Han Population Research Articles

Expression of Concern: “Population data of 17 Y-STR loci in Nanyang Han population from Henan Province, Central China” [Forensic Science International: Genetics, Volume 13, November 2014, Pages 145-146]

Expression of Concern: “Population data of 17 Y-STR loci in Nanyang Han population from Henan Province, Central China” [Forensic Science International: Genetics, Volume 13, November 2014, Pages 145-146]

Physical function is associated with cognitive status, brain amyloid-beta deposition, and blood biomarkers in Chinese Han population.

The physical function of elderly individuals reflects whether they have had a history of regular physical activity over the long term. Such indicators have been found to have a certain connection with cognitive function these years. However, there is limited research that associates it with mechanisms such as cerebral Aβ deposition. We aim to investigate this relationship and unveil the underlying mechanisms. Physical function and cognition data of 4189 participants were obtained from the Chinese preclinical Alzheimer's disease study. Participants were divided into six groups according to disease severity. Among them, 1048 participants underwent the positron emission tomography-computed tomography (PET-CT) and plasma biomarker test. Grip strength and gait were combined into a score indicating physical function. Multiple linear regression models and logistic regression models were mainly used to conduct the analysis. There was a significant positive correlation between physical function and cognitive function (R = 0.48, p < 0.001), independent of sex, age, apolipoprotein E-ε4 genotype, and disease stages (p < 0.001). Physical function was effective in distinguishing individuals with cognitive impairment from those without (AUC = 0.835). Physical function was negatively associated with brain Aβ deposition (p = 0.008) and brain Aβ had an intermediary effect (p < 0.01) on the association between physical function and cognition in women. This association was mainly evident in the lateral parietal, lateral temporal, posterior cingulate, frontal, occipital, and precuneus regions. Physical function was negatively associated with plasma neurofilament light-chain (Nfl) level (p < 0.001). Physical function is strongly associated with cognitive function in the Chinese elderly, and brain Aβ deposition partly mediates the linkage in women. Plasma Nfl can be used as a potential target for exercise intervention in cognitive function. Improving physical function will contribute to the alleviation of cognition decline.

Secular Trends in Depressive Symptoms in Adolescents in Yunnan, Southwest China From Before COVID-19 to During the COVID-19 Pandemic: Longitudinal, Observational Study.

Yunnan province borders Myanmar, Laos, and Vietnam, giving it one of the longest borders in China. We aimed to determine the trends in prevalence and impact of COVID-19 on depressive symptoms among adolescents (12-18 years) from 2018 to 2022 in Yunnan, southwest China. We evaluated the impact of the COVID-19 epidemic on adolescents' mental health, with the aim of reducing the effect of psychological emergency syndrome and promoting healthy, happy adolescent growth. This longitudinal, observational study used Students' Health Survey data on adolescents' depressive symptoms from 2018 to 2022 (before and during COVID-19) in Yunnan. We used multistage, stratified sampling in 3 prefectures in 2018 and 16 prefectures from 2019 to 2022. In each prefecture, the study population was classified by gender and residence (urban or rural), and each group was of equal size. Depressive symptoms were diagnosed based on Center for Epidemiological Studies Depression Scale (CES-D) scores. We used ANOVA to assess the differences in mean CES-D scores stratified by gender, age, residence, grade, and ethnicity. Chi-square tests were used to compare depressive symptoms by different variables. For comparability, the age-standard and gender-standard population prevalences were calculated using the 2010 China Census as the standard population. The association between COVID-19 and the risk of a standardized prevalence of depressive symptoms was identified using unconditional logistic regression analysis. The standardized prevalence of depressive symptoms for all participants was 32.98%: 28.26% in 2018, 30.89% in 2019, 29.81% in 2020, 28.77% in 2021, 36.33% in 2022. The prevalences were 30.49% before COVID-19,29.29% in early COVID-19, and 36.33% during the COVID-19 pandemic. Compared with before COVID-19, the risks of depressive symptoms were 0.793 (95% CI 0.772-0.814) times higher in early COVID-19 and 1.071 (95% CI 1.042-1.100) times higher than during COVID-19. The average annual increase in depressive symptoms was 1.61%. During the epidemic, the prevalence of depressive symptoms in girls (36.87%) was higher than that in boys (28.64%), and the acceleration rate of girls was faster than that of boys. The prevalences of depressive symptoms and acceleration rates by age group were as follows: 27.14% and 1.09% (12-13 years), 33.99% and 1.8% (14-15 years), 36.59% and 1.65% (16-18 years). Prevalences did not differ between Han (32.89%) and minority (33.10%) populations. However, the acceleration rate was faster for the former than for the latter. The rate for senior high school students was the highest (34.94%). However, the acceleration rate for vocational high school students was the fastest (2.88%), followed by that for junior high school students (2.32%). Rural residents (35.10%) had a higher prevalence and faster acceleration than urban residents (30.16%). From 2018 to 2022, there was a significant, continuous increase in the prevalence of depressive symptoms among adolescents in Yunnan, China, especially during the COVID-19 pandemic. This represents an emergency public health problem that should be given more attention. Effective, comprehensive psychological and lifestyle intervention measures should be used to reduce the prevalence of mental health issues in adolescents.

Single nucleotide polymorphism of Notch1 gene rs3124599 allele is associated with the severity of CVA6-related HFMD in the Chinese Han population

BackgroundThere is evidence suggesting that Notch1 signaling pathway contributes to the development of hand, foot, and mouth disease (HFMD); however, the role of Notch1 gene polymorphisms in the severity of coxsackievirus A6 (CVA6)-related HFMD remains unclear. This study aimed to investigate the correlation between Notch1 gene polymorphisms and the severity of CVA6-related HFMD.MethodsA total of 196 patients (Chinese Han population) diagnosed with CVA6-related HFMD through nucleic acid testing were included in this study. Among them, 97 patients were classified as severe cases, while 99 cases were categorized as mild. The mRNA levels of Notch1 in the peripheral blood leukocytes of HFMD patients were detected by quantitative real-time polymerase chain reaction (qRT-PCR), and the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was utilized for genotyping of rs3124599, rs3124603, and rs3124591.ResultsThe frequencies of rs3124599 alleles were G (39.0%) and A (61.0%), while the frequencies of rs3124599 genotypes were GG (12.2%), GA (53.6%), and AA (34.2%), respectively. In the recessive model, the frequency of rs3124599 AA genotypes significantly increased in severe patients, compared to mild patients (P < 0.05). Due to the low frequency of alleles for rs3124591 and rs3124603 in patients, as well as the absence of any difference in their distribution between the two groups (P > 0.05), no additional statistical analysis was performed. After adjusting for age and sex, patients with rs3124599 AA genotype had a significantly higher risk of severe HFMD in comparison to G allele carriers (GA/GG), with an odds ratio (95% confidence interval) of 2.010 (1.094, 3.691). Meanwhile, the mRNA levels of Notch1 were found to be significantly higher in severe patients compared to mild patients (P < 0.05), and a positive correlation was observed between Notch1 mRNA levels and the peripheral blood monocyte count (r = 0.42, P < 0.001). Additionally, there were significant differences observed in Notch1 mRNA levels and peripheral blood monocyte counts between patients with the AA genotype of rs3124599 and those with the GA genotype or G allele carriers (P < 0.05).ConclusionIn the Chinese Han population, there is a strong correlation between the Notch1 rs3124599 allele and the severity of CVA6-related HFMD. This correlation may be attributed to genetic polymorphism of rs3124599 regulating Notch1 transcription levels. These findings reveal the important role of Notch1 gene polymorphism in CVA6 infection, establishing a scientific foundation for the precise control of severe HFMD.

Interaction of Th17 differentiations-related gene polymorphisms and environmental factors contributing to the disease classification, complications, and surgical risks of Crohn's disease in the Chinese Han population.

Few studies have been conducted on gene-environment interactions in the Chinese population with Crohn's disease (CD). We aimed to investigate the association between single nucleotide polymorphisms (SNPs) on the T helper 17 (Th17) cell and CD susceptibility/performance in Chinese individuals. We conducted a case-control and case-only study at the Peking Union Medical College Hospital. Four SNPs related to the Th17 cell pathway genes were prioritized, including rs2284553 (interferon gamma receptor 2), rs7517847 (interleukin 23 receptor), rs7773324 (interferon regulatory factor 4), and rs4263839 (tumor necrosis factor superfamily 15). SNP frequency was calculated, and gene-environment interaction was assessed by multifactor dimensionality reduction analysis. Altogether 159 CD patients and 316 healthy controls were included. All analyzed SNPs were found in Hardy-Weinberg equilibrium (P > 0.05). The frequency of rs2284553-A allele and rs4263839-A allele were lower in CD patients compared with controls (P < 0.05). While the rs4263839-A allele was more prevalent in ileocolonic CD patients than in those with isolated small intestinal or colonic disease (P = 0.035). Gene-environment interactions revealed associations between rs2284553 and breastfeeding, sunshine exposure, and fridge-stored food, affecting age at diagnosis, intestinal involvement, and intestinal stricture. Interaction of rs4263839 and breastfeeding influenced small intestinal lesions and intestinalstricture in CD. This study provided information on the genetic background in Chinese CD patients. Incorporating these SNPs into predictive models may improve risk assessment and outcome prediction. Gene-environment interaction contributes to the understanding of CD pathogenesis.

Deciphering the genomic insights into the coexistence of congenital scoliosis and congenital anomalies of the kidney and urinary tract.

Congenital scoliosis and congenital anomalies of the kidney and urinary tract are distinct genetic disorders with differing clinical manifestations. Clinically, their coexistence is not rare, but the etiologies of these complex diseases remain largely unknown, especially their shared genetic basis. We sequenced the genomes of 40 individuals diagnosed with both CS and CAKUT, alongside 2,764 controls from a Chinese Han population cohort. Our analyses encompassed gene-based and pathway-based weighted rare variant association tests, complemented by copy number variant association analyses, aiming to unravel the shared genomic etiology underlying these congenital conditions. Gene-based analysis identified PTPN11 as a pivotal gene influencing both skeletal and urinary system development (P = 1.95E-21), participating in metabolic pathways, especially the MAPK/ERK pathway known to regulate skeletal and urinary system development. Pathway-based enrichment showed a significant signal in the MAPK/ERK pathway (P = 3E-04), reinforcing the potential role of PTPN11 and MAPK/ERK pathway in both conditions. Additionally, CNV analysis pinpointed IGFLR1 haploinsufficiency as a potential influential factor in the combined CS-CAKUT phenotypic spectrum. This study enriches our understanding of the intricate genomic interplay underlying congenital scoliosis and kidney and urinary tract anomalies, emphasizing the shared genetic foundations between these two disorders.

Distribution of ABO and Rh Blood Groups in Tibetan and Han Populations With Cleft Lip and Palate in a Tertiary Hospital in Western China

Congenital cleft lip and palate is a common birth defect that seriously affects the lives of the afflicted children and their families. Previously, no research has been done to investigate the pathogenic characteristics of cleft lip and palate among ethnic minorities, for example, Tibetans, a minority ethnic group with a large population in China. This study aims to investigate the relationship between the occurrence of cleft lip and palate in Tibetans and Han Chinese in western China and the distribution of ABO blood groups and Rh blood groups to provide a theoretical basis for the precise prevention and treatment of cleft lip and palate. In this study, statistics on Tibetan patients with cleft lip and palate, some Han patients with cleft lip and palate, and normal controls from western China were retrospectively collected. All participants were patients from West China Stomatology Hospital, Sichuan University. All patients with cleft lip and palate received treatment at the hospital between January 2016 and September 2023. The normal controls were outpatients or inpatients who did not have cleft lip and palate, and who received treatment at the hospital between January 2020 and October 2023. Information on the A, B, O, and AB blood groups and Rh positive and negative blood groups of the patients was collected and compared with that of the normal controls. The incidence of different phenotypes, including cleft lip alone, cleft palate alone, and cleft lip with cleft palate, in patients of blood groups A, B, O and AB were statistically analyzed by Chi-square test. A total of 1227 Tibetan patients with cleft lip and palate, 4064 Han patients with cleft lip and palate, and 5360 normal controls were included in the study. Among all the patients with cleft lip and palate, 1863 had cleft lip alone, 1425 had cleft palate alone, and 2003 had cleft lip with cleft palate. The ABO blood group distribution of Tibetan patients with cleft lip and palate was characterized as O>B>A>AB, with Rh positive blood group accounting for 100%, blood type O accounting for 41.15%, and blood type B accounting for 30.64%. The blood group distribution of the Han patients with cleft lip and palate was characterized as O>A>B>AB, with Rh positive blood group accounting for 99.58%, blood type O accounting for 35.78%, and type A accounting for 30.54%. There was a significant difference in ABO blood groups between Tibetan and Han patients with cleft lip and palate (P<0.005), but no significant difference in Rh blood groups. The ABO blood group distribution of the Tibetan patients with cleft lip and palate showed an obvious difference from that of the control group, while those of the Han patients with cleft lip and cleft palate and the control group did not show obvious differences. In the analysis of the subtypes, it was found that the blood group distribution in the subtypes of cleft lip alone, cleft palate alone, and cleft lip with cleft palate in the Tibetan population was O>B>A>AB, while that in the Han Chinese population was O>A>B>AB. There were differences in blood group distribution between Tibetans and Hans of the subtypes of cleft lip alone and cleft lip with cleft palate (P<0.001), but there was no difference in blood group distribution in the population of cleft palate-only subtype. The proportion of blood type O in Tibetan patients with cleft lip and palate was significantly higher than that in the Han patients with cleft lip and palate. The blood group distribution of Tibetan patients with cleft lip and palate in Sichuan Province, Xizang Autonomous Region, and Qinghai Province was always O>B>A>AB. Tibetan patients from Shiqu County and Baiyu County, Ganzi Tibetan Autonomous Prefecture and Chaya County, Qamdo City were predominantly of blood type B, and those from other regions were mainly of blood type O. There were significant differences in the phenotype composition and ABO blood group distribution between the Tibetan and Han populations with cleft lip and palate in western China. The distribution of blood group O in the population with cleft lip and palate was higher than that in the normal population, and the same trend was observed for different phenotypes. However, differences between Tibetan and Han populations in ABO blood group distribution were only found in the phenotypes of cleft lip only and cleft lip with palate. Tibetans with blood type O are more prone to cleft lip deformity than Han people, and the effect in the phenotype of cleft lip with palate is less pronounced than that in the phenotype of cleft lip only.

Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.

Small supernumerary marker chromosomes (sSMCs) are additional chromosomes with unclear structures and origins, and their correlations with clinical fetal phenotypes remain incompletely understood, which reduces the accuracy of genetic counseling. We conducted a retrospective analysis of a cohort of 36 cases of sSMCs diagnosed in our center. We performed G-banding and chromosomal microarray analysis (CMA). The resulting karyotypes were compared with case reports in the literature and various databases including OMIM, DECIPHER, ClinVar, ClinGen, ISCA, DGV, and PubMed. Karyotype analysis data revealed that 19 out of 36 fetuses were mosaic. Copy number variants (CNVs) analysis results showed that 27 out of 36 fetuses harbored pathogenic/likely pathogenic variants. Among these 27 cases, 11 fetuses carried sex chromosome-related CNVs, including 4 female cases exhibiting Turner syndrome phenotypes and 7 cases showing Y chromosome deletions. In the remaining 16 fetuses with autosomal CNVs, 9 fetuses carried variants associated with Cat eye syndrome, Emanuel syndrome, Tetrasomy 18p, and 15q11-q13 duplication syndrome. Among these, 22 fetuses were terminated, and the remaining 5 fetuses were delivered and developed normally. Additionally, we identified a few variants with unclear pathogenicity. Cytogenetic analysis is essential for identifying the pathogenicity of sSMCs and increasing the accuracy of genetic counseling.

Customizing carrier screening in the Chinese population: Insights from a 334-gene panel.

This study aimed to evaluate the yield and applicability of expanded carrier screening and propose carrier rate screening thresholds suitable for the Chinese population by comparing the current screening panel with the American College of Medical Genetics and Genomics recommended panel of 113 genes. Using targeted next-generation sequencing, a customized panel with 334 genes was performed on 2168 individuals without clinical phenotypes for expanded carrier screening purpose. Variant interpretation followed the American College of Medical Genetics and Genomics guidelines. Carrier rates were calculated for each identified variant and each gene. At-risk couple rates were also assessed. The yield of expanded carrier screening was evaluated through calculating cumulative carrier rate. Overall, 65.87% of the individuals were found to be carriers of at least 1 disease causing variants. The overall at-risk couple rate was 11.76%, of which the GJB2:c.109G>A related at-risk couple rate was 5.78%. The cumulative carrier rate of 334-panel was 65.53%. When screened genes with gene carrier rate ≥1/1000, the expanded carrier screening can cover over 90% of the cumulative carrier rate and at-risk couples. A total of 86 genes overlapped with American College of Medical Genetics and Genomics Tier-3 genes and were attributed to the cumulative carrier rate of 47.33%. Expanded carrier screening using the 334-gene panel showed high screening efficiency. A threshold of gene carrier rate ≥1/1000 is recommended for selecting carrier screening genes in the Chinese Han population. This study highlights the importance of customizing screening panels based on the ACMG Tier-3 genes in conjunction with population-specific carrier frequencies to improve the accuracy and effectiveness of expanded carrier screening.

Geographical distribution of MTHFR C677T gene polymorphisms among the reproductive-age women in Chinese Han populations: based on migration

BackgroundMethylenetetrahydrofolate reductase (MTHFR) is essential for the metabolism of folic acid and homocysteine. The MTHFR C677T polymorphism is associated with several disorders. Our study aims to explore the geographical distributions of the MTHFR C677T polymorphism of women in China and how migration affected the polymorphism in Suzhou.MethodsA total of 7188 women of reproductive age were recruited in Suzhou of the study. Subjects were classified according to their native places after data extraction. MTHFR C677T gene polymorphisms were detected by quantitative PCR with genomic DNA isolated from blood samples.ResultsThe frequencies of the 677T allele and 677TT genotype were higher in northern China than that in southern China and decreased in geographical gradients from north to south. The frequencies were considerably higher in the migrant population than that in the indigenous population of Suzhou. The migrant population have gradually changed the prevalence in Suzhou.ConclusionsOur study suggested that the prevalence of MTHFR C677T polymorphisms among women varied across different geographical regions in Chinese Han populations. The 677T allele frequencies of the northern populations were significantly higher than those of the southern populations. The migrant population gradually changed the prevalence of the MTHFR C677T polymorphism in Suzhou.

Cut-off value of glycated hemoglobin A1c for detecting diabetic retinopathy in the Chinese population.

Glycated hemoglobin A1c (HbA1c) is considered the most suitable for diabetes mellitus diagnosis due to its accuracy and convenience. However, the effect of HbA1c on diabetic retinopathy (DR) in the Han and Korean populations in Jilin, China, remains inconclusive. To determine the best cut-off of HbA1c for diagnosing DR among the Chinese. This cross-sectional study included 1933 participants from the Yanbian area of Jilin Province, China. Trained investigators employed a questionnaire-based survey, physical examination, laboratory tests, and fundus photography for the investigation. The best cut-off value for HbA1c was established via the receiver operating characteristic curve. The factors associated with HbA1c-associated risk factors were determined via linear regression. The analysis included 887 eligible Chinese Han and Korean participants, 591 of whom were assigned randomly to the training set and 296 to the validation set. The prevalence of DR was 3.27% in the total population. HbA1c of 6.2% was the best cut-off value in the training set, while it was 5.9% in the validation set. In both Chinese Han and Korean populations, an HbA1c level of 6.2% was the best cut-off value. The optimal cut-off values of fasting blood glucose (FBG) ≥ 7 mmol/L and < 7 mmol/L were 8.1% and 6.2% respectively in Han populations, while those in Korean populations were 6.9% and 5.3%, respectively. Age, body mass index, and FBG were determined as the risk factors impacting HbA1c levels. HbA1c may serve as a useful diagnostic indicator for DR. An HbA1c level of 6.2% may be an appropriate cut-off value for DR detection in the Chinese population.

Dermotoscope assisted diagnosis of adolescent bullous pilomatricoma: six case reports

BackgroundPilomatricoma (PM) is a cutaneous benign neoplasm derived from the hair matrix. It clinically presents as a solitary and firm nodule overlying normal epidermis and is usually not easy to be noticed at early stage. Nevertheless, when special bullous lesion occurs in a short time or even ulcerates, preoperative diagnosis by a dermatologist is often challenging especially when the pediatric patients refuse biopsy.Case presentationWe present six bullous PM cases and particularly conduct correlation analysis on the dermotoscopy and histopathology detection data. The basic information, medical history, symptoms and lesion morphology results of the patients were also provided. We found that the incidence of bullous PM was higher in females than in males, and most patients were adolescents and the predilection location seem to be consistent in the vaccine injection site. The dermatoscopic features of bullous PM reported were luminous yellow structure below, with gray-blue homogeneous areas and branched capillary. The histological features were consistent with PM, and evident epidermis bullae were above the tumor with extraordinary dilation of lymphangion in the upper dermis. The patients described in this study were Chinese patients in Han population included 4 females and 2 males, coincidentally, they are almost teen-age, respectively are 5,11,17,19,21,22 year-old.ConclusionsThis study reported and analyzed the dermotoscopy and clinical characteristics of bullous PM, dermotoscopy may guide as a rapid and reliable technique in bullous PM diagnosis.

Analysis of anatomic location of burns inpatients in China from 2009 to 2018

BackgroundBurns cause serious physical and psychological harm to patients, placing a heavy burden on the global healthcare system. Our previous study detailed the epidemiological characteristics of burn injuries in Chinese inpatients from 2009 to 2018. Interestingly, the anatomic locations of burn injuries vary by gender, age, provinces, and outcomes among different causes. Therefore, this current study aims to analyze the characteristics of burn injuries in inpatients with various burn sites by collecting data in China from 2009 to 2018. This analysis will inform future healthcare system decisions and provide effective strategies.MethodsBurns inpatients from 196 hospitals across 31 provinces in China were included in the study, covering the period from 2009 to 2018. The data collected encompassed information on gender, age, etiology, regions, clinical outcomes, and anatomical locations of the injuries. Data analysis was conducted using Microsoft Excel 2007.ResultsFrom 2009 to 2018, a total of 333,995 burns inpatients were recorded. The most vulnerable parts to burns were multiple burn sites (230,090, 68.89%). Women were more susceptible to lower limb burns (15,608, 14%), while men were more prone to eye injuries (8,387, 3.37%) and hand burns (6,119, 2.75%). The age group of 0–10 years was the most vulnerable to burns across all body areas, including internal organs. In China, individuals aged 20–50 years were at a higher risk of head and neck burns compared to other age groups. The Han population showed increased vulnerability to eye injuries (2.12 times higher than minorities), respiratory tract issues (2.09 times higher than minorities), and trunk burns (1.83 times higher than minorities), while being less susceptible to internal organ injuries (0.23 times fewer than minorities) and lower limb burns (0.78 times fewer than minorities). The southwest region had the highest proportion of burns inpatients with burns affecting single body parts, whereas the eastern area had the highest rates of respiratory tract burns (0.85%) and multiple burn sites (80.64%). Scalding was identified as the most common cause of burns, while flame burns (769, 55.81%) and chemical burns (438, 47.35%) were the main causes of respiratory tract and internal organ injuries, respectively.ConclusionsThis study provides an initial description of characteristics of burns inpatients with various anatomic locations of burns in China over the past decade. Our findings will contribute to the most up-to-date clinical evidence database for healthcare planning and prevention initiatives in both China and other countries.

Regression of an ALK-Negative Cerebral Inflammatory Myofibroblastic Tumour by Steroid Therapy: A Case Report and Literature Review

Introduction: Inflammatory myofibroblastic tumours (IMTs) are non-neoplastic lesions characterized by collagenous stroma and polyclonal mononuclear infiltrates. IMTs typically arise in the lung, retroperitoneum or abdominal region but rarely in the central nervous system (CNS). The primary therapeutic option is surgical resection, and other therapies are currently controversial. Case report: We report a case of 23-year-old male ALK-negative cerebral IMT patient from Han population via steroid therapy. No relapse is observed at the follow-up visit. Conclusion: These results support the role of internal medication and promote the use of personalized therapy in genome-profiled IMTs.

Prevalence of Chronic Obstructive Pulmonary Disease and Its Associated Risk Factors in Yunnan Province, China: A Population Based Cross-Sectional Study.

Chronic obstructive pulmonary disease (COPD) is a significant disease impacting health and quality of life. Yunnan Province, a major tobacco producer, lacks comprehensive COPD studies. The purpose of this study is to describe the epidemic situation of COPD in Yunnan province and explore its influencing factors. This study is a cross-sectional research conducted in a representative sample of adults aged 20 and older from 13 prefectures and cities in Yunnan Province, China. COPD was diagnosed using post-bronchodilator pulmonary function tests. Demographics were analyzed with descriptive statistics. The influencing factors of COPD were examined by using the multivariate logistic regression models. Our study found that high-risk individuals for COPD accounted for 20.30% of the screened population aged 20 and above, with a COPD prevalence of 27.18% among this high-risk group. Male had a higher prevalence (33.01%) than did female (16.35%; p<0.001 for sex difference). Additionally, the proportion of severe and extremely severe COPD cases in Yunnan Province was higher than the national average and other provinces. After considering the potential confounding variables, male (OR=2.291, 95% CI: 1.584-3.313), age (OR=1.501, 95% CI: 1.338-1.685), underweight (OR=1.747, 95% CI: 1.225-2.491), previous smoking (OR=1.712, 95% CI: 1.182-2.478), passive smoking (OR=1.444, 95% CI: 1.159-1.800), and a history of respiratory system diseases in childhood (OR=2.010, 95% CI: 1.346-3.001) were significantly associated with an increased risk of COPD. Conversely, being overweight (OR=0.636, 95% CI: 0.489-0.828), and residing in high-altitude counties (OR=0.445, 95% CI: 0.263-0.754) were negatively correlated with the risk of COPD. There is significant prevalence of COPD (27.18%) among high-risk population aged 20 and above in Yunnan Province, China. Apart from male, smoking, BMI and other known risk factors for COPD. We found that high-altitude residence had a lower prevalence of COPD. There is no significant difference in COPD prevalence between Han and ethnic minority populations.

Correlation of FUT3 and FUT6 Gene Polymorphisms With Helicobacter pylori Infection.

Helicobacter pylori infection is a significant pathogen in gastrointestinal diseases. Previous studies have identified single-nucleotide polymorphisms (SNPs) are factors associated with H. pylori infection. Notably, Leb and Sialyl-Lex antigens, regulated by the FUT3 and FUT6 genes, play a crucial role in H. pylori infection. This study aimed to investigate the correlation between FUT3 and FUT6 gene polymorphisms and H. pylori infection in the Han population of northern China. An immunoturbidimetric assay was employed to detect H. pylori infection, categorizing subjects into infected and noninfected groups. Gene variants were identified through sequencing. Finally, FUT3 and FUT6 gene polymorphisms were analyzed to assess their association with H. pylori infection. The frequency of the T allele (rs778805) and the G allele (rs61147939) in the infection group was significantly higher than that in the noninfection group (63.4% vs. 55.1%, p = 0.045; 55.2% vs. 47.0%, p = 0.042, respectively). In the infection group, the frequency of the AA genotype (rs3745635) in the recessive model, the TT genotype (rs778805) in the recessive model, and the GG genotype (rs61147939) in the recessive model were significantly higher than the noninfection group (5.8% vs. 2.3%, p = 0.042; 41.9% vs. 29.3%, p = 0.022; 34.9% vs. 20.5%, p = 0.0068, respectively). The frequency of the A13 haplotype and the A13/A13 diplotype of the FUT6 gene was significantly higher in the infection group than in the noninfection group (55.56% vs. 46.32%, p = 0.019; 34.94% vs. 20.30%, p = 0.045, respectively). The rs778805-rs17855739-rs28362459-rs3745635 combination was identified as the best interaction model (p < 0.05). This study suggests that FUT3 and FUT6 gene polymorphisms are significantly associated with H. pylori infection in the Han Chinese from northern China.

Preliminary study of identified novel susceptibility loci for HAPE risk in a Chinese male Han population.

High altitude pulmonary edema (HAPE) is a life-threatening form of non-cardiogenic pulmonary edema. In recent years, association studies have become the main method for identifying HAPE genetic loci. A genome-wide association study (GWAS) of HAPE risk-associated loci was performed in Chinese male Han individuals (164 HAPE cases and 189 healthy controls) by the Precision Medicine Diversity Array Chip with 2,771,835 loci (Applied Biosystems Axiom™). Eight overlapping candidate loci in CCNG2, RP11-445O3.2, NUPL1 and WWOX were finally selected. In silico functional analyses displayed the PPI network, functional enrichment and signal pathways related to CCNG2, NUPL1, WWOX and NRXN1. This study provides data supplements for HAPE susceptibility gene loci and new insights into HAPE susceptibility.

MTF1 genetic variants are associated with lung cancer risk in the Chinese Han population

BackgroundMetal-regulatory transcription factor 1 (MTF1), a conserved metal-binding transcription factor in eukaryotes, regulates the proliferation of cancer cells by activating downstream target genes and then participates in the formation and progression of tumors, including lung cancer (LC). The expression level of MTF1 is down-regulated in LC, and high expression of MTF1 is associated with a good prognosis of LC. However, the association between MTF1 polymorphism and LC risk has not been explored.MethodsThe genotyping of MTF1 Single nucleotide polymorphisms (SNPs) including rs473279, rs28411034, rs28411352, and rs3748682 was identified by the Agena MassARRAY system among 670 healthy controls and 670 patients with LC. The odds ratio (OR) and 95% confidence intervals (CI) were calculated by logistics regression to assess the association of these SNPs with LC risk.ResultsMTF1 rs28411034 (OR 1.22, 95% CI 1.03–1.45, p = 0.024) and rs3748682 (OR 1.24, 95% CI 1.04–1.47, p = 0.014) were associated with higher LC susceptibility overall. Moreover, the effect of rs28411034 and rs3748682 on LC susceptibility was observed in males, subjects with body mass index (BMI) ≥ 24 kg/m2, smokers, drinkers, and patients with lung squamous carcinoma (OR and 95% CI > 1, p < 0.05). Besides, rs28411352 (OR 0.73, 95% CI 0.55–0.97, p = 0.028,) showed protective effect for reduced LC risk in drinkers.ConclusionsWe were first who reported that rs28411034 and rs3748682 tended to be relevant to increased LC susceptibility among the Chinese Han population. These results of this study could help to recognize the pathogenic mechanisms of the MTF1 gene in LC progress.

Construction of warfarin population pharmacokinetics and pharmacodynamics model in Han population based on Bayesian method

The purpose of this paper is to study the genetic polymorphisms of related gene loci (CYP2C9*3, VKORC1-1639G > A) based on demographic and clinical factors, and use the maximum a posterior Bayesian method to construct a warfarin individualized dose prediction model in line with the Chinese Han population. Finally, the built model is compared and analyzed with the widely used models at home and abroad. In this study, a total of 5467 INR measurements are collected from 646 eligible subjects in our hospital, and the maximum a posterior Bayesian method is used to construct a warfarin dose prediction that conforms to the Chinese Han population on the basis of the Hamberg model. The model is verified and compared with foreign models. This study finds that body weight and concomitant use of amiodarone have a significant effect on the anticoagulant effect of warfarin. The model can provide an effective basis for individualized and rational dosing of warfarin in Han population more accurately. In the performance of comparison with different warfarin dose prediction models, the new model has the highest prediction accuracy, and the prediction percentage is as high as 72.56%. The dose predicted by the Huang model is the closest to the actual dose of warfarin. The population pharmacokinetics and pharmacodynamics model established in this study can better reflect the distribution characteristics of INR values after warfarin administration in the Han population, and performs better than the models reported in the literature.

Large-scale, comprehensive plasma metabolomic analyses reveal potential biomarkers for the diagnosis of early-stage coronary atherosclerosis

BackgroundCoronary atherosclerosis (CAS) is a prevalent and chronic life-threatening disease. However, the detection of CAS at an early stage is difficult because of the lack of effective noninvasive diagnostic methods. The present study aimed to characterize the plasma metabolome of early-stage CAS patients to discover metabolomic biomarkers, develop a novel metabolite-based model for accurate noninvasive diagnosis of early-stage CAS, and explore the underlying metabolic mechanisms involved. MethodsA total of 100 patients with early-stage CAS and 120 age- and sex-matched control subjects were recruited from the Chinese Han population and further randomly divided into training (n = 120) and test sets (n = 100). The metabolomic profiles of the plasma samples were analyzed by an integrated untargeted liquid chromatography–mass spectrometry approach, including two separation modes and two ionization modes. Univariate and multivariate statistical analyses were employed to identify potential biomarkers and construct an early-stage CAS diagnostic model. ResultsThe integrated analytical method established herein improved metabolite coverage compared with single chromatographic separation and MS ionization mode. A total of 80 metabolites were identified as potential biomarkers of early-stage CAS, and these metabolites were mainly involved in glycerophospholipid, fatty acid, sphingolipid, and amino acid metabolism. An effective diagnostic model for early-stage CAS was established, incorporating 11 metabolites and achieving areas under the receiver operating characteristic curve (AUCs) of 0.984 and 0.908 in the training and test sets, respectively. ConclusionsOur study not only successfully developed an effective noninvasive diagnostic model for identifying early-stage CAS but also provided novel insights into the pathogenesis of CAS.