• Genomics & Informatics
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• v.16 no.2
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• pp.36-41
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• 2018

Kawasaki disease (KD) is an acute febrile vasculitis predominately affecting infants and children. The dominant incidence age of KD is from 6 months to 5 years of age, and the incidence is unusual in those younger than 6 months and older than 5 years of age. We tried to identify genetic variants specifically associated with KD in patients younger than 6 months or older than 5 years of age. We performed an age-stratified genome-wide association study using the Illumina HumanOmni1-Quad BeadChip data (296 cases vs. 1,000 controls) and a replication study (1,360 cases vs. 3,553 controls) in the Korean population. Among 26 candidate single nucleotide polymorphisms (SNPs) tested in replication study, only a rare nonsynonymous SNP (rs4365796: c.1106C>T, p.Thr369Met) in the lymphoid enhancer binding factor 1 (LEF1) gene was very significantly associated with KD in patients younger than 6 months of age (odds ratio [OR], 3.07; $p_{combined}=1.10{\times}10^{-5}$), whereas no association of the same SNP was observed in any other age group of KD patients. The same SNP (rs4365796) in the LEF1 gene showed the same direction of risk effect in Japanese KD patients younger than 6 months of age, although the effect was not statistically significant (OR, 1.42; p = 0.397). This result indicates that the LEF1 gene may play an important role as a susceptibility gene specifically affecting KD patients younger than 6 months of age.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.24-33
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• 2016

Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.

• Asian-Australasian Journal of Animal Sciences
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• v.33 no.12
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• pp.1896-1904
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• 2020

Objective: Estimating the genetic diversity and structures, both within and among chicken breeds, is critical for the identification and conservation of valuable genetic resources. In chickens, microsatellite (MS) marker polymorphisms have previously been widely used to evaluate these distinctions. Our objective was to analyze the genetic diversity and relationships among 22 chicken breeds in Asia based on allelic frequencies. Methods: We used 469 genomic DNA samples from 22 chicken breeds from eight Asian countries (South Korea, KNG, KNB, KNR, KNW, KNY, KNO; Laos, LYO, LCH, LBB, LOU; Indonesia, INK, INS, ING; Vietnam, VTN, VNH; Mongolia, MGN; Kyrgyzstan, KGPS; Nepal, NPS; Sri Lanka, SBC) and three imported breeds (RIR, Rhode Island Red; WLG, White Leghorn; CON, Cornish). Their genetic diversity and phylogenetic relationships were analyzed using 20 MS markers. Results: In total, 193 alleles were observed across all 20 MS markers, and the number of alleles ranged from 3 (MCW0103) to 20 (LEI0192) with a mean of 9.7 overall. The NPS breed had the highest expected heterozygosity (H_exp, 0.718±0.027) and polymorphism information content (PIC, 0.663±0.030). Additionally, the observed heterozygosity (H_obs) was highest in LCH (0.690±0.039), whereas WLG showed the lowest H_exp (0.372±0.055), H_obs (0.384±0.019), and PIC (0.325±0.049). Nei's DA genetic distance was the closest between VTN and VNH (0.086), and farthest between KNG and MGN (0.503). Principal coordinate analysis showed similar results to the phylogenetic analysis, and three axes explained 56.2% of the variance (axis 1, 19.17%; 2, 18.92%; 3, 18.11%). STRUCTURE analysis revealed that the 22 chicken breeds should be divided into 20 clusters, based on the highest ΔK value (46.92). Conclusion: This study provides a basis for future genetic variation studies and the development of conservation strategies for 22 chicken breeds in Asia.

• Pediatric Infection and Vaccine
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• v.30 no.3
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• pp.129-138
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• 2023

Purpose: Cancer incidence is known to be higher in patients with inborn errors of immunity (IEI) compared to the general population in addition to traditionally well-known infection susceptibility. We aimed to investigate cancer occurrence in patients with IEI in a single center. Methods: Medical records of IEI patients treated at Samsung Medical Center, Seoul, Korea were retrospectively reviewed from November 1994 to September 2023. Patients with IEI and cancer were identified. Results: Among 194 patients with IEI, seven patients (3.6%) were diagnosed with cancer. Five cases were lymphomas, 4 of which were Epstein-Barr virus (EBV)-associated lymphomas. The remaining cases included gastric cancer and multiple myeloma. The median age at cancer diagnosis was 18 years (range, 1-75 years). Among patients with cancer, underlying IEIs included X-linked lymphoproliferative disease-1 (XLP-1, n=3), activated phosphoinositide 3-kinase delta syndrome (APDS, n=2), and cytotoxic T-lymphocyte antigen 4 (CTLA-4) haploinsufficiency (n=2). Seventy-five percent (3/4) of XLP-1 patients, 40.0% (2/5) of APDS patients, and 50.0% (2/4) of CTLA-4 haplo-insufficiency patients developed cancer. Patients with XLP-1 developed cancer at earlier age (median age 5 years) compared to those with APDS and CTLA-4 (P<0.001). One patient with APDS died during hematopoietic cell transplantation. Conclusions: Cancer occurred in 3.6% of IEI patients at a single center in Korea. In addition to infectious complications and inflammation, physicians caring for IEI patients should be aware of the potential risk of cancer, especially in association with EBV infection.

• Journal of Korean Society of Forest Science
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• v.14 no.1
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• pp.1-20
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• 1972

The trend and achievements of forest genetics research in abroad were investigated through observation tours and reference work and following facts were found to be important aspects which should be adopted in the forest genetics research program in Korea. Because of world wide recognization on the urgency of taking a measure to reserve some areas of the representative forest type on the globe before the extingtion of such forest type as the results of continuous exploitations of the natural forests to meet the timber demand all over the world, it is urgently needed to take a measure to reserve certain areas of natural stand of Pinus koraiensis, Pinus parviflora, Pinus densiflora f. erectra, Abies koreana, Quercus sp., Populus sp., etc. as gene pool to be used for the future program of forest tree improvement. And the genetic studies of those natural forest of economic tree species are also to be performed. 1. Increase of the number of selected tree for breeding purpose. Because of the fact that the number of plus tree at present is too small to carry out selection program for tree improvement, particularly for the formation of source population for recurrent selection of parent trees of the 2nd generation seed orchard it is to be strongly emphasized to increase the number of plus tree by alleviating selection criteria in order to enlarge the population size of plus trees to make the selection program more efficient. 2. Progeny testing More stress should be placed on carrying out progeny testing of selected trees with open pollinated seeds. And particular efforts are to be made for conducting studies on adult/juvenile correlation of important traits with a view to enable to predict adult performances with some traits revealed in juvenile age thus to save time for progeny testing. 3. Genotype-environment interaction Studies on genotype and environment interaction should be conducted in order to elucidate whether the plus trees selected on the good site express their superiority on the poor site or not and how the environment affect the genotype. And the justification of present classification of seed distribution area should be examined. 4. Seed orchard of broad leaf tree species. Due to the difficulty of accurate comparison of growth rate of neighbouring trees of broad leaf tree species in natural stand, it is recommended that for the improvement of broad leaf trees a seedling seed orchard is to be made by roguing the progeny test plantation planted densely with control pollinated seedlings of selected trees. 5. Breeding for insect resistant varieties. In the light of the fact that the resistant characteristics against insect such as pine gall midge (Thiecodiplosis japonensis U. et I.) and pine bark beetle (Myelophilus pinipera L.) are highly correlated with the amount and quality of resin which are known as gene controlled characteristics, breeding for insect resistance should be carried out. 6. Breeding for timber properties. With the tree species for pulp wood in particular, emphasis should be placed upon breeding for high specific gravity of timber. 7. Introduction of Cryptomeria and Japanese Cypress In the light of the fact that the major clones of Cryptomeria are originated from Yoshino source and are being planted up to considerably north and high elevation in Japan, those species should be examined on their cold resistance in Korea by planting them in further northern part of the country.

• Asian-Australasian Journal of Animal Sciences
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• v.27 no.4
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• pp.457-463
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• 2014

Ultrasound measurements of backfat thickness (UBF), longissimus muscle area (ULMA) and marbling score (UMS) and carcass measurements of carcass weight (CW), backfat thickness (BF), longissimus muscle area (LMA), and marbling score (MS) on 7,044 Hanwoo steers were analyzed to estimate genetic parameters. Data from Hanwoo steers that were raised, finished in Hoengseong-gun, Gangwon-do (province) and shipped to slaughter houses during the period from October 2010 to April 2013 were evaluated. Ultrasound measurements were taken at approximately three months before slaughter by an experienced operator using a B-mode real-time ultrasound device (HS-2000, FHK Co. Ltd., Tokyo, Japan) with a 3.5 MHz linear probe. Ultrasound scanning was on the left side between 13th rib and the first lumbar vertebrae. All slaughtering processes and carcass evaluations were performed in accordance with the guidelines of beef grading system of Korea. To estimate genetic parameters, multiple trait animal models were applied. Fixed effects included in the models were: the effects of farm, contemporary group effects (year-season at the time of ultrasound scanning in the models for UBF, ULMA, and UMS, and year-season at slaughter in the models for CW, BF, LMA, and MS), the effects of ultrasound technicians as class variables and the effects of the age in days at ultrasound scanning or at slaughtering as linear covariates, respectively for ultrasound and carcass measures. Heritability estimates obtained from our analyses were 0.37 for UBF, 0.13 for ULMA, 0.27 for UMS, 0.44 for CW, 0.33 for BF, 0.36 for LMA and 0.54 MS, respectively. Genetic correlations were strongly positive between corresponding traits of ultrasound and carcass measures. Genetic correlation coefficient between UBF and BF estimate was 0.938, between ULMA and LMA was 0.767 and between UMS and MS was 0.925. These results suggest that ultrasound measurement traits are genetically similar to carcass measurement traits.

• Journal of Conservation Science
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• v.26 no.1
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• pp.95-107
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• 2010

Biochemical research was carried out on 4 human skeletal remains from historical lime-layered tombs assigned to the Joseon Dynasty in Oknam-ri, Seocheon. The preservation of femur was evaluated by stereoscopic microscopy and scanning electron microscopy. Most of specimens showed good histological preservation. The histological results proved to be a good potentiality for biochemical analysis using bio-molecules. The amelogenin gene and mitochondrial DNA (mtDNA) analyses revealed that three specimens perhaps have maternal consanguinity due to sharing with mtDNA haplogroup D4b1, and two specimens buried in the same tomb were a couple in Gatjaegol site. Carbon and nitrogen stable isotope analysis indicated that four deads diet were built around C3 plant as rice, barley, wheat and bean. In this study we characterized genetic and diet features from the social stratum who could make lime-layered tombs during period of the Joseon Dynasty. The results suggest that biochemical research using the human skeletal remains from the Joseon Dynasty has the great potential and reasonable value for archaeology, anthropology, and population genetics.

• Asian-Australasian Journal of Animal Sciences
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• v.33 no.3
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• pp.382-389
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• 2020

Objective: This study was conducted to test the efficiency of genomic selection for milk production traits in a Korean Holstein cattle population. Methods: A total of 506,481 milk production records from 293,855 animals (2,090 heads with single nucleotide polymorphism information) were used to estimate breeding value by single step best linear unbiased prediction. Results: The heritability estimates for milk, fat, and protein yields in the first parity were 0.28, 0.26, and 0.23, respectively. As the parity increased, the heritability decreased for all milk production traits. The estimated generation intervals of sire for the production of bulls (L_SB) and that for the production of cows (L_SC) were 7.9 and 8.1 years, respectively, and the estimated generation intervals of dams for the production of bulls (L_DB) and cows (L_DC) were 4.9 and 4.2 years, respectively. In the overall data set, the reliability of genomic estimated breeding value (GEBV) increased by 9% on average over that of estimated breeding value (EBV), and increased by 7% in cows with test records, about 4% in bulls with progeny records, and 13% in heifers without test records. The difference in the reliability between GEBV and EBV was especially significant for the data from young bulls, i.e. 17% on average for milk (39% vs 22%), fat (39% vs 22%), and protein (37% vs 22%) yields, respectively. When selected for the milk yield using GEBV, the genetic gain increased about 7.1% over the gain with the EBV in the cows with test records, and by 2.9% in bulls with progeny records, while the genetic gain increased by about 24.2% in heifers without test records and by 35% in young bulls without progeny records. Conclusion: More genetic gains can be expected through the use of GEBV than EBV, and genomic selection was more effective in the selection of young bulls and heifers without test records.

• Journal of muscle and joint health
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• v.6 no.2
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• pp.226-241
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• 1999

This study was undertaken to find out the causal perception of rheumatoid arthritis patients, and to understand the typology. The Q-population consisted of 236 statements of causal perception were collected. Thirty eight Q-samples of causal perception were selected. The P-sample for this study were made up of 28 first visiting female rheumatoid arthritis patients from a rheumatoid arthritis specialty hospital. Each respondent responded Q-set of causal perception according to 9-point scale. The result of Q-sorting were coded and analyzed using QUANL PC program. 1) Typological Observation on Causal Perception (1) Physical Fatigue Type : Type 1 perceived that the illness occurred due to excessive work requiring physical labor or strain that had occurred from not resting after excessive physical labor, therefore, thinking the origin of the illness was from physical strain. (2) Physical origin Type : Type 2 perceived that the major cause for the illness is not only excessive physical labour but also fecundity and old age. (3) Causality to Environment Type : Type 3 perceived that rheumatoid arthritis occurred from injury to the joints or bad and humid weather. (4) Conscience of Guilty Type : Type 4 consisted of people with guilty conscience for lack of religious commitment. They perceived that the illness was a punishment from God for not praying or because of bad luck. (5) Rationally Perceiving Type : People who belong in type 5 perceived the cause of illness in light of scientific facts such as genetics, unbalanced diet or lack of exercise. (6) Psychological Stress Type : People who belong in type 6 believed that excessive stress was the cause of the illness. 2) Emotions of Rheumatoid arthritis patients Rheumatoid arthritis patients' positive emotions included determination, courage, coping, acceptance, hope, and adoption ; and their negative emotions were prostration, worry, stupor, conflicts, grievance, giving-up, resignation, depression, loss, solitariness, fear, anxiety, avoidance, anger and loneliness. Rheumatoid arthritis patients experience different level of emotions from their suffering experience from the severe pains. Rheumatoid arthritis patients also experience negative emotions when they could not perform self-care and lose their self-esteem from painful suffering ; however, they regain positive emotions when they recover from pain with the use of drugs, physical therapy or exercise. Their emotional states are closely connected to level of and presence of pain.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.18 no.3
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• pp.187-192
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• 2015

Purpose: Measurement of serum ceruloplasmin level is the first step in screening for Wilson's disease (WD). Despite the rarity of WD in the general population, ceruloplasmin levels are routinely measured through hepatitis screening in both adults and children. Herein, we evaluated the diagnostic value of ceruloplasmin for the diagnosis of WD among children with hepatitis. Methods: We retrospectively reviewed data on serum ceruloplasmin levels measured as a serologic marker for patients with hepatitis at Asan Medical Center (Seoul, Korea) between from January 2004 to November 2013. The diagnosis of WD was confirmed by the identification of pathogenic variants in the ATP7B gene. To determine the diagnostic accuracy of ceruloplasmin, receiver operation characteristic (ROC) curves were constructed and the area under curve (AUC) were calculated. Results: Measurements of serum ceruloplasmin were performed in 2,834 children who had hepatitis. Among these, 181 (6.4%) children were diagnosed with WD. The sensitivity, specificity, and accuracy of a ceruloplasmin level of <20 mg/dL in the discrimination of WD were 93.4%, 84.2%, and 84.8%, respectively. In this study, 418 (14.7%) false-positive cases and 12 (0.4%) false-negative cases were noted. Using a ROC curve, a ceruloplasmin level of ${\leq}16.6mg/dL$ showed the highest AUC value (0.956) with a sensitivity of 91.2%, a specificity of 94.9%, and an accuracy of 94.7%. Conclusion: The measurement of serum ceruloplasmin was frequently used for the screening of WD in children, despite a low positive rate. The diagnostic value of ceruloplasmin may be strengthened by adopting a new lower cut-off level.