The influencing factors of changes in physical activity levels of pregnant women during pregnancy: From the perspective of continuous care.

A comprehensive understanding of physical activity levels (PAL) among Chinese pregnant women and an exploration, from a continuous care perspective, of various factors influencing these activity levels. Investigating the correlations between adverse habits, psychological factors, and PAL in prenatal health management. This study aims to provide substantial guidance for prenatal health management and personalized care, offering recommendations to healthcare professionals and policymakers to enhance the overall health and well-being of pregnant women. This study enrolled 1256 pregnant women as research subjects. Baseline information was collected through a personal information collection form. Subsequently, continuous care was provided during the early, middle, and late stages of pregnancy, documenting the respective influencing factors. Simultaneously, the International Physical Activity Questionnaire (IPAQ) was utilized to assess the PAL of pregnant women across different trimesters. Finally, using the SPSS software version 25.0, a combined approach of generalized linear mixed effects (GLME) models and multivariate logistic regression was used to statistically analyze the collected data, comprehensively exploring the influencing factors of PAL during pregnancy. The proportion of research subjects engaged in low-level physical activity decreased from 60.80% to 40.34% across various stages of pregnancy, while the proportion engaged in moderate-level physical activity ranged from 25.32% to 40.75%. Meanwhile, the proportion engaged in high-level physical activity accounted for 13.88% to 18.91%.There was P = .021 and ß = -0.276 for smoking before pregnancy. The P-value of pregnant women who smoke in the second trimester was.035, the Odds Ratio (OR) value was 0.638, and the 95% confidence interval (CI) was (0.406, 0.972). The difference was statistically significant (all P < .05). In China, the physical activity level of pregnant women is generally low, which is related to factors such as smoking, alcohol consumption, sleep disorders, and depression during pregnancy. Medical personnel should improve the living habits of pregnant women and enhance their PAL through measures such as health education and psychological counseling.

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Advance care planning (ACP) is designed to ensure that patients lacking autonomous decision-making capacity receive medical services in accordance with their expectations and preferences. Individuals with advanced cancer are a crucial target for ACP implementation. However, the current practice of ACP in this group in China is suboptimal, demanding high-quality implementation evidence to strengthen ACP in the clinical practice of patients with advanced cancer. The existing literature can be summarized into 27 pieces of evidence across 7 dimensions, including initiation time, intervention content, intervention providers, intervention modalities, communication skills, outcome indicators, and environmental support. The aforementioned evidence could provide crucial support for improving ACP implementation for patients with advanced cancer. Subsequent research efforts should integrate patient preferences and explore the most suitable implementation strategies for ACP in the Chinese population with advanced cancer, considering diverse aspects such as traditional culture, ACP education and training, legislative support, and healthcare system refinement.

Multi-trait GWAS for diverse ancestries: mapping the knowledge gap.

BACKGROUND: Approximately 95% of samples analyzed in univariate genome-wide association studies (GWAS) are of European ancestry. This bias toward European ancestry populations in association screening also exists for other analyses and methods that are often developed and tested on European ancestry only. However, existing data in non-European populations, which are often of modest sample size, could benefit from innovative approaches as recently illustrated in the context of polygenic risk scores. METHODS: Here, we extend and assess the potential limitations and gains of our multi-trait GWAS pipeline, JASS (Joint Analysis of Summary Statistics), for the analysis of non-European ancestries. To this end, we conducted the joint GWAS of 19 hematological traits and glycemic traits across five ancestries (European (EUR), admixed American (AMR), African (AFR), East Asian (EAS), and South-East Asian (SAS)). RESULTS: We detected 367 new genome-wide significant associations in non-European populations (15 in Admixed American (AMR), 72 in African (AFR) and 280 in East Asian (EAS)). New associations detected represent 5%, 17% and 13% of associations in the AFR, AMR and EAS populations, respectively. Overall, multi-trait testing increases the replication of European associated loci in non-European ancestry by 15%. Pleiotropic effects were highly similar at significant loci across ancestries (e.g. the mean correlation between multi-trait genetic effects of EUR and EAS ancestries was 0.88). For hematological traits, strong discrepancies in multi-trait genetic effects are tied to known evolutionary divergences: the ARKC1 loci, which is adaptive to overcome p.vivax induced malaria. CONCLUSIONS: Multi-trait GWAS can be a valuable tool to narrow the genetic knowledge gap between European and non-European populations.

Impacts of Smoking Ban Policies on Billiard Hall Sales in South Korea Using Objective Sales Information of a Credit Card Company: Quasi-Experimental Study.

BACKGROUND: Smoking ban policies (SBPs) are potent health interventions and offer the potential to influence antismoking behavior. The Korean government completely prohibited smoking in indoor sports facilities, including billiard halls, since the government revised the National Health Promotion Act in December 2017. OBJECTIVE: This study aimed to examine the impact of the SBP on the economic outcomes of indoor sports facilities, particularly billiard halls. METHODS: This study used credit card sales data from the largest card company in South Korea. Data are from January 2017 to December 2018. Monthly sales data were examined across 23 administrative neighborhoods in Seoul, the capital city of South Korea. We conducted the interrupted time series model using the fixed effects model and the linear regression with panel-corrected standard errors (PCSE). RESULTS: The sales and transactions of billiard halls were not significantly changed after the introduction of the SBP in the full PCSE models. The R2 of the full PCSE model was 0.967 for sales and 0.981 for transactions. CONCLUSIONS: The introduction of the SBP did not result in substantial economic gains or losses in the sales of billiard halls. In addition to existing price-based policies, the enhanced SBP in public-use facilities, such as billiard halls, can have a positive synergistic effect on reducing smoking prevalence and preventing secondhand smoke. Health policy makers can actively expand the application of SBPs and make an effort to enhance social awareness regarding the necessity and benefits of public SBPs for both smokers and the owners of hospitality facilities.

Mixed-ownership reform and factor misallocation: Evidence from China.

An enterprise's ownership structure is crucial for factor allocation efficiency. We used Chinese firm-level data to investigate whether changes in state-owned enterprise ownership structure contribute to resource misallocation, leading to high-quality economic development. We found a U-shaped relationship between non-state shareholding and state-owned enterprises' resource allocation efficiency. An optimal range exists for non-state shareholding. When the shareholding of non-state shareholders reaches 10%-20%, the efficiency of resource allocation is at its highest. Additional research has revealed that mixed shareholding has varying impacts on resource allocation, displaying substantial heterogeneity. These insights offer valuable guidance for future mixed-ownership reforms and serve as a practical reference for economic reforms in other nations, particularly developing countries.

Indian Academy of Pediatrics Consensus Guidelines on Preconception Care.

JUSTIFICATION: The preconception period is the earliest window of opportunity to ensure optimal human development.  Pregnancy and childbirth outcomes can be improved by interventions offered to support the health and well-being of women and couples prior to conception. Thus, preconception care is essential in preparing for the first thousand days of life. Adolescence, the stage of life that typically comes before the preconception stage, is characterized by various high-risk behaviors like substance abuse, sexual experimentation, injuries, obesity, and mental health issues which can adversely affect their health in adult life. Thus, a Consensus Guideline for pediatricians on providing preconception care to adolescents and young adults can go a long way in making the generations to come, healthier and more productive. OBJECTIVES: The purpose of these recommendations is to formulate an evidence-based Consensus Statement that can serve as a guidance for medical professionals to provide preconception care for young adults and adolescents. INTENDED USERS: All obstetric, pediatric, and adolescent health care providers. TARGET POPULATION: Adolescents and young adults. PROCESS: A large proportion of adolescents seek care from pediatricians and there is a lack of Consensus Guidelines on preconception care. Therefore, the Indian Academy of Pediatrics called an online National Consultative Meeting on April 03, 2023, under the chairmanship of Dr MKC Nair and the National Convenor Dr Himabindu Singh. A group of pediatricians with wide experience and expertise in adolescent health care were assigned the task of formulating evidence-based guidelines on preconception care. The group conducted a comprehensive review of existing evidence by searching resources including PubMed and Cochrane databases. Subsequently, a physical meeting was held at Amritsar on October 07, 2023 during which the consensus was reached through discussions and voting. The level of evidence (LoE) of each recommendation was graded as per the Oxford Centre for Evidence-Based Medicine (OCEBM) 2011. RECOMMENDATIONS: Every woman planning a pregnancy needs to attain and maintain a eumetabolic state. Prospective couples need to be counselled on the importance of a healthy lifestyle including a nutritious diet, avoidance of substance abuse, and timely screening for genetic disorders. Screening for and management of sexually transmitted diseases in males and females, appropriate vaccination and addressing mental health concerns are also recommended.

Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.

BACKGROUND: Cutis laxa is a connective tissue disease caused by abnormal synthesis or secretion of skin elastic fibers, leading to skin flabby and saggy in various body parts. It can be divided into congenital cutis laxa and acquired cutis laxa, and inherited cutis laxa syndromes is more common in clinic. METHODS: In this study, we reported a case of a Han-Chinese male newborn with ATP6V0A2 gene variant leading to cutis laxa. The proband was identified by whole-exome sequencing to determine the novel variant, and their parents were verified by Sanger sequencing. Bioinformatics analysis and minigene assay were used to verify the effect of this variant on splicing function. RESULTS: The main manifestations of the proband are skin laxity, abnormal facial features, and enlargement of the anterior fontanelle. Whole-exome sequencing showed that the newborn carried a non-canonical splicing-site variant c.117 + 5G > T, p. (?) in ATP6V0A2 gene. Sanger sequencing showed that both parents of the proband carried the heterozygous variant. The results of bioinformatics analysis and minigene assay displayed that the variant site affected the splicing function of pre-mRNA of the ATP6V0A2 gene. CONCLUSIONS: In this study, it was identified that ATP6V0A2 gene c. 117 + 5G > T may be the cause of the disease. The non-canonical splicing variants of ATP6V0A2 gene were rarely reported in the past, and this variant expanded the variants spectrum of the gene. The functional study of minigene assay plays a certain role in improving the level of evidence for the pathogenicity of splicing variants, which lays a foundation for prenatal counseling and follow-up gene therapy.

Impact of climate-induced floods and typhoons on geriatric disabling health among older Chinese and Filipinos: a cross-country systematic review.

BACKGROUND: Apart from both China and the Philippines continuing to be exposed to and affected by different climate-induced hazards, in particular floods and typhoons, they are also reported to be witnessing rapid ageing populations of 60 years and older. As such, this systematic review synthesized the existing evidence about the impacts aggravated by floods and typhoons on the geriatric disabling health of older Chinese and Filipinos, respectively. METHODS: Four (4) electronic databases were systematically searched to identify eligible studies published between 2000 and early 2023. This process had to confirm the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines (PRISMA), as well as the standard protocol registered with PROSPERO (CRD42023420549). RESULTS: Out of 317 and 216 initial records retrieved for China and the Philippines, respectively, 27 (China) and 25 (Philippines) studies were eligible for final review. The disabling conditions they reported to affect the health of older adults were grouped into 4 categories: cognitive and intellectual, physical, chronic and terminal illnesses, and mental and psychological, with the latter identified as the most prevalent condition to affect older Chinese and Filipinos. On a sub-category level, posttraumatic stress disorder (PTSD) was the most common condition reported in 27 flood-related studies in China, while injuries and wounds prevailed in the Philippines, according to 25 typhoon-related studies. CONCLUSION: The increasing occurrence of extreme climate hazards, especially floods and typhoons in China and the Philippines, respectively, impacted the health of their older adults with various disabling effects or conditions. Therefore, this calls for appropriate geriatric-informed interventions in the context of climate change and rapidly ageing settings beyond China and the Philippines to others that are also prone to floods and typhoons.

Sustaining Healthy Habits: The Enduring Impact of Combined School-Family Interventions on Consuming Sugar-Sweetened Beverages among Pilot Chinese Schoolchildren.

This study assesses the enduring impact of combined school- and family-based interventions on reducing the consumption of sugar-sweetened beverages (SSBs) among schoolchildren in China. Two primary schools were assigned at random to either the Intervention Group or the Control Group, in Nanjing, eastern China. All students were in grade three and received an invitation to participate. In the first year, students in the Intervention Group received one-year intervention measures, including monthly monitoring, aiming to decrease the consumption of SSBs. Students in the Control Group only received regular monitoring without interventions. In the second year, both groups received only regular monitoring, without active interventions. A generalized estimating equations model (GEE) was used to assess the intervention effects. After two years, relative to the Control Group, the Intervention Group had a significantly improved knowledge of SSBs and an improved family environment with parents. In the Intervention Group, 477 students (97.3%) had adequate knowledge about SSBs, compared to 302 students (83.2%) in the Control Group (X2 = 52.708, p < 0.001). Two years later, the number of students who stated 'my home always has SSBs' in the Intervention Group (7.8%) was fewer than that in the Control Group (12.4%), which was a statistically significant finding (p < 0.05). One year later, both the frequency and the quantity of SSB consumption in the Intervention Group were less than those in the Control Group; such differences between the groups remained statistically significant for the quantity but not for the frequency of SSB consumption two years later. In the Intervention Group, the frequency of SSB consumption was significantly reduced by 1.0 times per week, compared to a reduction of 0.1 times per week in the Control Group in the first year (p < 0.05). In the second year, the frequency of SSB consumption was reduced by 0.8 times per week in the Intervention Group, compared to 0.5 times per week in the Control Group (p > 0.05). In the first year, the volume of SSB consumption was significantly reduced by 233 mL per week in the Intervention Group, compared to an increase of 107 mL per week in the Control Group (p < 0.05). In the second year, the volume of SSB consumption was reduced by 122 mL per week in the Intervention Group compared to an increase of 31 mL per week in the Control Group (p > 0.05). The combined school-based and family-based interventions had a positive effect on the students' knowledge of SSBs and their family dynamics during the first and second year. Relative to the Control Group, the Intervention Group had a statistically significant reduction in SSB consumption after 1 year, but not after 2 years.

Association between Consumption of Iodine-Rich Foods and Thyroid Cancer Prevalence: Findings from a Large Population-Based Study.

The influence of iodine-rich foods on thyroid cancer (TC) risk remains inadequately understood. Therefore, we aimed to comprehensively investigate the relationship between three iodine-rich food groups and TC prevalence using extensive data from a large Korean population. We assessed the dietary intake of 169,057 participants in the Korean Genome and Epidemiology Study (2004-2013) using a food frequency questionnaire. The top-three iodine-rich food groups (including egg, seaweed, and dairy) were selected based on Korean dietary reference intakes and categorized by weekly consumption frequency. We conducted multiple logistic regression models to examine the relationship between food consumption and TC prevalence. After adjusting for confounding factors, higher seaweed consumption (>5 times/week) was significantly associated with lower TC prevalence (odds ratio [OR], 95% confidence interval [CI] = 0.42, 0.32-0.56, p-value < 0.001). In contrast, compared with moderate dairy consumption (3-4 times/week), lower dairy product intake (<1 time/week) was associated with higher TC prevalence (OR, 95% CI = 1.32, 1.05-1.67, p-value = 0.017). Our findings suggest that sufficient seaweed consumption may offer protection against TC, and incorporating dairy products into the diet may lower TC incidence in the Korean population. The most significant limitations of our study are the absence of 24 h urine samples for iodine status assessment and the lack of clinical data on the diagnosis of thyroid cancer.

Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Mucopolysaccharidosis type IIIC (MPS IIIC) is one of inherited lysosomal storage disorders, caused by deficiencies in lysosomal hydrolases degrading acidic mucopolysaccharides. The gene responsible for MPS IIIC is HGSNAT, which encodes an enzyme that catalyses the acetylation of the terminal glucosamine residues of heparan sulfate. So far, few studies have focused on the genetic landscape of MPS IIIC in China, where IIIA and IIIB were the major subtypes. In this study, we utilized whole-exome sequencing (WES) to identify novel compound heterozygous variants in the HGSNAT gene from a Chinese patient with typical MPS IIIC symptoms: c.743G>A; p.Gly248Glu and c.1030C>T; p.Arg344Cys. We performed in silico analysis and experimental validation, which confirmed the deleterious pathogenic nature of both variants, as evidenced by the loss of HGSNAT activity and failure of lysosomal localization. To the best of our knowledge, the MPS IIIC is first confirmed by clinical, biochemical and molecular genetic findings in China. Our study thus expands the spectrum of MPS IIIC pathogenic variants, which is of importance to dissect the pathogenesis and to carry out clinical diagnosis of MPS IIIC. Moreover, this study helps to depict the natural history of Chinese MPS IIIC populations.

How do taxi drivers expose to fine particulate matter (PM2.5) in a Chinese megacity: a rapid assessment incorporating with satellite-derived information and urban mobility data.

BACKGROUND: Taxi drivers in a Chinese megacity are frequently exposed to traffic-related particulate matter (PM2.5) due to their job nature, busy road traffic, and urban density. A robust method to quantify dynamic population exposure to PM2.5 among taxi drivers is important for occupational risk prevention, however, it is limited by data availability. METHODS: This study proposed a rapid assessment of dynamic exposure to PM2.5 among drivers based on satellite-derived information, air quality data from monitoring stations, and GPS-based taxi trajectory data. An empirical study was conducted in Wuhan, China, to examine spatial and temporal variability of dynamic exposure and compare whether drivers' exposure exceeded the World Health Organization (WHO) and China air quality guideline thresholds. Kernel density estimation was conducted to further explore the relationship between dynamic exposure and taxi drivers' activities. RESULTS: The taxi drivers' weekday and weekend 24-h PM2.5 exposure was 83.60 µg/m3 and 55.62 µg/m3 respectively, 3.4 and 2.2 times than the WHO's recommended level of 25 µg/m3. Specifically, drivers with high PM2.5 exposure had a higher average trip distance and smaller activity areas. Although major transportation interchanges/terminals were the common activity hotspots for both taxi drivers with high and low exposure, activity hotspots of drivers with high exposure were mainly located in busy riverside commercial areas within historic and central districts bounded by the "Inner Ring Road", while hotspots of drivers with low exposure were new commercial areas in the extended urbanized area bounded by the "Third Ring Road". CONCLUSION: These findings emphasized the need for air quality management and community planning to mitigate the potential health risks of taxi drivers.

Understanding lived experiences and perceptions of resilience in black and South Asian Muslim children living in East London: a qualitative study protocol.

INTRODUCTION: It is important to promote resilience in preadolescence; however, there is limited research on children's understandings and experiences of resilience. Quantitative approaches may not capture dynamic and context-specific aspects of resilience. Resilience research has historically focused on white, middle-class Western adults and adolescents, creating an evidence gap regarding diverse experiences of resilience in middle childhood which could inform interventions. East London's Muslim community represents a diverse, growing population. Despite being disproportionately affected by deprivation and racial and cultural discrimination, this population is under-represented in resilience research. Using participatory and arts-based methods, this study aims to explore lived experiences and perceptions of resilience in black and South Asian Muslim children living in East London. METHODS AND ANALYSIS: We propose a qualitative study, grounded in embodied inquiry, consisting of a participatory workshop with 6-12 children and their parents/carers to explore lived experiences and perceptions of resilience. Participants will be identified and recruited from community settings in East London. Eligible participants will be English-speaking Muslims who identify as being black or South Asian, have a child aged 8-12 years and live in East London. The workshop (approx. 3.5 hours) will take place at an Islamic community centre and will include body mapping with children and a focus group discussion with parents/carers to explore resilience perspectives and meanings. Participants will also complete a demographic survey. Workshop audio recordings will be transcribed verbatim and body maps and other paper-based activities will be photographed. Data will be analysed using systematic visuo-textual analysis which affords equal importance to visual and textual data. ETHICS AND DISSEMINATION: The Queen Mary Ethics of Research Committee at Queen Mary University of London has approved this study (approval date: 9 October 2023; ref: QME23.0042). The researchers plan to publish the results in peer-reviewed journals and present findings at academic conferences.

Lip Print Pattern among Children Visiting Dental Out patient department.

BACKGROUND: Lip print patterns are unique in every individual. The uniqueness of lip print pattern assists in the personal identification. The objectives of the present study were to study the different lip print patterns among the children visiting Kanti Children's Hospital, and to compare the distribution of lip print patterns based on gender and race. METHODS: A cross-sectional study was conducted among 300 children visiting the Dental Outpatient Department of Kanti Children's Hospital, Kathmandu, Nepal. Convenience sampling method was used to choose the study subjects. Digital photography method was used to record the image of lips. RESULTS: The study showed 'Long vertical' (Type I) as the most frequent (41%) type of lip print pattern, whereas 'Unspecified' (Type V) was the least frequent (2.7%) type. Prevalence of 'Type I' pattern was significantly higher in males as compared to females (p=0.007) whereas prevalence of 'Type IV' pattern was significantly higher in females as compared to males (p=0.006). 'Type I' pattern was the commonest lip print pattern among both Caucasians and Mongolian, whereas 'Type V' (2%) and 'Type IV' (3.7%) were the least common lip print patterns in Caucasians and Mongolian children respectively. CONCLUSIONS: 'Long vertical' (Type I) was the most common lip print pattern among the children visiting the Dental Outpatient Department of Kanti Children's Hospital, Kathmandu, Nepal. Nevertheless, in higher or lesser numbers, all kinds of lip print patterns as described by Suzuki and Tsuchihashi were seen in the study population.

A Systematic Review and Meta-Analysis of the Predictive Power of China-PAR Against Cardiovascular Disease.

Background and Purpose: To evaluate the predictive power of the China-PAR model for cardiovascular disease (CVD).Methods: Dominate databases, including PubMed, Web of Science, CNKI, Wanfang Data Knowledge Service Platform, Chinese Biomedical Literature Service System, and VIP self-built database, were searched from January 1, 2016 to February 22, 2022. The primary outcome included observed events and predicted events by China-PAR. Meta-analysis was performed using RevMan 5.3 software. Stroke, arteriosclerotic cardiovascular disease (ASCVD), male, and female were divided into subgroup analyses. Funnel plots were used to assess publication bias.Results: A total of nine studies, which included 221,918 participants, were analyzed. Meta-analysis showed the combined observed incidence of CVD was 3.97%, and the combined predicted incidence was 9.59% by China-PAR. There was no significant difference between the observed and the predicted events. Subgroup analysis showed there was no statistical significance between the observed and the predicted events for stroke or for ASCVD. The difference between the observed and the predicted events by China-PAR was not statistically significant in either males or females.Conclusions: China-PAR model has important public health significance to further improve the primary prevention strategy of CVD.

The process, outcomes and context of the sanitation change induced by the Swachh Bharat Mission in rural Jharkhand, India.

BACKGROUND: The Indian Swachh Bharat Mission (SBM) was launched in 2014 with the goal to make India open defecation (OD) free by October 2019. Although it is known that the ambitious goal was not achieved, the nature of the sanitation change brought about by the SBM in different parts of India is poorly understood. One reason is a dearth of case studies that would shed light on the performance of the SBM simultaneously across its different domains. This article provides an example of such study. Employing a Process, Outcomes, Context approach, the objective is to understand the process and outcomes of the SBM-induced sanitation change in a specific context of rural Jharkhand. METHODS: The study utilizes data collected through field research conducted in the rural areas of Ranchi district, Jharkhand, a state in east-central India. This data was obtained via repeated cross-sectional household surveys conducted at the beginning and at the end of the SBM, supplemented by key informant interviews with SBM stakeholders. FINDINGS: We identified political support of SBM implementation and its acceptance amongst the population. Female community workers became key agents of SBM implementation at local level. The SBM increased toilet coverage in the study area from 15% to 85% and lowered the OD rate from 93% to 26%. It substantially reduced structural inequalities in access to toilets, furthered social sanitation norms, improved some of the attitudes towards toilet use, but impacted less on hygiene and sanitation knowledge. The implementation mainly concentrated on the construction of subsidized toilets but less on improving public understanding of safe sanitation practices. CONCLUSIONS: Although the SBM reduced sanitation inequalities in access to toilets in the study area, the behaviour change component was underplayed, focusing more on spreading normative sanitation messages and less on public education. Sustainability of the observed sanitation change remains a key question for the future. This article calls for more systematic production of geographically situated knowledge on the performance of sanitation interventions.

The association of FKBP5 gene polymorphism with genetic susceptibility to depression and response to antidepressant treatment- a systematic review.

BACKGROUND: Given the inconsistencies in current studies regarding the impact of FKBP5 gene polymorphisms on depression, arising from variations in study methods, subjects, and treatment strategies, this paper provides a comprehensive review of the relationship between FKBP5 gene polymorphisms and genetic susceptibility to depression, as well as their influence on response to antidepressant treatment. METHODS: Electronic databases were searched up to April 11, 2023, for all literature in English and Chinese on depression, FKBP5 gene polymorphisms, and antidepressant treatment. Data extraction and quality assessment were performed for key study characteristics. Qualitative methods were used to synthesize the study results. RESULTS: A total of 21 studies were included, with the majority exhibiting average to moderate quality. Six SNPs (rs3800373, rs1360780, rs9470080, rs4713916, rs9296158, rs9394309) were broadly implicated in susceptibility to depression, while rs1360780 and rs3800373 were linked to antidepressant treatment sensitivity. Additionally, rs1360780 was associated with adverse reactions to antidepressant drug treatment. However, these associations were largely unconfirmed in replication studies. CONCLUSIONS: Depression is recognized as a polygenic genetic disorder, with multiple genes contributing, each exerting relatively small effects. Future studies should explore not only multiple gene interactions but also epigenetic changes. Presently, research on FKBP5 in affective disorders remains notably limited, highlighting the necessity for further investigations in this domain.

Replication study identified EFEMP1 association with varicose vein predisposition among Indians.

BACKGROUND: Varicose vein is a chronic condition that affects the lower extremities of the human body. Several factors have been implicated in the development of this disease, viz age, gender, weight, height and prolonged standing. Recently, genome-wide studies have identified genetic biomarkers that are associated with varicose veins in different ethnic groups. Such genetic studies are lacking in South Asians specifically in Indians where the prevalence of varicose veins is high, and it is important to replicate these variants in the stated population. The study aimed to replicate the association of genetic variants associated with varicose veins in this target population, which were found to be associated with the other ethnic groups. METHODOLOGY: The studied cohort is of the Indian population comprising unrelated 104 varicose veins cases and 448 non-varicose vein controls. The samples were genotyped using the Illumina Global Screening Array. Using the genomic data from UK BioBank and 23andMe studied cohorts; eight genetic variants were selected to replicate in our dataset. The allelic association was performed to identify the effective allele and risk was estimated using odds ratio and p-value as level of significance. Multifactor Dimensionality Reduction was used to estimate the cumulative effect of variants in Indians. RESULT: Variant rs3791679 of EFEMP1 was found to be associated with varicose veins in Indians. After observing the association of the EFEMP1 with varicose veins, we further ensued to identify all genetic variants within EFEMP1 to uncover the additional variants associated with this trait. Interestingly, we identified six new variants of EFEMP1 gene that have shown association. Moreover, the cumulative effect of all associated variations was estimated and the risk was 2.7 times higher in cases than controls whereas independently their effect ranges from 0.37-1.58. CONCLUSION: This study identifies EFEMP1 as a potential gene related to the risk of varicose veins in Indians. It also highlights that evaluating the maximum number of variants of a gene rather than focusing solely on replicating single variations offers a more comprehensive and nuanced understanding of the genetic factors contributing to a complex trait like varicose veins.

A preliminary metabolomics study of the database for biological samples of schizophrenia among Chinese ethnic minorities.

BACKGROUND: Schizophrenia (SCZ) is a profound mental disorder with a multifactorial etiology, including genetics, environmental factors, and demographic influences such as ethnicity and geography. Among these, the studies of SCZ also shows racial and regional differences. METHODS: We first established a database of biological samples for SCZ in China's ethnic minorities, followed by a serum metabolomic analysis of SCZ patients from various ethnic groups within the same region using the LC-HRMS platform. RESULTS: Analysis identified 47 metabolites associated with SCZ, with 46 showing significant differences between Miao and Han SCZ patients. These metabolites, primarily fatty acids, amino acids, benzene, and derivatives, are involved in fatty acid metabolism pathways. Notably, L-Carnitine, L-Cystine, Aspartylphenylalanine, and Methionine sulfoxide demonstrated greater diagnostic efficacy in Miao SCZ patients compared to Han SCZ patients. CONCLUSION: Preliminary findings suggest that there are differences in metabolic levels among SCZ patients of different ethnicities in the same region, offering insights for developing objective diagnostic or therapeutic monitoring strategies that incorporate ethnic considerations of SCZ.