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.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.
4.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.
5.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.
6.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.
7.Strategies to Improve Smoking Cessation for Participants in Lung Cancer Screening Program: Analysis of Factors Associated with Smoking Cessation in Korean Lung Cancer Screening Project (K-LUCAS)
Yeol KIM ; Jaeho LEE ; Eunju LEE ; Juntae LIM ; Yonghyun KIM ; Choon-Taek LEE ; Seung Hun JANG ; Yu-Jin PAEK ; Won-Chul LEE ; Chan Wha LEE ; Hyae Young KIM ; Jin Mo GOO ; Kui Son CHOI ; Boyoung PARK ; Duk Hyoung LEE ; Hong Gwan SEO
Cancer Research and Treatment 2024;56(1):92-103
Purpose:
Smoking cessation intervention is one of the key components of successful lung cancer screening program. We investigated the effectiveness and related factors of smoking cessation services provided to the participants in a population-based lung cancer screening trial.
Materials and Methods:
The Korean Lung Cancer Screening Project (K-LUCAS) is a nationwide, multi-center lung cancer screening trial that evaluates the feasibility of implementing population-based lung cancer screening. All 5,144 current smokers who participated in the K-LUCAS received a mandatory smoking cessation counseling. Changes in smoking status were followed up using a telephone survey in 6 months after lung cancer screening participation. The lung cancer screening’s impact on smoking cessation is analyzed by variations in the smoking cessation interventions provided in screening units.
Results:
Among 4,136 survey responders, participant’s motivation to quit smoking increased by 9.4% on average after lung cancer screening. After 6 months from the initial screening, 24.3% of participants stopped smoking, and 10.6% of participants had not smoked continuously for at least 6 months after screening. Over 80% of quitters stated that participation in lung cancer screening motivated them to quit smoking. Low-cost public smoking cessation program combined with lung cancer screening increased the abstinence rates. The smokers were three times more likely to quit smoking when the smoking cessation counseling was provided simultaneously with low-dose computed tomography screening results than when provided separately.
Conclusion
A mandatory smoking cessation intervention integrated with screening result counselling by a physician after participation in lung cancer screening could be effective for increasing smoking cessation attempts.
8.Secondary Malignancies in Multiple Myeloma in Korean Patients: A Nationwide Population-Based Study
Boyoung PARK ; Eunyoung LEE ; Junghyun YOON ; YoungJu PARK ; Hyeon-Seok EOM
Cancer Research and Treatment 2024;56(3):936-944
Purpose:
This study investigated the incidence of secondary malignancy in multiple myeloma (MM) patients compared with that in the general population using a population-based database covering all residents in Korea.
Materials and Methods:
Based on the national health insurance system in Korea, all people primarily diagnosed with MM between January 1, 2010 to December 31, 2018 were identified. A total of 9,985 MM patients aged ≥ 20 years in Korea were included.
Results:
Among them, 237 (2.4%) developed secondary malignancies by 2018. The standardized incidence rates (SIRs) of all secondary malignancies in MM patients were 0.87 (95% confidence interval [CI], 0.76 to 0.98), with a higher incidence of hematologic malignancies than in the general population with an SIR of 3.80 (95% CI, 2.61 to 5.00). The incidence rates of both lymphoid malignancy (SIR, 3.56; 95% CI, 2.31 to 4.82) and myeloid malignancy (SIR, 3.78; 95% CI, 1.16 to 6.39) were higher in MM patients than in the general population. In contrast, a lower incidence of solid cancer was observed in MM patients than in the general population (SIR, 0.76, 95% CI, 0.65 to 0.86). There was no significant difference in survival in MM patients without secondary malignancies, with hematologic malignancy, and with solid cancer (p=0.413).
Conclusion
MM patients had a greater risk of secondary malignancies, especially hematologic malignancies, than the general population. Future studies with a focus on analyzing patients’ history, treatment details, and genetic information in various stages of MM patients are needed to better understand the mechanism behind this increased risk.
9.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.
10.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.

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