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.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
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Biomarkers
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Continental Population Groups
;
Dermatitis, Atopic
;
Humans
;
Immunoglobulin E
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Microbiota
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Phenotype
;
Precision Medicine
;
Skin
;
Skin Diseases
3.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
4.The Influence of Anxiety on the Recognition of Facial Emotion Depends on the Emotion Category and Race of the Target Faces
Wonjun KANG ; Gayoung KIM ; Hyehyeon KIM ; Sue Hyun LEE
Experimental Neurobiology 2019;28(2):261-269
The recognition of emotional facial expressions is critical for our social interactions. While some prior studies have shown that a high anxiety level is associated with more sensitive recognition of emotion, there are also reports supporting that anxiety did not affect or reduce the sensitivity to the recognition of facial emotions. To reconcile these results, here we investigated whether the effect of individual anxiety on the recognition of facial emotions is dependent on the emotion category and the race of the target faces. We found that, first, there was a significant positive correlation between the individual anxiety level and the recognition sensitivity for angry faces but not for sad or happy faces. Second, while the correlation was significant for both low- and high-intensity angry faces during the recognition of the observer's own-race faces, there was significant correlation only for low-intensity angry faces during the recognition of other-race faces. Collectively, our results suggest that the influence of anxiety on the recognition of facial emotions is flexible depending on the characteristics of the target face stimuli including emotion category and race.
Anxiety
;
Continental Population Groups
;
Facial Expression
;
Humans
;
Interpersonal Relations
5.Upper Endoscopy up to 3 Years Prior to a Diagnosis of Gastric Cancer Is Associated With Lower Stage of Disease in a USA Multiethnic Urban Population, a Retrospective Study
Shailja C SHAH ; Chiaki NAKATA ; Alexandros D POLYDORIDES ; Richard M PEEK ; Steven H ITZKOWITZ
Korean Journal of Preventive Medicine 2019;52(3):179-187
OBJECTIVES: In the USA, certain races and ethnicities have a disproportionately higher gastric cancer burden. Selective screening might allow for earlier detection and curative resection. Among a USA-based multiracial and ethnic cohort diagnosed with non-cardia gastric cancer (NCGC), we aimed to identify factors associated with curable stage disease at diagnosis. METHODS: We retrospectively identified endoscopically diagnosed and histologically confirmed cases of NCGC at Mount Sinai Hospital in New York City. Demographic, clinical, endoscopic and histologic factors, as well as grade/stage of NCGC at diagnosis were documented. The primary outcome was the frequency of curable-stage NCGC (stage 0-1a) at diagnosis in patients with versus without an endoscopy negative for malignancy prior to their index exam diagnosing NCGC. Additional factors associated with curable-stage disease at diagnosis were determined. RESULTS: A total of 103 racially and ethnically diverse patients were included. Nearly 38% of NCGC were stage 0-Ia, 34% stage Ib-III, and 20.3% stage IV at diagnosis. A significantly higher frequency of NCGC was diagnosed in curable stages among patients who had undergone an endoscopy that was negative for malignancy prior to their index endoscopy that diagnosed NCGC, compared to patients without a negative endoscopy prior to their index exam (69.6% vs. 28.6%, p=0.003). A prior negative endoscopy was associated with 94.0% higher likelihood of diagnosing curable-stage NCGC (p=0.003). No other factors analyzed were associated with curable-stage NCGC at diagnosis. CONCLUSIONS: Endoscopic screening and surveillance in select high-risk populations might increase diagnoses of curable-stage NCGC. These findings warrant confirmation in larger, prospective studies.
Cohort Studies
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Continental Population Groups
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Diagnosis
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Early Diagnosis
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Endoscopy
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Gastritis, Atrophic
;
Gastrointestinal Neoplasms
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Helicobacter pylori
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Humans
;
Mass Screening
;
Prospective Studies
;
Retrospective Studies
;
Stomach Neoplasms
;
Urban Population
6.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
7.2018 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
;
Humans
;
Liver
8.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
;
Continental Population Groups
;
Female
;
Forced Expiratory Volume
;
Humans
;
Lung
;
Lung Diseases
;
Phenotype
;
Prevalence
;
Pulmonary Disease, Chronic Obstructive
;
Thorax
;
Trachea
;
Vital Capacity
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
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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
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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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