQ-5D-5L). A qualitative process evaluation will explore practitioner and patient views and experiences of trial processes, intervention fidelity and acceptability, and barriers and facilitators to implementation. ETHICS AND DISSEMINATION: Ethical approval was obtained from the Biomedical Research Ethics Committee of Anhui Medical University (Ref: 20180259); the study has undergone due diligence checks and is registered at the University of Bristol (Ref: 2020-3137). Research findings will be disseminated to stakeholders through conferences and peer-reviewed journals in China, the UK and internationally. TRIAL REGISTRATION NUMBER: ISRCTN30652037.


Subject(s)
Anti-Bacterial Agents , Respiratory Tract Infections , Anti-Bacterial Agents/therapeutic use , China , Humans , Inappropriate Prescribing/prevention & control , Primary Health Care , Quality of Life , Randomized Controlled Trials as Topic , Respiratory Tract Infections/drug therapy
14.
BMC Health Serv Res ; 21(1): 1048, 2021 Oct 05.
Article in English | MEDLINE | ID: mdl-34610843

ABSTRACT

BACKGROUND: In China, the primary health care (PHC) system has been designated responsible for control and prevention of COVID-19, but not treatment. Suspected COVID-19 cases presenting to PHC facilities must be transferred to specialist fever clinics. This study aims to understand the impact of COVID-19 on PHC delivery and on antibiotic prescribing at a community level in rural areas of central China. METHODS: Qualitative semi-structured interviews were conducted with 18 PHC practitioners and seven patients recruited from two township health centres and nine village clinics in two rural residential areas of Anhui province. Interviews were transcribed verbatim and analysed thematically. RESULTS: PHC practitioners reported a major shift in their work away from seeing and treating patients (due to government-mandated referral to specialist Covid clinics) to focus on the key public health roles of tracing, screening and educating in rural areas. The additional work, risk, and financial pressure that PHC practitioners faced, placed considerable strain on them, particularly those working in village clinics. Face to face PHC provision was reduced and there was no substitution with consultations by phone or app, which practitioners attributed to the fact that most of their patients were elderly and not willing or able to switch. Practitioners saw COVID-19 as outside of their area of expertise and very different to the non-COVID-19 respiratory tract infections that they frequently treated pre-pandemic. They reported that antibiotic prescribing was reduced overall because far fewer patients were attending rural PHC facilities, but otherwise their antibiotic prescribing practices remained unchanged. CONCLUSIONS: The COVID-19 pandemic had considerable impact on PHC in rural China. Practitioners took on substantial additional workload as part of epidemic control and fewer patients were seen in PHC. The reduction in patients seen and treated in PHC led to a reduction in antibiotic prescribing, although clinical practice remains unchanged. Since COVID-19 epidemic control work has been designated as a long-term task in China, rural PHC clinics now face the challenge of how to balance their principal clinical and increased public health roles and, in the case of the village clinics, remain financially viable.


Subject(s)
Anti-Bacterial Agents , COVID-19 , Aged , Anti-Bacterial Agents/therapeutic use , China , Humans , Pandemics , Primary Health Care , SARS-CoV-2
15.
Eur J Hum Genet ; 28(12): 1734-1742, 2020 12.
Article in English | MEDLINE | ID: mdl-32740652

ABSTRACT

To analyze pedigrees with quantitative trait (QT) and sequence data, we developed a rare variant (RV) quantitative nonparametric linkage (QNPL) method, which evaluates sharing of minor alleles. RV-QNPL has greater power than the traditional QNPL that tests for excess sharing of minor and major alleles. RV-QNPL is robust to population substructure and admixture, locus heterogeneity, and inclusion of nonpathogenic variants and can be readily applied outside of coding regions. When QNPL was used to analyze common variants, it often led to loci mapping to large intervals, e.g., >40 Mb. In contrast, when RVs are analyzed, regions are well defined, e.g., a gene. Using simulation studies, we demonstrate that RV-QNPL is substantially more powerful than applying traditional QNPL methods to analyze RVs. RV-QNPL was also applied to analyze age-at-onset (AAO) data for 107 late-onset Alzheimer's disease (LOAD) pedigrees of Caribbean Hispanic and European ancestry with whole-genome sequence data. When AAO of AD was analyzed regardless of APOE ε4 status, suggestive linkage (LOD = 2.4) was observed with RVs in KNDC1 and nominally significant linkage (p < 0.05) was observed with RVs in LOAD genes ABCA7 and IQCK. When AAO of AD was analyzed for APOE ε4 positive family members, nominally significant linkage was observed with RVs in APOE, while when AAO of AD was analyzed for APOE ε4 negative family members, nominal significance was observed for IQCK and ADAMTS1. RV-QNPL provides a powerful resource to analyze QTs in families to elucidate their genetic etiology.


Subject(s)
Alzheimer Disease/genetics , Genetic Linkage , Genome-Wide Association Study/methods , Polymorphism, Genetic , Quantitative Trait Loci , ADAMTS1 Protein/genetics , ATP-Binding Cassette Transporters/genetics , Age of Onset , Algorithms , Alzheimer Disease/pathology , Apolipoproteins E/genetics , Female , Humans , Male , ras Guanine Nucleotide Exchange Factors/genetics
16.
Am J Hum Genet ; 105(4): 822-835, 2019 10 03.
Article in English | MEDLINE | ID: mdl-31585107

ABSTRACT

To analyze family-based whole-genome sequence (WGS) data for complex traits, we developed a rare variant (RV) non-parametric linkage (NPL) analysis method, which has advantages over association methods. The RV-NPL differs from the NPL in that RVs are analyzed, and allele sharing among affected relative-pairs is estimated only for minor alleles. Analyzing families can increase power because causal variants with familial aggregation usually have larger effect sizes than those underlying sporadic diseases. Differing from association analysis, for NPL only affected individuals are analyzed, which can increase power, since unaffected family members can be susceptibility variant carriers. RV-NPL is robust to population substructure and admixture, inclusion of nonpathogenic variants, as well as allelic and locus heterogeneity and can readily be applied outside of coding regions. In contrast to analyzing common variants using NPL, where loci localize to large genomic regions (e.g., >50 Mb), mapped regions are well defined for RV-NPL. Using simulation studies, we demonstrate that RV-NPL is substantially more powerful than applying traditional NPL methods to analyze RVs. The RV-NPL was applied to analyze 107 late-onset Alzheimer disease (LOAD) pedigrees of Caribbean Hispanic and European ancestry with WGS data, and statistically significant linkage (LOD ≥ 3.8) was found with RVs in PSMF1 and PTPN21 which have been shown to be involved in LOAD etiology. Additionally, nominally significant linkage was observed with RVs in ABCA7, ACE, EPHA1, and SORL1, genes that were previously reported to be associated with LOAD. RV-NPL is an ideal method to elucidate the genetic etiology of complex familial diseases.


Subject(s)
Alzheimer Disease/diagnosis , Alzheimer Disease/genetics , Genetic Linkage , Whole Genome Sequencing , Female , Humans , Male , Pedigree
17.
BMJ Open ; 9(8): e027819, 2019 08 10.
Article in English | MEDLINE | ID: mdl-31401593

ABSTRACT

INTRODUCTION: This study aims to investigate patterns of antibiotic treatment-seeking, describe current levels of and drivers for antibiotic use for common infections (respiratory tract and urinary tract infections) and test the feasibility of determining the prevalence and epidemiology of antimicrobial resistance (AMR) in rural areas of Anhui province, in order to identify potential interventions to promote antibiotic stewardship and reduce the burden of AMR in China. METHODS AND ANALYSIS: We will conduct direct observations, structured and semistructured interviews in retail pharmacies, village clinics and township health centres to investigate treatment-seeking and antibiotic use. Clinical isolates from 1550 sputum, throat swab and urine samples taken from consenting patients at village and township health centres will be analysed to identify bacterial pathogens and ascertain antibiotic susceptibilities. Healthcare records will be surveyed for a subsample of those recruited to the study to assess their completeness and accuracy. ETHICS AND DISSEMINATION: The full research protocol has been reviewed and approved by the Biomedical Ethics Committee of Anhui Medical University (reference number: 20170271). Participation of patients and doctors is voluntary and written informed consent is sought from all participants. Findings from the study will be disseminated through academic routes including peer-reviewed publications and conference presentations, via tailored research summaries for health professionals, health service managers and policymakers and through an end of project impact workshop with local and regional stakeholders to identify key messages and priorities for action.


Subject(s)
Anti-Bacterial Agents/therapeutic use , Critical Pathways , Decision Making , Practice Patterns, Physicians' , Rural Population , Antimicrobial Stewardship , China , Drug Utilization , Humans , Primary Health Care , Public Policy , Qualitative Research , Research Design
18.
Psychol Health Med ; 23(8): 934-951, 2018 09.
Article in English | MEDLINE | ID: mdl-29353490

ABSTRACT

The aim of investigation is to explore the relationship between demands for lung cancer screening (LCS) and the constructs derived from the health belief model (HBM) in Hefei. The study collected data about socio-demographics, health beliefs in and demands for LCS during early June to later July 2015. By constructing a LCS demands HBM constructs, it calculated indices of demands for LCS (DSI) and HBM constructs, which include perceived risk (PR) and seriousness (PS) of the cancers; and perceived effectiveness (PE), benefits (PB) and difficulties (PD) of the screening. It also performed descriptive and multivariate regression analysis of the demands and the HBM constructs. The amount of 823 respondents participated and completed the survey. 6.4% of them had ever undertaken LCS, whereas 60.1% of them expressed willingness to accept the service of LCS if it is free. In multiple regression analysis which used weights in calculating the HBM construct indices, education displayed significant positive associations with DSI (p = .044), and most of HBM constructs indices (PSI, PRI, PBI, and PDI) were statistically significant with DSI (p < .05). HBM-based constructs regarding LCS have important effects on demands for the service, and may provide effective paths to cancer screening promotion.


Subject(s)
Attitude to Health , Early Detection of Cancer , Lung Neoplasms/diagnosis , Patient Acceptance of Health Care , Adult , Aged , China , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Multivariate Analysis , Perception , Regression Analysis , Surveys and Questionnaires
19.
Am J Hum Genet ; 101(1): 115-122, 2017 Jul 06.
Article in English | MEDLINE | ID: mdl-28669402

ABSTRACT

Massively parallel sequencing technologies provide great opportunities for discovering rare susceptibility variants involved in complex disease etiology via large-scale imputation and exome and whole-genome sequence-based association studies. Due to modest effect sizes, large sample sizes of tens to hundreds of thousands of individuals are required for adequately powered studies. Current analytical tools are obsolete when it comes to handling these large datasets. To facilitate the analysis of large-scale sequence-based studies, we developed SEQSpark which implements parallel processing based on Spark to increase the speed and efficiency of performing data quality control, annotation, and association analysis. To demonstrate the versatility and speed of SEQSpark, we analyzed whole-genome sequence data from the UK10K, testing for associations with waist-to-hip ratios. The analysis, which was completed in 1.5 hr, included loading data, annotation, principal component analysis, and single variant and rare variant aggregate association analysis of >9 million variants. For rare variant aggregate analysis, an exome-wide significant association (p < 2.5 × 10-6) was observed with CCDC62 (SKAT-O [p = 6.89 × 10-7], combined multivariate collapsing [p = 1.48 × 10-6], and burden of rare variants [p = 1.48 × 10-6]). SEQSpark was also used to analyze 50,000 simulated exomes and it required 1.75 hr for the analysis of a quantitative trait using several rare variant aggregate association methods. Additionally, the performance of SEQSpark was compared to Variant Association Tools and PLINK/SEQ. SEQSpark was always faster and in some situations computation was reduced to a hundredth of the time. SEQSpark will empower large sequence-based epidemiological studies to quickly elucidate genetic variation involved in the etiology of complex traits.


Subject(s)
Databases, Nucleic Acid , Exome/genetics , Genetic Variation , Genome-Wide Association Study/methods , Sequence Analysis, DNA/methods , Software , Humans , Principal Component Analysis , Waist-Hip Ratio
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