1.Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans
Jong Eun PARK ; Taeheon LEE ; Eun Hye CHO ; Mi-Ae JANG ; Dongju WON ; Boyoung PARK ; Chang-Seok KI ; Sun-Young KONG
Annals of Laboratory Medicine 2025;45(1):77-84
Background:
MUTYH-associated polyposis is an autosomal recessive disorder associated with an increased lifetime risk of colorectal cancer and a moderately increased risk of ovarian, bladder, breast, and endometrial cancers. We analyzed the carrier frequency and estimated the incidence of MUTYH-associated polyposis in East Asian and Korean populations, for which limited data were previously available.
Methods:
We examined 125,748 exomes from the gnomAD database, including 9,197 East Asians, and additional data from 5,305 individuals in the Korean Variant Archive and 1,722 in the Korean Reference Genome Database. All MUTYH variants were interpreted according to the American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines and the Sequence Variant Interpretation guidelines from ClinGen.
Results:
The global carrier frequency of MUTYH-associated polyposis was 1.29%, with Europeans (non-Finnish) having the highest frequency of 1.86% and Ashkenazi Jews the lowest at 0.06%. East Asians and Koreans had a carrier frequency of 0.35% and 0.37% and an estimated incidence of 1 in 330,409 and 1 in 293,304 in Koreans, respectively, which were substantially lower than the global average of 1 in 24,160 and the European (nonFinnish) incidence of 1 in 11,520.
Conclusions
This was the first study to investigate the frequency of carriers of MUTYH-associated polyposis in East Asians, including specific subgroups, utilizing gnomAD and a Korean genome database. Our data provide valuable reference information for future investigations of MUTYH-associated polyposis to understand the genetic diversity and specific variants associated with this condition in East Asian populations.
2.Cohort study profile: a cohort of Korean atomic bomb survivors and their offspring
Hamin LEE ; Jin-Wu NAM ; Mi Kyung KIM ; Inah KIM ; Yu-Mi KIM ; Boyoung PARK
Epidemiology and Health 2024;46(1):e2024089-
The Korean Atomic Bomb Survivor Cohort (K-ABC) study was designed to investigate the health impacts of atomic bomb exposure on Korean survivors and to explore whether these effects are passed down genetically to their descendants. This paper outlines the study’s design, data collection methods, baseline socio-demographic characteristics, exposure status, and disease prevalence among the participants, based on survey responses and health examinations. From 2020 to 2024, a total of 2,544 individuals, comprising 1,109 atomic bomb survivors (G1), 1,193 children of G1 (G2), and 242 grandchildren of G1 (G3), consented to participate in the study. Of these, 1,828 participants (659 in G1, 927 in G2, and 242 in G3) completed the survey and underwent health examinations, representing a participation rate of 71.9%. Exposure information was gathered using a questionnaire and verified through records from the Korean Red Cross and a handbook issued by the Japanese government. Disease prevalence was determined based on participants’ self-reported physician diagnoses. This study presents details about the K-ABC study and provides baseline data on the participants recruited. These data will be valuable for interpreting the results of future K-ABC studies.
3.Unleashing the Power of Undifferentiated Induced Pluripotent Stem Cell Bioprinting: Current Progress and Future Prospects
Boyoung KIM ; Jiyoon KIM ; Soah LEE
International Journal of Stem Cells 2024;17(1):38-50
Induced pluripotent stem cell (iPSC) technology has revolutionized various fields, including stem cell research, disease modeling, and regenerative medicine. The evolution of iPSC-based models has transitioned from conventional two-dimensional systems to more physiologically relevant three-dimensional (3D) models such as spheroids and organoids.Nonetheless, there still remain challenges including limitations in creating complex 3D tissue geometry and structures, the emergence of necrotic core in existing 3D models, and limited scalability and reproducibility. 3D bioprinting has emerged as a revolutionary technology that can facilitate the development of complex 3D tissues and organs with high scalability and reproducibility. This innovative approach has the potential to effectively bridge the gap between conventional iPSC models and complex 3D tissues in vivo. This review focuses on current trends and advancements in the bioprinting of iPSCs. Specifically, it covers the fundamental concepts and techniques of bioprinting and bioink design, reviews recent progress in iPSC bioprinting research with a specific focus on bioprinting undifferentiated iPSCs, and concludes by discussing existing limitations and future prospects.
4.The Effects of Radiofrequency Catheter Ablation for Atrial Fibrillation on Right Ventricular Function
Minkwan KIM ; Jae-Sun UHM ; Je-Wook PARK ; SungA BAE ; In Hyun JUNG ; Seok-Jae HEO ; Daehoon KIM ; Hee Tae YU ; Tae-Hoon KIM ; Boyoung JOUNG ; Moon-Hyoung LEE
Korean Circulation Journal 2024;54(4):203-217
Background:
and Objective: The effects of radiofrequency catheter ablation (RFCA) for atrial fibrillation (AF) on right ventricular (RV) function are not well known.
Methods:
Patients who underwent RFCA for AF and underwent pre- and post-procedural echocardiography were enrolled consecutively. Fractional area change (FAC), RV free-wall longitudinal strain (RVFWSL), and RV 4-chamber strain including the ventricular septum (RV4CSL) were measured. Changes in FAC, RVFWSL, and RV4CSL before and after RFCA were compared among paroxysmal AF (PAF), persistent AF (PeAF), and long-standing persistent AF (LSPeAF) groups.
Results:
A total of 164 participants (74 PAF, 47 PeAF, and 43 LSPeAF; age, 60.8 ± 9.8 years;men, 74.4%) was enrolled. The patients with PeAF and LSPeAF had worse RV4CSL (p<0.001) and RVFWSL (p<0.001) than those with PAF and reference values. Improvements in RVFWSL and RV4CSL after RFCA were significant in the PeAF group compared with the PAF and LSPeAF groups (ΔRV4CSL, 8.4% [5.1, 11.6] in PeAF vs. 1.0% [−1.0, 4.1] in PAF, 1.9% [−0.2, 4.4] in LSPeAF, p<0.001; ΔRVFWSL, 9.0% [6.9, 11.5] in PeAF vs. 0.9% [−1.4, 4.9] in PAF, 1.0% [−1.0, 3.6] in LSPeAF, p<0.001). In patients without recurrence, improvements in RVFWSL and RV4CSL after RFCA were significant in the PeAF group compared to the LSPeAF group.
Conclusions
RV systolic function is more impaired in patients with PeAF and LSPeAF than in those with PAF. RV systolic function is more improved after RFCA in patients with PeAF than in those with PAF or LSPeAF.
5.Association between Obesity and Heart Failure and Related Atrial Fibrillation: Patient-Level Data Comparisons of Two Cohort Studies
Young Shin LEE ; Pil-Sung YANG ; Eunsun JANG ; Daehoon KIM ; Hee Tae YU ; Tae-Hoon KIM ; Jae-Sun UHM ; Jung-Hoon SUNG ; Hui-Nam PAK ; Moon-Hyoung LEE ; Boyoung JOUNG
Yonsei Medical Journal 2024;65(1):10-18
Purpose:
Heart failure (HF) and atrial fibrillation (AF) frequently coexist, with over 50% patients with HF having AF, while onethird of those with AF develop HF. Differences in obesity-mediated association between HF and HF-related AF among Asians and Europeans were evaluated.
Materials and Methods:
Using the Korean National Health Insurance Service-Health Screening (K-NHIS-HealS) cohort and the UK Biobank, we included 394801 Korean and 476883 UK adults, respectively aged 40–70 years. The incidence and risk of HF were evaluated based on body mass index (BMI).
Results:
The proportion of obese individuals was significantly higher in the UK Biobank cohort than in the K-NHIS-HealS cohort (24.2% vs. 2.7%, p<0.001). The incidence of HF and HF-related AF was higher among the obese in the UK than in Korea. The risk of HF was higher among the British than in Koreans, with adjusted hazard ratios of 1.82 [95% confidence interval (CI), 1.30–2.55] in KNHIS-HealS and 2.00 (95% CI, 1.69–2.37) in UK Biobank in obese participants (p for interaction <0.001). A 5-unit increase in BMI was associated with a 44% greater risk of HF-related AF in the UK Biobank cohort (p<0.001) but not in the K-NHIS-HealS cohort (p=0.277).
Conclusion
Obesity was associated with an increased risk of HF and HF-related AF in both Korean and UK populations. The higher incidence in the UK population was likely due to the higher proportion of obese individuals.
6.Open Trial of a Brief Imagery-Based Stabilization Psychotherapy for Adults with Acute Posttraumatic Stress Disorder
Boyoung SON ; Daeho KIM ; Hyunji LEE ; Ji Young MIN ; Jiyoung HONG
Yonsei Medical Journal 2024;65(10):588-595
Purpose:
Early intervention after trauma is needed for reduction in clinical distress and prevention of chronic posttraumatic stress disorder (PTSD). This study describes findings from an open pilot trial of a brief stabilization psychotherapy based on imagery techniques for adults with acute PTSD (i.e., within 3 months of onset).
Materials and Methods:
Four sessions of 60-minute individual psychotherapy were conducted on 18 participants with PTSD within 3 months after accidents, 15 of whom completed the treatment. The clinician-administered PTSD scale for Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), the Hamilton Depression and Anxiety Rating Scales, and self-questionnaires were administered at pre-treatment, post-treatment, and 6-month follow-up.
Results:
Eight (53.3%) of the 15 patients at post-treatment and 8 of the 9 patients at 6-month follow-up did not meet the DSM-5 criteria for PTSD. Reliable change of PTSD symptoms after treatment was observed in 6 of 15 (45.0%) patients at post-treatment and in 4 of 9 (45.0%) patients after 6 months. There was a significant decrease in PTSD, depression, anxiety, and impaired quality of life scores after treatment, and these gains were maintained after 6 months. No cases of exacerbated PTSD symptoms were observed among completers and non-completers.
Conclusion
Our findings suggest that brief stabilization sessions are safe treatment options for acute PTSD (KCT0001918).
7.Cohort study profile: a cohort of Korean atomic bomb survivors and their offspring
Hamin LEE ; Jin-Wu NAM ; Mi Kyung KIM ; Inah KIM ; Yu-Mi KIM ; Boyoung PARK
Epidemiology and Health 2024;46(1):e2024089-
The Korean Atomic Bomb Survivor Cohort (K-ABC) study was designed to investigate the health impacts of atomic bomb exposure on Korean survivors and to explore whether these effects are passed down genetically to their descendants. This paper outlines the study’s design, data collection methods, baseline socio-demographic characteristics, exposure status, and disease prevalence among the participants, based on survey responses and health examinations. From 2020 to 2024, a total of 2,544 individuals, comprising 1,109 atomic bomb survivors (G1), 1,193 children of G1 (G2), and 242 grandchildren of G1 (G3), consented to participate in the study. Of these, 1,828 participants (659 in G1, 927 in G2, and 242 in G3) completed the survey and underwent health examinations, representing a participation rate of 71.9%. Exposure information was gathered using a questionnaire and verified through records from the Korean Red Cross and a handbook issued by the Japanese government. Disease prevalence was determined based on participants’ self-reported physician diagnoses. This study presents details about the K-ABC study and provides baseline data on the participants recruited. These data will be valuable for interpreting the results of future K-ABC studies.
8.Cohort study profile: a cohort of Korean atomic bomb survivors and their offspring
Hamin LEE ; Jin-Wu NAM ; Mi Kyung KIM ; Inah KIM ; Yu-Mi KIM ; Boyoung PARK
Epidemiology and Health 2024;46(1):e2024089-
The Korean Atomic Bomb Survivor Cohort (K-ABC) study was designed to investigate the health impacts of atomic bomb exposure on Korean survivors and to explore whether these effects are passed down genetically to their descendants. This paper outlines the study’s design, data collection methods, baseline socio-demographic characteristics, exposure status, and disease prevalence among the participants, based on survey responses and health examinations. From 2020 to 2024, a total of 2,544 individuals, comprising 1,109 atomic bomb survivors (G1), 1,193 children of G1 (G2), and 242 grandchildren of G1 (G3), consented to participate in the study. Of these, 1,828 participants (659 in G1, 927 in G2, and 242 in G3) completed the survey and underwent health examinations, representing a participation rate of 71.9%. Exposure information was gathered using a questionnaire and verified through records from the Korean Red Cross and a handbook issued by the Japanese government. Disease prevalence was determined based on participants’ self-reported physician diagnoses. This study presents details about the K-ABC study and provides baseline data on the participants recruited. These data will be valuable for interpreting the results of future K-ABC studies.
9.Cohort study profile: a cohort of Korean atomic bomb survivors and their offspring
Hamin LEE ; Jin-Wu NAM ; Mi Kyung KIM ; Inah KIM ; Yu-Mi KIM ; Boyoung PARK
Epidemiology and Health 2024;46(1):e2024089-
The Korean Atomic Bomb Survivor Cohort (K-ABC) study was designed to investigate the health impacts of atomic bomb exposure on Korean survivors and to explore whether these effects are passed down genetically to their descendants. This paper outlines the study’s design, data collection methods, baseline socio-demographic characteristics, exposure status, and disease prevalence among the participants, based on survey responses and health examinations. From 2020 to 2024, a total of 2,544 individuals, comprising 1,109 atomic bomb survivors (G1), 1,193 children of G1 (G2), and 242 grandchildren of G1 (G3), consented to participate in the study. Of these, 1,828 participants (659 in G1, 927 in G2, and 242 in G3) completed the survey and underwent health examinations, representing a participation rate of 71.9%. Exposure information was gathered using a questionnaire and verified through records from the Korean Red Cross and a handbook issued by the Japanese government. Disease prevalence was determined based on participants’ self-reported physician diagnoses. This study presents details about the K-ABC study and provides baseline data on the participants recruited. These data will be valuable for interpreting the results of future K-ABC studies.
10.Coadministration of 6-Shogaol and Levodopa Alleviates Parkinson’s Disease-Related Pathology in Mice
Jin Hee KIM ; Jin Se KIM ; In Gyoung JU ; Eugene HUH ; Yujin CHOI ; Seungmin LEE ; Jun-Young CHO ; Boyoung Y. PARK ; Myung Sook OH
Biomolecules & Therapeutics 2024;32(5):523-530
Parkinson’s disease (PD) is a neurodegenerative disease caused by the death of dopaminergic neurons in the nigrostriatal pathway, leading to motor and non-motor dysfunctions, such as depression, olfactory dysfunction, and memory impairment. Although levodopa (L-dopa) has been the gold standard PD treatment for decades, it only relieves motor symptoms and has no effect on non-motor symptoms or disease progression. Prior studies have reported that 6-shogaol, the active ingredient in ginger, exerts a protective effect on dopaminergic neurons by suppressing neuroinflammation in PD mice. This study investigated whether cotreatment with 6-shogaol and L-dopa could attenuate both motor and non-motor symptoms and dopaminergic neuronal damage.Both 6-shogaol (20 mg/kg) and L-dopa (80 mg/kg) were orally administered to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine/probenecid-induced PD model mice for 26 days. The experimental results showed that L-dopa alleviated motor symptoms, but had no significant effect on non-motor symptoms, loss of dopaminergic neuron, or neuroinflammation. However, when mice were treated with 6-shogaol alone or in combination with L-dopa, an amelioration in both motor and non-motor symptoms such as depressionlike behavior, olfactory dysfunction and memory impairment was observed. Moreover, 6-shogaol-only or co-treatment of 6-shogaol with L-dopa protected dopaminergic neurons in the striatum and reduced neuroinflammation in the striatum and substantia nigra.Overall, these results suggest that 6-shogaol can effectively complement L-dopa by improving non-motor dysfunction and restoring dopaminergic neurons via suppressing neuroinflammation.

Result Analysis
Print
Save
E-mail