1.Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis
Boram KIM ; Seung Hun LEE ; Chang Ho AHN ; Han Na JANG ; Sung Im CHO ; Jee-Soo LEE ; Yu-Mi LEE ; Su-Jin KIM ; Tae-Yon SUNG ; Kyu Eun LEE ; Woochang LEE ; Jung-Min KOH ; Moon-Woo SEONG ; Jung Hee KIM
Endocrinology and Metabolism 2024;39(6):956-964
Background:
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene. This study analyzed the clinical and genetic features of MEN1 in a Korean cohort, identifying prevalent manifestations and genetic variants, including novel variants.
Methods:
This multicenter retrospective study reviewed the medical records of 117 MEN1 patients treated at three tertiary centers in Korea between January 2012 and September 2022. Patient demographics, tumor manifestations, outcomes, and MEN1 genetic testing results were collected. Variants were classified using American College of Medical Genetics and Genomics (ACMG) and French Oncogenetics Network of Neuroendocrine Tumors propositions (TENGEN) guidelines.
Results:
A total of 117 patients were enrolled, including 55 familial cases, with a mean age at diagnosis of 37.4±15.3 years. Primary hyperparathyroidism was identified as the most common presentation (84.6%). The prevalence of gastroenteropancreatic neuroendocrine tumor and pituitary neuroendocrine tumor (PitNET) was 77.8% (n=91) and 56.4% (n=66), respectively. Genetic testing revealed 61 distinct MEN1 variants in 101 patients, with 18 being novel. Four variants were reclassified according to the TENGEN guidelines. Patients with truncating variants (n=72) exhibited a higher prevalence of PitNETs compared to those with non-truncating variants (n=25) (59.7% vs. 36.0%, P=0.040).
Conclusion
The association between truncating variants and an increased prevalence of PitNETs in MEN1 underscores the importance of genetic characterization in guiding the clinical management of this disease. Our study sheds light on the clinical and genetic characteristics of MEN1 among the Korean population.
2.Sex-specific associations between dietary legume subtypes and type 2 diabetes in a prospective cohort study
Hye Won WOO ; Sangmo HONG ; Min-Ho SHIN ; Sang Baek KOH ; Hyeon Chang KIM ; Yu-Mi KIM ; Mi Kyung KIM
Epidemiology and Health 2024;46(1):e2024083-
OBJECTIVES:
Dietary soy, known for its high phytoestrogen content, has been suggested to exhibit a sex-specific association with type 2 diabetes. However, evidence regarding the sex-specific associations of different legume subtypes with type 2 diabetes remains scarce. We aimed to evaluate whether habitual consumption of soy and non-soy legumes (beans and peanuts) was prospectively and sex-specifically associated with the risk of type 2 diabetes incidence, taking into considering significant sex-specific genetic factors beyond legume consumption.
METHODS:
A total of 16,666 participants (96,945 person-years) were followed and 945 incident cases were observed. Cumulative intake of legume subtypes was calculated using a food frequency questionnaire administered at baseline and during the revisit surveys.
RESULTS:
Non-soy legumes are inversely associated with type 2 diabetes in both men and women. Dietary soy intake, however, demonstrated a unilaterally interacting sex-specific association with type 2 diabetes risk (pinteraction for sex=0.017). Specifically, there was a significant inverse association with type 2 diabetes risk in women (incidence rate ratio, 0.66; 95% confidence interval, 0.48 to 0.80; ptrend=0.007), but no such association was observed in men. This sex-specific association persisted and even appeared antagonistic in minor allele carriers of 2 novel single nucleotide polymorphisms, rs10196939 (LRRTM4) and rs11750158 (near GFPT2) (pinteraction for sex=0.001 and 0.011, respectively).
CONCLUSIONS
Habitual consumption of legumes shows protective impacts against type 2 diabetes, although these benefits vary by sex. Non-soy legumes provide health advantages for both men and women, whereas soy consumption seems to be beneficial exclusively for women.
3.Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis
Boram KIM ; Seung Hun LEE ; Chang Ho AHN ; Han Na JANG ; Sung Im CHO ; Jee-Soo LEE ; Yu-Mi LEE ; Su-Jin KIM ; Tae-Yon SUNG ; Kyu Eun LEE ; Woochang LEE ; Jung-Min KOH ; Moon-Woo SEONG ; Jung Hee KIM
Endocrinology and Metabolism 2024;39(6):956-964
Background:
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene. This study analyzed the clinical and genetic features of MEN1 in a Korean cohort, identifying prevalent manifestations and genetic variants, including novel variants.
Methods:
This multicenter retrospective study reviewed the medical records of 117 MEN1 patients treated at three tertiary centers in Korea between January 2012 and September 2022. Patient demographics, tumor manifestations, outcomes, and MEN1 genetic testing results were collected. Variants were classified using American College of Medical Genetics and Genomics (ACMG) and French Oncogenetics Network of Neuroendocrine Tumors propositions (TENGEN) guidelines.
Results:
A total of 117 patients were enrolled, including 55 familial cases, with a mean age at diagnosis of 37.4±15.3 years. Primary hyperparathyroidism was identified as the most common presentation (84.6%). The prevalence of gastroenteropancreatic neuroendocrine tumor and pituitary neuroendocrine tumor (PitNET) was 77.8% (n=91) and 56.4% (n=66), respectively. Genetic testing revealed 61 distinct MEN1 variants in 101 patients, with 18 being novel. Four variants were reclassified according to the TENGEN guidelines. Patients with truncating variants (n=72) exhibited a higher prevalence of PitNETs compared to those with non-truncating variants (n=25) (59.7% vs. 36.0%, P=0.040).
Conclusion
The association between truncating variants and an increased prevalence of PitNETs in MEN1 underscores the importance of genetic characterization in guiding the clinical management of this disease. Our study sheds light on the clinical and genetic characteristics of MEN1 among the Korean population.
4.Sex-specific associations between dietary legume subtypes and type 2 diabetes in a prospective cohort study
Hye Won WOO ; Sangmo HONG ; Min-Ho SHIN ; Sang Baek KOH ; Hyeon Chang KIM ; Yu-Mi KIM ; Mi Kyung KIM
Epidemiology and Health 2024;46(1):e2024083-
OBJECTIVES:
Dietary soy, known for its high phytoestrogen content, has been suggested to exhibit a sex-specific association with type 2 diabetes. However, evidence regarding the sex-specific associations of different legume subtypes with type 2 diabetes remains scarce. We aimed to evaluate whether habitual consumption of soy and non-soy legumes (beans and peanuts) was prospectively and sex-specifically associated with the risk of type 2 diabetes incidence, taking into considering significant sex-specific genetic factors beyond legume consumption.
METHODS:
A total of 16,666 participants (96,945 person-years) were followed and 945 incident cases were observed. Cumulative intake of legume subtypes was calculated using a food frequency questionnaire administered at baseline and during the revisit surveys.
RESULTS:
Non-soy legumes are inversely associated with type 2 diabetes in both men and women. Dietary soy intake, however, demonstrated a unilaterally interacting sex-specific association with type 2 diabetes risk (pinteraction for sex=0.017). Specifically, there was a significant inverse association with type 2 diabetes risk in women (incidence rate ratio, 0.66; 95% confidence interval, 0.48 to 0.80; ptrend=0.007), but no such association was observed in men. This sex-specific association persisted and even appeared antagonistic in minor allele carriers of 2 novel single nucleotide polymorphisms, rs10196939 (LRRTM4) and rs11750158 (near GFPT2) (pinteraction for sex=0.001 and 0.011, respectively).
CONCLUSIONS
Habitual consumption of legumes shows protective impacts against type 2 diabetes, although these benefits vary by sex. Non-soy legumes provide health advantages for both men and women, whereas soy consumption seems to be beneficial exclusively for women.
5.Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis
Boram KIM ; Seung Hun LEE ; Chang Ho AHN ; Han Na JANG ; Sung Im CHO ; Jee-Soo LEE ; Yu-Mi LEE ; Su-Jin KIM ; Tae-Yon SUNG ; Kyu Eun LEE ; Woochang LEE ; Jung-Min KOH ; Moon-Woo SEONG ; Jung Hee KIM
Endocrinology and Metabolism 2024;39(6):956-964
Background:
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene. This study analyzed the clinical and genetic features of MEN1 in a Korean cohort, identifying prevalent manifestations and genetic variants, including novel variants.
Methods:
This multicenter retrospective study reviewed the medical records of 117 MEN1 patients treated at three tertiary centers in Korea between January 2012 and September 2022. Patient demographics, tumor manifestations, outcomes, and MEN1 genetic testing results were collected. Variants were classified using American College of Medical Genetics and Genomics (ACMG) and French Oncogenetics Network of Neuroendocrine Tumors propositions (TENGEN) guidelines.
Results:
A total of 117 patients were enrolled, including 55 familial cases, with a mean age at diagnosis of 37.4±15.3 years. Primary hyperparathyroidism was identified as the most common presentation (84.6%). The prevalence of gastroenteropancreatic neuroendocrine tumor and pituitary neuroendocrine tumor (PitNET) was 77.8% (n=91) and 56.4% (n=66), respectively. Genetic testing revealed 61 distinct MEN1 variants in 101 patients, with 18 being novel. Four variants were reclassified according to the TENGEN guidelines. Patients with truncating variants (n=72) exhibited a higher prevalence of PitNETs compared to those with non-truncating variants (n=25) (59.7% vs. 36.0%, P=0.040).
Conclusion
The association between truncating variants and an increased prevalence of PitNETs in MEN1 underscores the importance of genetic characterization in guiding the clinical management of this disease. Our study sheds light on the clinical and genetic characteristics of MEN1 among the Korean population.
6.Sex-specific associations between dietary legume subtypes and type 2 diabetes in a prospective cohort study
Hye Won WOO ; Sangmo HONG ; Min-Ho SHIN ; Sang Baek KOH ; Hyeon Chang KIM ; Yu-Mi KIM ; Mi Kyung KIM
Epidemiology and Health 2024;46(1):e2024083-
OBJECTIVES:
Dietary soy, known for its high phytoestrogen content, has been suggested to exhibit a sex-specific association with type 2 diabetes. However, evidence regarding the sex-specific associations of different legume subtypes with type 2 diabetes remains scarce. We aimed to evaluate whether habitual consumption of soy and non-soy legumes (beans and peanuts) was prospectively and sex-specifically associated with the risk of type 2 diabetes incidence, taking into considering significant sex-specific genetic factors beyond legume consumption.
METHODS:
A total of 16,666 participants (96,945 person-years) were followed and 945 incident cases were observed. Cumulative intake of legume subtypes was calculated using a food frequency questionnaire administered at baseline and during the revisit surveys.
RESULTS:
Non-soy legumes are inversely associated with type 2 diabetes in both men and women. Dietary soy intake, however, demonstrated a unilaterally interacting sex-specific association with type 2 diabetes risk (pinteraction for sex=0.017). Specifically, there was a significant inverse association with type 2 diabetes risk in women (incidence rate ratio, 0.66; 95% confidence interval, 0.48 to 0.80; ptrend=0.007), but no such association was observed in men. This sex-specific association persisted and even appeared antagonistic in minor allele carriers of 2 novel single nucleotide polymorphisms, rs10196939 (LRRTM4) and rs11750158 (near GFPT2) (pinteraction for sex=0.001 and 0.011, respectively).
CONCLUSIONS
Habitual consumption of legumes shows protective impacts against type 2 diabetes, although these benefits vary by sex. Non-soy legumes provide health advantages for both men and women, whereas soy consumption seems to be beneficial exclusively for women.
7.Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis
Boram KIM ; Seung Hun LEE ; Chang Ho AHN ; Han Na JANG ; Sung Im CHO ; Jee-Soo LEE ; Yu-Mi LEE ; Su-Jin KIM ; Tae-Yon SUNG ; Kyu Eun LEE ; Woochang LEE ; Jung-Min KOH ; Moon-Woo SEONG ; Jung Hee KIM
Endocrinology and Metabolism 2024;39(6):956-964
Background:
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene. This study analyzed the clinical and genetic features of MEN1 in a Korean cohort, identifying prevalent manifestations and genetic variants, including novel variants.
Methods:
This multicenter retrospective study reviewed the medical records of 117 MEN1 patients treated at three tertiary centers in Korea between January 2012 and September 2022. Patient demographics, tumor manifestations, outcomes, and MEN1 genetic testing results were collected. Variants were classified using American College of Medical Genetics and Genomics (ACMG) and French Oncogenetics Network of Neuroendocrine Tumors propositions (TENGEN) guidelines.
Results:
A total of 117 patients were enrolled, including 55 familial cases, with a mean age at diagnosis of 37.4±15.3 years. Primary hyperparathyroidism was identified as the most common presentation (84.6%). The prevalence of gastroenteropancreatic neuroendocrine tumor and pituitary neuroendocrine tumor (PitNET) was 77.8% (n=91) and 56.4% (n=66), respectively. Genetic testing revealed 61 distinct MEN1 variants in 101 patients, with 18 being novel. Four variants were reclassified according to the TENGEN guidelines. Patients with truncating variants (n=72) exhibited a higher prevalence of PitNETs compared to those with non-truncating variants (n=25) (59.7% vs. 36.0%, P=0.040).
Conclusion
The association between truncating variants and an increased prevalence of PitNETs in MEN1 underscores the importance of genetic characterization in guiding the clinical management of this disease. Our study sheds light on the clinical and genetic characteristics of MEN1 among the Korean population.
8.Sex-specific associations between dietary legume subtypes and type 2 diabetes in a prospective cohort study
Hye Won WOO ; Sangmo HONG ; Min-Ho SHIN ; Sang Baek KOH ; Hyeon Chang KIM ; Yu-Mi KIM ; Mi Kyung KIM
Epidemiology and Health 2024;46(1):e2024083-
OBJECTIVES:
Dietary soy, known for its high phytoestrogen content, has been suggested to exhibit a sex-specific association with type 2 diabetes. However, evidence regarding the sex-specific associations of different legume subtypes with type 2 diabetes remains scarce. We aimed to evaluate whether habitual consumption of soy and non-soy legumes (beans and peanuts) was prospectively and sex-specifically associated with the risk of type 2 diabetes incidence, taking into considering significant sex-specific genetic factors beyond legume consumption.
METHODS:
A total of 16,666 participants (96,945 person-years) were followed and 945 incident cases were observed. Cumulative intake of legume subtypes was calculated using a food frequency questionnaire administered at baseline and during the revisit surveys.
RESULTS:
Non-soy legumes are inversely associated with type 2 diabetes in both men and women. Dietary soy intake, however, demonstrated a unilaterally interacting sex-specific association with type 2 diabetes risk (pinteraction for sex=0.017). Specifically, there was a significant inverse association with type 2 diabetes risk in women (incidence rate ratio, 0.66; 95% confidence interval, 0.48 to 0.80; ptrend=0.007), but no such association was observed in men. This sex-specific association persisted and even appeared antagonistic in minor allele carriers of 2 novel single nucleotide polymorphisms, rs10196939 (LRRTM4) and rs11750158 (near GFPT2) (pinteraction for sex=0.001 and 0.011, respectively).
CONCLUSIONS
Habitual consumption of legumes shows protective impacts against type 2 diabetes, although these benefits vary by sex. Non-soy legumes provide health advantages for both men and women, whereas soy consumption seems to be beneficial exclusively for women.
9.The Modified S-GRAS Scoring System for Prognosis in Korean with Adrenocortical Carcinoma
Sun Kyung BAEK ; Seung Hun LEE ; Seung Shin PARK ; Chang Ho AHN ; Sung Hye KONG ; Won Woong KIM ; Yu-Mi LEE ; Su Jin KIM ; Dong Eun SONG ; Tae-Yon SUNG ; Kyu Eun LEE ; Jung Hee KIM ; Kyeong Cheon JUNG ; Jung-Min KOH
Endocrinology and Metabolism 2024;39(5):803-812
Background:
Adrenocortical carcinomas (ACCs) are rare tumors with aggressive but varied prognosis. Stage, Grade, Resection status, Age, Symptoms (S-GRAS) score, based on clinical and pathological factors, was found to best stratify the prognosis of European ACC patients. This study assessed the prognostic performance of modified S-GRAS (mS-GRAS) scores including modified grade (mG) by integrating mitotic counts into the Ki67 index (original grade), in Korean ACC patients.
Methods:
Patients who underwent surgery for ACC between January 1996 and December 2022 at three medical centers in Korea were retrospectively analyzed. mS-GRAS scores were calculated based on tumor stage, mG (Ki67 index or mitotic counts), resection status, age, and symptoms. Patients were divided into four groups (0–1, 2–3, 4–5, and 6–9 points) based on total mS-GRAS score. The associations of each variable and mS-GRAS score with recurrence and survival were evaluated using Cox regression analysis, Harrell’s concordance index (C-index), and the Kaplan–Meier method.
Results:
Data on mS-GRAS components were available for 114 of the 153 patients who underwent surgery for ACC. These 114 patients had recurrence and death rates of 61.4% and 48.2%, respectively. mS-GRAS score was a significantly better predictor of recurrence (C-index=0.829) and death (C-index=0.747) than each component (P<0.05), except for resection status. mS-GRAS scores correlated with shorter progression-free survival (P=8.34E-24) and overall survival (P=2.72E-13).
Conclusion
mS-GRAS scores showed better prognostic performance than tumor stage and grade in Asian patients who underwent surgery for ACC.
10.A prospective association between dietary mushroom intake and the risk of type 2 diabetes: the Korean Genome and Epidemiology Study–Cardiovascular Disease Association Study
Yu-Mi KIM ; Hye Won WOO ; Min-Ho SHIN ; Sang Baek KOH ; Hyeon Chang KIM ; Mi Kyung KIM
Epidemiology and Health 2024;46(1):e2024017-
OBJECTIVES:
Mushrooms, known for their nutritious and functional components, are considered healthy and medicinal. This study investigated the prospective association between dietary mushroom consumption and the incidence of type 2 diabetes among Korean adults aged ≥40 years.
METHODS:
In total, 16,666 participants who were not taking anti-diabetic medication or insulin and had normal fasting blood glucose (FBG; <126 mg/dL) were included. We used the cumulative average dietary consumption of mushrooms as an exposure metric, calculated from food frequency questionnaires at every follow-up, along with covariates collected during a baseline survey. To estimate incidence rate ratios (IRRs) for type 2 diabetes, a modified Poisson regression model with a robust error estimator was applied.
RESULTS:
In multivariable models, dietary mushroom consumption was inversely associated with type 2 diabetes incidence in both genders (men: IRR, 0.65; 95% confidence interval [CI], 0.47 to 0.90; plinearity=0.043 in the highest quartile (Q4) vs. the lowest quartile (Q1); women: IRR, 0.70; 95% CI, 0.54 to 0.93; plinearity=0.114 in Q4 vs. Q1). The inverse association remained after adjustment for dietary factors instead of dietary quality index, the baseline FBG, and the exclusion of incidence within the first year. Additionally, no significant interaction was found regarding the risk of type 2 diabetes between dietary mushroom consumption and participants’ gender or other factors.
CONCLUSIONS
Dietary mushroom consumption was inversely linked with the risk of type 2 diabetes incidence in both genders, indicating the beneficial role of mushrooms in preventing the disease.

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