1.Genetic polymorphism of 23 autosomal STR loci in Han population from Yuncheng, Shanxi Province.
Hongyan GAO ; Jian YU ; Xiaodan FENG ; Xiaohong WU ; Li LUO ; Xianfeng LI ; Chao LIU ; Pengyu CHEN
Journal of Central South University(Medical Sciences) 2021;46(4):351-360
OBJECTIVES:
Due to the genetic feature of high diversity than other DNA markers, short tandem repeat (STR) plays key roles in forensic, anthropology, and population genetics. Newly introduced multiple STR kit is more valuable because of the greatly improved discriminatory power with the increase in the number of STR loci. The genetic polymorphic data are essential for the application and research in specific population. This study aims to investigate the genetic polymorphism of Han population residing in Yuncheng district, Shanxi Province, to evaluate the application of 23 STR loci in forensic personal identification and paternity test, and to explore the genetic relationship of Han population between Yuncheng and other populations.
METHODS:
A total of 23 STR loci were amplified from 525 healthy unrelated individuals from the Han nationality in Yuncheng, Shanxi Province using the AGCU EX25 amplification kit. The products were detected and separated by ABI 3500 Genetic Analyzer. Alleles were genotyped by GeneMapper ID (Version 3.2) software, and corresponding frequencies and forensic parameters were calculated. We calculated the genetic distance and plotted the neighboring-joining tree with other 13 population.
RESULTS:
The allele frequency of the 23 STRs ranged from 0.0010 to 0.5090. No deviation from Hardy-Weinberg equilibrium (
CONCLUSIONS
These 23 STRs are highly genetic polymorphic and informative in the Han population of Yuncheng, Shanxi Province, which can provide basic data for forensic personal identification, paternity testing, and population genetic research.
Asian Continental Ancestry Group/genetics*
;
China
;
Ethnic Groups/genetics*
;
Gene Frequency
;
Genetic Loci
;
Genetics, Population
;
Humans
;
Microsatellite Repeats/genetics*
;
Polymorphism, Genetic
2.Sex Differences in Gut Microbiota
Yong Sung KIM ; Tatsuya UNNO ; Byung Yong KIM ; Mi Sung PARK
The World Journal of Men's Health 2020;38(1):48-60
3.Phenotypes and endotypes of atopic dermatitis: Clinical implications
Allergy, Asthma & Respiratory Disease 2020;8(1):9-14
Atopic dermatitis (AD) is the most common chronic inflammatory skin disease, characterized by a complex pathophysiology and a variety of clinical phenotypes. However, heterogeneous clinical phenotypes are generally not considered in treating AD. To date, phenotypes and endotypes have been proposed to classify AD mainly based on differences in age, IgE, severity, race, skin barrier dysfunction, immune (Th2/Th17/Th22) polarization, and skin microbiome. Various biologics to target polarized immune pathways, including dupilumab, have been newly developed for the personalized treatment of moderate-to-severe AD. Further understanding of AD pathophysiology and identification of novel biomarkers will not only allow clinically useful stratification of AD and but also achieve precision medicine for the prevention and treatment of AD.
Biological Products
;
Biomarkers
;
Continental Population Groups
;
Dermatitis, Atopic
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Humans
;
Immunoglobulin E
;
Microbiota
;
Phenotype
;
Precision Medicine
;
Skin
;
Skin Diseases
4.SeqSQC: A Bioconductor Package for Evaluating the Sample Quality of Next-generation Sequencing Data.
Qian LIU ; Qiang HU ; Song YAO ; Marilyn L KWAN ; Janise M ROH ; Hua ZHAO ; Christine B AMBROSONE ; Lawrence H KUSHI ; Song LIU ; Qianqian ZHU
Genomics, Proteomics & Bioinformatics 2019;17(2):211-218
As next-generation sequencing (NGS) technology has become widely used to identify genetic causal variants for various diseases and traits, a number of packages for checking NGS data quality have sprung up in public domains. In addition to the quality of sequencing data, sample quality issues, such as gender mismatch, abnormal inbreeding coefficient, cryptic relatedness, and population outliers, can also have fundamental impact on downstream analysis. However, there is a lack of tools specialized in identifying problematic samples from NGS data, often due to the limitation of sample size and variant counts. We developed SeqSQC, a Bioconductor package, to automate and accelerate sample cleaning in NGS data of any scale. SeqSQC is designed for efficient data storage and access, and equipped with interactive plots for intuitive data visualization to expedite the identification of problematic samples. SeqSQC is available at http://bioconductor.org/packages/SeqSQC.
Breast Neoplasms
;
genetics
;
Cohort Studies
;
Continental Population Groups
;
genetics
;
Female
;
Genome, Human
;
High-Throughput Nucleotide Sequencing
;
methods
;
standards
;
Humans
;
Software
;
Whole Exome Sequencing
5.Estimated Glomerular Filtration Rates Show Minor but Significant Differences Between the Single and Subgroup Creatinine-Based Chronic Kidney Disease Epidemiology Collaboration Equations
Annals of Laboratory Medicine 2019;39(2):205-208
The creatinine-based Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equation can be calculated according to race, sex, and creatinine concentration (subgroup equation) or in the form expressed by one equation (single equation). Minor differences in the constants used in the CKD-EPI equations (subgroup vs single equations) could result in a significant difference in the estimated glomerular filtration rate (eGFR). We evaluated the impact of this difference in 79,709 Korean patients. The eGFR was calculated as an integer using the single and subgroup CKD-EPI equations. The differences in eGFR and GFR categories between the equations were analyzed. eGFR was higher in the subgroup equation than the single equation by 1 mL/min/1.73 m² for 12,476 (27.4%) Korean females. The GFR category based on the subgroup equation was reclassified using the single equation for 352 (0.77%) females. Based on the results, the constant of the single equation was optimized. There was no difference in eGFR values between equations using a multiplier of 1.0213 instead of 1.018 for the “white or other” females constant in the single CKD-EPI equation. Clinicians should carefully apply the CKD-EPI equation because eGFR values may differ by 1 mL/min/1.73 m² depending on the manner of calculation. To minimize these differences, the constants of the single equation should be revised.
Continental Population Groups
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Cooperative Behavior
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Creatinine
;
Epidemiology
;
Female
;
Glomerular Filtration Rate
;
Humans
;
Renal Insufficiency, Chronic
6.2018 Korean Association for the Study of the Liver (KASL) Clinical Practice Guidelines of Chronic Hepatitis B: What's Different?
The Korean Journal of Gastroenterology 2019;73(3):132-140
The clinical practice guideline for the management of chronic hepatitis B (CHB) was originally enacted in 2004 by the Korean Association for the Study of the Liver in order to provide medical practitioners with specific medical information regarding CHB to help them facilitate their understanding of the disease and treatment of the infected patients. Other than an update on the treatment of antiviral resistance in 2014, which is a partial revision, the guidelines for the treatment of chronic hepatitis B have been revised entirely three times in 2007, 2011, and 2015. Although several major international liver association have established and revised clinical practice guidelines, since the medical environment in each country is somewhat different depending on race, region, institution, and economic conditions, it is necessary to revise the Korean guidelines to that reflect our medical environment and own research results. In this review, major change and its background will be summarized about 2018 updated clinical practice guidelines for the management of CHB.
Continental Population Groups
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Hepatitis B, Chronic
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Hepatitis, Chronic
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Humans
;
Liver
7.Structural and Functional Features on Quantitative Chest Computed Tomography in the Korean Asian versus the White American Healthy Non-Smokers
Hyun Bin CHO ; Kum Ju CHAE ; Gong Yong JIN ; Jiwoong CHOI ; Ching Long LIN ; Eric A HOFFMAN ; Sally E WENZEL ; Mario CASTRO ; Sean B FAIN ; Nizar N JARJOUR ; Mark L SCHIEBLER ; R Graham BARR ; Nadia HANSEL ; Christopher B COOPER ; Eric C KLEERUP ; MeiLan K HAN ; Prescott G WOODRUFF ; Richard E KANNER ; Eugene R BLEECKER ; Stephen P PETERS ; Wendy C MOORE ; Chang Hyun LEE ; Sanghun CHOI ;
Korean Journal of Radiology 2019;20(7):1236-1245
OBJECTIVE: Considering the different prevalence rates of diseases such as asthma and chronic obstructive pulmonary disease in Asians relative to other races, Koreans may have unique airway structure and lung function. This study aimed to investigate unique features of airway structure and lung function based on quantitative computed tomography (QCT)-imaging metrics in the Korean Asian population (Koreans) as compared with the White American population (Whites). MATERIALS AND METHODS: QCT data of healthy non-smokers (223 Koreans vs. 70 Whites) were collected, including QCT structural variables of wall thickness (WT) and hydraulic diameter (Dh) and functional variables of air volume, total air volume change in the lung (ΔVair), percent emphysema-like lung (Emph%), and percent functional small airway disease-like lung (fSAD%). Mann-Whitney U tests were performed to compare the two groups. RESULTS: As compared with Whites, Koreans had smaller volume at inspiration, ΔVair between inspiration and expiration (p < 0.001), and Emph% at inspiration (p < 0.001). Especially, Korean females had a decrease of ΔVair in the lower lobes (p < 0.001), associated with fSAD% at the lower lobes (p < 0.05). In addition, Koreans had smaller Dh and WT of the trachea (both, p < 0.05), correlated with the forced expiratory volume in 1 second (R = 0.49, 0.39; all p < 0.001) and forced vital capacity (R = 0.55, 0.45; all p < 0.001). CONCLUSION: Koreans had unique features of airway structure and lung function as compared with Whites, and the difference was clearer in female individuals. Discriminating structural and functional features between Koreans and Whites enables exploration of inter-racial differences of pulmonary disease in terms of severity, distribution, and phenotype.
Asian Continental Ancestry Group
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Asthma
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Continental Population Groups
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Female
;
Forced Expiratory Volume
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Humans
;
Lung
;
Lung Diseases
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Phenotype
;
Prevalence
;
Pulmonary Disease, Chronic Obstructive
;
Thorax
;
Trachea
;
Vital Capacity
8.Validity of the dietary reference intakes for determining energy requirements in older adults
Didace NDAHIMANA ; Na Young GO ; Kazuko ISHIKAWA-TAKATA ; Jonghoon PARK ; Eun Kyung KIM
Nutrition Research and Practice 2019;13(3):256-262
BACKGROUND/OBJECTIVES: The objectives of this study were to evaluate the accuracy of the Dietary Reference Intakes (DRI) for estimating the energy requirements of older adults, and to develop and validate new equations for predicting the energy requirements of this population group. MATERIALS/METHODS: The study subjects were 25 men and 23 women with a mean age of 72.2 ± 3.9 years and 70.0 ± 3.3 years, and mean BMI of 24.0 ± 2.1 and 23.9 ± 2.7, respectively. The total energy expenditure (TEE) was measured by using the doubly labeled water (DLW) method, and used to validate the DRI predictive equations for estimated energy requirements (EER) and to develop new EER predictive equations. These developed equations were cross-validated by using the leave-one-out technique. RESULTS: In men, the DRI equation had a −7.2% bias and accurately predicted the EER (meaning EER values within ±10% of the measured TEE) for 64% of the subjects, whereas our developed equation had a bias of −0.1% and an accuracy rate of 84%. In women, the bias was −6.6% for the DRI equation and 0.2% for our developed equation, and the accuracy rate was 74% and 83%, respectively. The predicted EER was strongly correlated with the measured TEE, for both the DRI equations and our developed equations (Pearson's r = 0.915 and 0.908, respectively). CONCLUSIONS: The DRI equations provided an acceptable prediction of EER in older adults and these study results therefore support the use of these equations in this population group. Our developed equations had a better predictive accuracy than the DRI equations, but more studies need to be performed to assess the performance of these new equations when applied to an independent sample of older adults.
Adult
;
Aged
;
Bias (Epidemiology)
;
Energy Metabolism
;
Female
;
Humans
;
Male
;
Methods
;
Nutritional Requirements
;
Population Groups
;
Recommended Dietary Allowances
;
Water
9.When Thoughts Are in a Race: Area 10 and Bipolar Disorders
Shokouh ARJMAND ; Abdolreza SABAHI ; Vahid SHEIBANI
Psychiatry Investigation 2019;16(10):715-717
Racing thought, when patients incessantly shift from one word or sentence to another while pending previous ones unfinished, is a symptom of (hypo)mania in bipolar disorders received less attention hitherto. Here, based on few evidence, we aim to unfold our hypothetical viewpoint that the frontopolar cortex that is believed to play a part in multitasking and management of competing goals might be dysfunctional in bipolar patients and may contribute in induction of flight of ideas. We then address new avenues for future research and try to encourage researchers to design more comprehensive studies to either accept or decline this proposed conjecture.
Bipolar Disorder
;
Continental Population Groups
;
Humans
;
Magnetic Resonance Imaging
10.National trends in radiation dose escalation for glioblastoma
Rodney E WEGNER ; Stephen ABEL ; Zachary D HORNE ; Shaakir HASAN ; Vivek VERMA ; Tulika RANJAN ; Richard W WILLIAMSON ; Stephen M. KARLOVITS
Radiation Oncology Journal 2019;37(1):13-21
PURPOSE: Glioblastoma (GBM) carries a high propensity for in-field failure despite trimodality management. Past studies have failed to show outcome improvements with dose-escalation. Herein, we examined trends and outcomes associated with dose-escalation for GBM. MATERIALS AND METHODS: The National Cancer Database was queried for GBM patients who underwent surgical resection and external-beam radiation with chemotherapy. Patients were excluded if doses were less than 59.4 Gy; dose-escalation referred to doses ≥66 Gy. Odds ratios identified predictors of dose-escalation. Univariable and multivariable Cox regressions determined potential predictors of overall survival (OS). Propensity-adjusted multivariable analysis better accounted for indication biases. RESULTS: Of 33,991 patients, 1,223 patients received dose-escalation. Median dose in the escalation group was 70 Gy (range, 66 to 89.4 Gy). The use of dose-escalation decreased from 8% in 2004 to 2% in 2014. Predictors of escalated dose were African American race, lower comorbidity score, treatment at community centers, decreased income, and more remote treatment year. Median OS was 16.2 months and 15.8 months for the standard and dose-escalated cohorts, respectively (p = 0.35). On multivariable analysis, age >60 years, higher comorbidity score, treatment at community centers, decreased education, lower income, government insurance, Caucasian race, male gender, and more remote year of treatment predicted for worse OS. On propensity-adjusted multivariable analysis, age >60 years, distance from center >12 miles, decreased education, government insurance, and male gender predicted for worse outcome. CONCLUSION: Dose-escalated radiotherapy for GBM has decreased over time across the United States, in concordance with guidelines and the available evidence. Similarly, this large study did not discern survival improvements with dose-escalation.
Bias (Epidemiology)
;
Cohort Studies
;
Comorbidity
;
Continental Population Groups
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Drug Therapy
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Education
;
European Continental Ancestry Group
;
Glioblastoma
;
Humans
;
Insurance
;
Male
;
Odds Ratio
;
Radiotherapy
;
United States

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