High frequencies of Y-chromosome haplogroup O2b-SRY465 lineages in Korea: a genetic perspective on the peopling of Korea

<p>Abstract</p> <p>Background</p> <p>Koreans are generally considered a Northeast Asian group, thought to be related to Altaic-language-speaking populations. However, recent findings have indicated that the peopling of Korea might have been more complex, involving dual origins from both southern and northern parts of East Asia. To understand the male lineage history of Korea, more data from informative genetic markers from Korea and its surrounding regions are necessary. In this study, 25 Y-chromosome single nucleotide polymorphism markers and 17 Y-chromosome short tandem repeat (Y-STR) loci were genotyped in 1,108 males from several populations in East Asia.</p> <p>Results</p> <p>In general, we found East Asian populations to be characterized by male haplogroup homogeneity, showing major Y-chromosomal expansions of haplogroup O-M175 lineages. Interestingly, a high frequency (31.4%) of haplogroup O2b-SRY465 (and its sublineage) is characteristic of male Koreans, whereas the haplogroup distribution elsewhere in East Asian populations is patchy. The ages of the haplogroup O2b-SRY465 lineages (~9,900 years) and the pattern of variation within the lineages suggested an ancient origin in a nearby part of northeastern Asia, followed by an expansion in the vicinity of the Korean Peninsula. In addition, the coalescence time (~4,400 years) for the age of haplogroup O2b1-47z, and its Y-STR diversity, suggest that this lineage probably originated in Korea. Further studies with sufficiently large sample sizes to cover the vast East Asian region and using genomewide genotyping should provide further insights.</p> <p>Conclusions</p> <p>These findings are consistent with linguistic, archaeological and historical evidence, which suggest that the direct ancestors of Koreans were proto-Koreans who inhabited the northeastern region of China and the Korean Peninsula during the Neolithic (8,000-1,000 BC) and Bronze (1,500-400 BC) Ages.</p

The cascade of care for latent tuberculosis infection in congregate settings:a national cohort 1 analysis, Korea, 2017-18

BACKGROUND: In 2017, Korea implemented a nationwide project to screen and treat latent tuberculosis infection (LTBI) in high-risk for transmission public congregate settings. We aimed to assess programme success using a cascade of care framework. MATERIALS AND METHODS: We undertook a cohort study of people from three congregate settings screened between March 2017 and December 2018: (1) first-grade high school students, (2) employees of educational institutions, (3) employees of social welfare facilities. We report percentages of participants with LTBI completing each step in the cascade of care model. Poisson regression models were used to determine factors associated with not visiting clinics, not initiating treatment, and not completing treatment. RESULTS: Among the 96,439 participants who had a positive interferon-gamma release assay result, the percentage visiting clinics for further assessment, to initiate treatment, and who then completed treatment were 50.7, 34.7, and 28.9%, respectively. Compared to those aged 20-34 years, individuals aged < 20 years and aged ≥ 65 years were less likely to visit clinics, though more likely to complete treatment once initiated. Using public health centres rather than private hospitals was associated with people "not initiating treatment" (adjusted risk ratio [aRR], 3.72; 95% confidence interval [CI], 3.95-3.86). Nine-month isoniazid monotherapy therapy was associated with "not completing treatment," compared to 3-month isoniazid and rifampin therapy (aRR, 1.28; 95% CI, 1.16-1.41). CONCLUSION: Among participants with LTBI from three congregate settings, less than one third completed treatment. Age, treatment centre, and initial regimen were important determinants of losses to care through the cascade

A Case of Cogan's Syndrome With Angina

Cogan's syndrome is a rare systemic inflammatory disease and can be diagnosed on the basis of typical inner ear and ocular involvement with the presence of large vessel vasculitis. We report a case of Cogan's syndrome with stable angina resulting from coronary ostial stenosis caused by aortitis

Development of the Korean Academy of Medical Sciences Guideline for Rating Physical Impairment

Systematic and effective welfare for the disabled is possible when there are scientific and objective criteria demonstrating either presence or severity of the impairment. We need our own scientific criteria suitable for our culture and society, since the impairment is influenced by them. In 2007, we established the Developing Committee of Korean Academy of Medical Sciences (KAMS) Guideline for Impairment Rating under KAMS supervision. We included all fixed and permanent physical impairments after a sufficient medical treatment. The impairment should be stable and medically measurable. If not, it should be reevaluated later. We benchmarked the American Medical Association Guides. The KAMS Guideline should be scientific, objective, valid, reasonable and practical. In particular, we tried to secure objectivity. We developed the KAMS Guideline for Impairment Rating

Phylogeography of the endangered orchids Cypripedium japonicum and Cypripedium formosanum in East Asia: Deep divergence at infra- and interspecific levels

To date, little is known about the past evolutionary trajectories of rare and endangered orchids native to mainland China, Japan, and Korea (the CJK region). In this study, we focus on two endangered orchids, Cypripedium japonicum (present in the three countries) and C. formosanum (endemic to Taiwan), to understand the divergence/speciation models that would have been operating in this group, including genetic diversity, geographic structure, and colonization pathways across the region. Using a combination of five cpDNA regions, we reconstructed phylogenetic trees and investigated the genetic diversity/structure of 20 populations. Ecological niche modeling was used to gain insight into the paleodistribution and dispersal corridors at the Last Glacial Maximum and to survey climatic niche differences. Populations from mainland China + Korea, Japan, and Taiwan formed three distinct monophyletic lineages and were placed into separate genetic clusters, agreeing with geographic barriers and species boundaries. Populations of C. japonicum in mainland China harbored the highest diversity, suggesting the presence of multiple glacial refugia. The Korean populations would have originated from either western/central or eastern China, probably using a dispersal corridor across the East China Sea shelf. The divergence of C. formosanum is proposed under an allopatric speciation model, also highly influenced by a climate niche shift. In the context of previous studies, a deep divergence in cpDNA sequences between Chinese + Korean and Japanese populations of C. japonicum may be taken as an example of the speciation events of the CJK flora since the late Neogene that have led to its current species richness.This study was supported by the Biodiversity Survey, Observation and Assessment Program of the Ministry of Ecology and Environment of China to HZT and by Basic Science Program through the National Research Foundation of Korea (NRF-2017R1A2B4012215) to MGC, and funded by the Ministry of Science and ICT of the Republic of Korea (NRF-2020R1I1A3074635) to MYC.INTRODUCTION MATERIALS AND METHODS Study species Population sampling DNA extraction cpDNA-PCR optimum primer selection cpDNA sequence alignment and assembly Haplotype distribution, phylogenetic analyses, and genetic diversity Genetic differentiation and structure Mismatch distribution analysis, neutrality detection, and demographic history ENM and population connectivity Niche comparisons in E-space RESULTS Haplotype distribution and phylogeny Genetic diversity Genetic differentiation and structure Mismatch distribution analysis, neutrality detection, and demographic history ENM and population connectivity Niche comparisons in E-space DISCUSSION Deep genetic and climatic divergence of Cypripedium sect. Flabellinervia in the CJK region: taxonomic considerations Haplotype and nucleotide diversity in Cypripedium sect. Flabellinervia: inference of glacial refugia and demographic history Origin of Korean populations of Cypripedium japonicum Origin of Cypripedium formosanum CONCLUSIONS AUTHOR CONTRIBUTIONS ACKNOWLEDGEMENTS Appendix 1: The cpDNA sequence information of Cypripedium sect. Flabellinervia deposited in the GenBank databas