Publications by authors named "Ja-Eun Choi"

Insulin resistance is a major indicator of cardiovascular diseases, including hypertension. The Metabolic Score for Insulin Resistance (METS-IR) offers a simplified and cost-effective way to evaluate insulin resistance. This study aimed to identify genetic variants associated with the prevalence of hypertension stratified by METS-IR score levels.

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There is limited evidence on gene-nutrient interaction associated with hypertension (HTN). We examined interactions between genotypes and various nutrients that influenced high blood pressure (BP). Data were obtained from a total of 50,808 participants from the Korean Genome and Epidemiology Study (KoGES).

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  • This study investigates the genetic factors behind androgenetic alopecia (AGA), or patterned hair loss, in males and females, revealing different underlying mechanisms.
  • It involved approximately 1,000 participants and identified three new genetic loci linked to AGA, with distinct associations for males and females.
  • The findings suggest that certain genes, especially those influenced by sex hormones like estrogen, play a significant role in female-patterned hair loss, enhancing our understanding of the condition's unique features in each sex.
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Background: This study aimed to explore how genetic variations in individuals impact neutralization activity post-mRNA vaccination, recognizing the critical role vaccination plays in curbing COVID-19 spread and the necessity of ensuring vaccine efficacy amidst genetic diversity.

Methods: In a 4-week clinical pilot study, 534 healthy subjects received their first COVID vaccine dose, followed by the second dose. Antibody levels were evaluated thrice.

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Backgrounds: Metabolic dysfunction-associated steatotic liver disease (MASLD) has gained attention owing to its severe complications. This study aimed to explore the interaction between Mediterranean-diet (MD) adherence, genetic factors, and MASLD risk in a Korean population.

Methods: In total, 33,133 individuals aged 40 years and older from the Korean Genome and Epidemiology Study (KoGES) were analyzed.

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Background: Sleep disorders and insomnia are prevalent worldwide, with negative health outcomes. The Pittsburgh Sleep Quality Index (PSQI) is a widely used self-report assessment tool for evaluating sleep quality, comprising seven subdomains. The Korean version of the PSQI (PSQI-K) has been tested for reliability and validity in small sample sizes but lacks large-scale validation using objective measures.

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  • - Recent research shows a link between non-alcoholic fatty liver disease (NAFLD) and a higher risk of ischemic heart disease, prompting a study into genetic variants related to heart attacks in NAFLD patients.
  • - The study included over 57,000 participants, identifying specific genetic markers (SNPs) associated with myocardial infarction (MI) in individuals with NAFLD, including nine significant SNPs that were statistically relevant.
  • - One particular SNP, rs134146480, located in the SORCS2 gene related to insulin secretion, showed the strongest association with MI risk, helping to identify potential genetic indicators for assessing MI risk in NAFLD patients.
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Despite recent advancements in identifying engram cells, our understanding of their regulatory and functional mechanisms remains in its infancy. To provide mechanistic insight into engram cell functioning, we introduced a novel local microcircuit labeling technique that enables the labeling of intraregional synaptic connections. Utilizing this approach, we discovered a unique population of somatostatin (SOM) interneurons in the mouse basolateral amygdala (BLA).

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The brain has the powerful ability to transform experiences into anatomic maps and continuously integrate massive amounts of information to form new memories. The manner in which the brain performs these processes has been investigated extensively for decades. Emerging reports suggest that dendritic spines are the structural basis of information storage.

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  • Handedness, primarily right-handedness, is predominant globally, with only about 7%-10% of Koreans being left-handed, influenced by cultural oppression of left-handedness in East Asia.
  • The study utilized genome-wide association studies (GWAS) to analyze genetic associations between right-handedness, left-handedness, and ambidexterity in a Korean cohort of 8,806 participants.
  • Findings revealed significant genetic loci linked to left-handedness and ambidexterity, highlighting associations with brain development and neurological processes, marking it as the first East-Asian study on this topic.
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  • Autism spectrum disorder (ASD) is characterized by social impairments and shows different symptoms based on gender, particularly concerning feelings of loneliness.
  • Research suggests that social isolation enhances the desire for social interaction differently in male and female mice; male mice typically show increased sociability, while this effect is not observed in females.
  • In a study using Shank2-deficient mice (a model for ASD), both male and female mice increased social interactions after isolation, indicating that these models respond to social isolation and exhibit a motivation for social engagement regardless of gender.
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Genetic and nutritional factors contribute to the development of non-alcoholic fatty liver disease (NAFLD); however, gene-diet interactions in NAFLD development are poorly understood. In this case-control study, a large dataset from the Korean Genome and Epidemiology Study cohort ( = 72,299) comprising genomic data, medical records, social history, and dietary data was used. We investigated the interactions between the rs738409 genotype and nutritional factors and their possible effect on the risk of NAFLD development in 2950 patients with NAFLD and 12,907 controls.

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Although many genome-wide association studies (GWASs) have evaluated the association with metabolic disorders, the current study is the first attempt to analyze the genetic risk factors for various metabolic disorders according to sex and age groups of the life course in Korean adults. A total population of 50,808 people were included in this GWAS. The genetic traits for eight metabolic phenotypes were investigated in peri-, and postmenopausal women compared to a younger group or men of corresponding age groups.

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Social animals expend considerable energy to maintain social bonds throughout their life. Male and female mice show sexually dimorphic behaviors, yet the underlying neural mechanisms of sociability and their dysregulation during social disconnection remain unknown. Dopaminergic neurons in dorsal raphe nucleus (DRN) is known to contribute to a loneliness-like state and modulate sociability.

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Childhood to adolescence is an accelerated growth period, and genetic features can influence differences of individual growth patterns. In this study, we examined the genetic basis of early age facial growth (EAFG) patterns. Facial shape phenotypes were defined using facial landmark distances, identifying five growth patterns: continued-decrease, decrease-to-increase, constant, increase-to-decrease, and continued-increase.

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A comprehensive understanding of gene-diet interactions is necessary to establish proper dietary guidelines to prevent and manage cardio-cerebrovascular disease (CCD). We investigated the role of genetic variants associated with dyslipidaemia (DL) and their interactions with macro-nutrients for cardiovascular disease using a large-scale genome-wide association study of Korean adults. A total of 58,701 participants from a Korean genome and epidemiology study were included.

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Background And Aims: Weight management is recommended in overweight or obese breast cancer patients, as they have an increased risk of cancer recurrence and poor prognosis. Furthermore, identifying the relationships between genetic factors and nutrition could help suggest possible individualized nutritional solutions in weight management. The objective of this pilot randomized controlled trial was to investigate the influence of two obesity-associated single nucleotide polymorphisms and the Mediterranean diet intervention on weight loss and modification of nutrient intake and metabolic parameters in overweight or obese, postmenopausal, breast cancer patients receiving adjuvant hormone therapy.

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Background: Many candidate genes for androgenetic alopecia (AGA) have been identified in studies of the Caucasians and some Asian populations.

Aims: This study aimed to confirm the known susceptibility genes reported in previous studies and find additional candidate genes for high-risk individuals for AGA in Korean population.

Patients/methods: We recapitulated the previously reported SNPs and identified the novel Korean AGA risk genetic variants using a Korean hospital-based AGA case and control samples.

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We compared the improvement in components of metabolic syndrome (MS) before and after lifestyle modification, as determined by daily step counts (on a wrist-worn Fitbit®) in participants with and without MS recruited from volunteers attending medical health checkup programs. A linear mixed model was used to analyze the change in MS components between participants with and without MS by group × time interaction. Multiple logistic regression analysis after adjustment for confounders was used to obtain odds ratios (ORs) and 95% confidence intervals (CIs) for improvements in MS components per 1000-steps/day increments.

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  • - The study aimed to explore how genetic variations interact with dietary factors to influence general and abdominal obesity among Korean adults, highlighting the importance of understanding gene-diet interactions for better dietary guidelines.
  • - Researchers analyzed data from 50,808 participants, using dietary intake assessments and definitions for obesity based on BMI and waist circumference, while adjusting for various lifestyle factors.
  • - Results indicated that certain genetic variants significantly affected obesity risk based on nutrient intake, with specific alleles linked to higher or lower risks of abdominal obesity depending on dietary fat and vitamin consumption.
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Ketamine, a non-competitive antagonist of the N-methyl-D-aspartate receptor (NMDAR), generates a rapidly-acting antidepressant effect. It exerts psychomimetic effects, yet demands a further investigation of its mechanism. Previous research showed that ketamine did no longer promote hyperlocomotion in GluN2D knockout (KO) mice, which is a subunit of NMDAR.

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  • The study investigates how genetic factors contribute to individual risk of developing alcohol-associated liver disease (ALD) using data from the Korean Genome and Epidemiology Study, involving nearly 22,000 participants aged 40-79.
  • Three specific genetic loci (GGT1, ZNF827, and HNF1A) were identified as significantly linked to ALD risk, with one minor allele (GGT1 rs2006227) showing strong associations across all drinking categories.
  • The protective effects of certain SNPs, particularly HNF1A rs1183910, vary depending on alcohol consumption levels, suggesting that genetic expression related to ALD may be influenced by the amount of alcohol a person consumes.
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Successful adaptation to the environment requires an accurate response to external threats by recalling specific memories. Memory formation and recall require engram cell activity and synaptic strengthening among activated neuronal ensembles. However, elucidation of the underlying neural substrates of associative fear memory has remained limited without a direct interrogation of extinction-induced changes of specific synapses that encode a specific auditory fear memory.

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  • The study highlights the unique challenges in treating autism spectrum disorders (ASD) due to their diverse causes and emphasizes the need for individualized research approaches.
  • Using human-induced pluripotent stem cell (iPSC) technology, researchers created neuron-like cells from an ASD patient with a mutation in the DSCAM gene, finding significant reductions in DSCAM levels and associated synaptic function genes.
  • The findings indicate that the DSCAM mutation may lead to ASD symptoms by impairing NMDA receptor function, confirmed by observations in both iN cells and a mouse model with similar genetic alterations.
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Background: Hypertension (HTN), diabetes mellitus (DM), and dyslipidemia (DL) are well-known risk factors of cardiovascular disease (CVD), but not all patients develop CVDs. Studies have been limited investigating genetic risk of CVDs specific to individuals with metabolic diseases. This study aimed to identify disease-specific and/or common genetic loci associated with CVD susceptibility in chronic metabolic disease patients.

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