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
;
Biomarkers
;
Continental Population Groups
;
Dermatitis, Atopic
;
Humans
;
Immunoglobulin E
;
Microbiota
;
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.Morphological variation of the velum in children and adults using magnetic resonance imaging
Katelyn J KOTLAREK ; Abigail E HAENSSLER ; Kori E HILDEBRAND ; Jamie L PERRY
Imaging Science in Dentistry 2019;49(2):153-158
PURPOSE: The purpose of this study was to investigate variations in velar shape according to age, sex, and race using magnetic resonance imaging (MRI). MATERIALS AND METHODS: The study sample consisted of 170 participants (85 children, 85 adults) between 4 and 34 years of age. Velar morphology was visually classified using midsagittal MRI scans for each participant by 2 independent raters. Inter- and intra-rater reliability was assessed. Statistical analyses were performed to identify correlations of velar shape with sex, age, and race. RESULTS: The most frequent velar shape was “buttf” for both adults (41%) and children (58%) in this study. The least common shapes for adults were “leaf” and “S.f” The children did not exhibit any “leaff” or “straightf” velar shapes. A statistically significant difference was noted for age with respect to velar shape (P=0.014). Sex and race were found to have no significant impact on velar shape in this study. CONCLUSION: When using MRI to evaluate velar morphology, the “buttf” shape was most common in both children and adults. Velar shape varied significantly with age, while race and sex did not have a significant impact.
Adult
;
Child
;
Continental Population Groups
;
Humans
;
Magnetic Resonance Imaging
;
Palate, Soft
;
Pharynx
5.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
6.2018 Korean Liver Cancer Association and National Cancer Center for Clinical Practice Guidelines of Hepatocellular Carcinoma: What's Different from 2014?
The Korean Journal of Gastroenterology 2019;74(2):101-109
The Korean clinical practice guidelines for the management of hepatocellular carcinoma (HCC) was originally enacted in 2004 by the Korean Liver Cancer Association (KLCA)-National Cancer Center (NCC) Korea in order to provide medical practitioners with specific medical information regarding HCC to help them facilitate their understanding of the disease and treatment of the patients. KLCA-NCC Korea practice guidelines for the management of HCC have been revised entirely two times in 2009, and 2014. 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 environments 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 HCC.
Carcinoma, Hepatocellular
;
Continental Population Groups
;
Humans
;
Korea
;
Liver Neoplasms
;
Liver
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
;
Hepatitis B, Chronic
;
Hepatitis, Chronic
;
Humans
;
Liver
8.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
9.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
;
Cooperative Behavior
;
Creatinine
;
Epidemiology
;
Female
;
Glomerular Filtration Rate
;
Humans
;
Renal Insufficiency, Chronic
10.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
;
Asthma
;
Continental Population Groups
;
Female
;
Forced Expiratory Volume
;
Humans
;
Lung
;
Lung Diseases
;
Phenotype
;
Prevalence
;
Pulmonary Disease, Chronic Obstructive
;
Thorax
;
Trachea
;
Vital Capacity

Result Analysis
Print
Save
E-mail