A5053690881- Genetic Associations and Epidemiology
- Bone Metabolism and Diseases
- Diet, Metabolism, and Disease
- Bone health and osteoporosis research
- Nutrition, Genetics, and Disease
- Hormonal Regulation and Hypertension
- Liver Disease Diagnosis and Treatment
- Mycobacterium research and diagnosis
- Birth, Development, and Health
- RNA modifications and cancer
- Tuberculosis Research and Epidemiology
- Metabolism, Diabetes, and Cancer
- Fibroblast Growth Factor Research
- Genomics and Rare Diseases
- Folate and B Vitamins Research
- Adipose Tissue and Metabolism
- Pharmacological Effects of Medicinal Plants
- Natural product bioactivities and synthesis
- Sarcoma Diagnosis and Treatment
- Blood Pressure and Hypertension Studies
- Cell Adhesion Molecules Research
- Metabolism and Genetic Disorders
- Neurofibromatosis and Schwannoma Cases
- Hearing, Cochlea, Tinnitus, Genetics
- Connective tissue disorders research
Hoseo University
2015-2024
Institute for Basic Science
2015-2023
Ajou University
2011-2015
Kyung Hee University
2008-2012
Korea National Institute of Health
2003-2006
Catholic University of Korea
2006
National Institute of Health
2004
Sensorineural hearing loss associated with enlargement of the vestibular aqueduct (EVA) can be mutations SLC26A4 gene. In western populations, less than one-half affected individuals EVA have two mutant alleles, and is frequently caused by unknown genetic or environmental factors alone in combination a single mutation as part complex trait. this study, we ascertained 26 Korean probands performed nucleotide sequence analysis to detect mutations. All subjects had bilateral EVA, 20 were...
The interrelation between TSH, thyroid hormones and metabolic parameters is complex has not been confirmed. This study aimed to determine the association of TSH in euthyroid subjects relationship function risk factors. Furthermore, this examined whether predictive power for syndrome.This a cross-sectional that included medical health check-up programme at single institution.The 132 346 participants (66 991 men 65 355 women) aged over 18 years who had free T4 (FT4) T3 (FT3) levels within...
The melanocortin-4 receptor (MC4R) regulates metabolism by modulating eating behavior and MC4R variants (rs17782313 rs571312) are associated with obesity in Asians Caucasians. However, the impact of their interactions nutritional lifestyle factors on poorly described. Therefore, we investigated interaction dietary patterns risk Korean middle-aged adults. Data collected included, genetic variations, anthropometric biochemical measurements, habits, food intake. were obtained from 8830 adults...
Mutations of <i>MKRN3</i>, the gene encoding makorin RING-finger protein 3, lead to central precocious puberty (CPP). The aim this study was investigate mutations <i>MKRN3</i> in Korean girls with CPP. Two hundred-sixty idiopathic CPP were included. Auxological and endocrine parameters measured, entire directly sequenced. analysis revealed one novel nonsense mutation (p.Gln281 *) 6 missense variants (p.Ile100Phe, p.Gly196Val, p.Ile204Thr, p.Gln226Pro, p.Lys233Asn, p.Ser396Arg). a...
Osteoporosis is a common disease caused by an imbalance of processes between bone resorption osteoclasts and formation osteoblasts in postmenopausal women. The roots Gentiana lutea L. (GL) are reported to have beneficial effects on various human diseases related liver functions gastrointestinal motility, as well arthritis. Here, we fractionated isolated bioactive constituent(s) responsible for anti-osteoporotic GL root extract. A single phytochemical compound, loganic acid, was identified...
<i>Background/Aims:</i> In humans, the kidneys regulate blood pressure by balancing sodium concentrations. Fine-tuning of renal reabsorption and excretion depends on epithelial channel protein (ENaC: complex SCNN1A, SCNN1B, SCNN1G). The surface expression ENaC components is directed ubiquitination NEDD4L, an ENaC-specific E3 ubiquitin ligase, regulated deubiquitination USP2. activity NEDD4L in turn phosphorylation SGK1 also through interaction with NDFIP2....
Hypertension is affected by both genetic and dietary factors. This study aimed to examine the interaction between sodium/potassium intake, sodium–potassium ratios, FGF5 rs16998073 link these with increased risk for developing hypertension. Using data from Health Examinee (HEXA) Study of Korean Genome Epidemiologic (KoGES), we were able identify a total 17,736 middle-aged adults who could be included in our genome-wide association (GWAS) confirm any associations hypertension variant. GWAS...
Mutations in the type I collagen genes COL1A1 and COL1A2 are responsible for dominantly inherited connective tissue disorder osteogenesis imperfecta (OI). The severity of OI is diverse, ranging from perinatal lethality to a very mild phenotype that characterized by normal stature absence deformities. Although there have been several studies on mutational spectra and/or Western populations, few cases reported Asia. In this study, we investigated 67 unrelated Korean probands with used...
Abstract Background The prevalence of type 2 diabetes has reached epidemic proportions worldwide, and the incidence life-threatening complications through continued exposure tissues to high glucose levels is increasing. Advances in genotyping technology have increased scale accuracy genotype data so that an association genetic study expanded enormously. Consequently, it difficult search published efficiently, several databases on results been constructed, but these their limitations...
Osteoporosis is an abnormal bone remodeling condition characterized by decreased density, which leads to high risks of fracture. Previous study has demonstrated that Lycii Radicis Cortex (LRC) extract inhibits loss in ovariectomized (OVX) mice enhancing osteoblast differentiation. A bioactive compound, kukoamine B (KB), was identified from fractionation LRC as a candidate component responsible for anti-osteoporotic effect. This investigated the effects KB using vitro and vivo osteoporosis...
<b><i>Background:</i></b> Different transient receptor potential vanilloid 1 <i>(TRPV1)</i> variants may be differently activated by noxious stimuli. <b><i>Aim:</i></b> We investigated how <i>TRPV1</i> modulated the prevalence of type 2 diabetes and specific gene-nutrient interactions. <b><i>Methods:</i></b> Among 8,842 adults aged 40-69 years in Korean Genome Epidemiology Study, associations...
Abstract Objective FTO (fat mass and obesity‐associated) gene is a well‐known genetic risk factor for obesity. We investigated whether physical activity modulates the effect of rs9939609 on obesity in Korean population. Methods The study analyzed correlation between 8840 individuals representing Korea Association Resource (KARE). association obesity‐related traits single‐nucleotide polymorphisms (SNPs) was assessed using linear regression models. Physical defined as 3 hours or more daily...
Abstract Osteoporosis is a condition characterized by decreased bone mineral density (BMD) and reduced strength, leading to an increased risk of fractures. Here, identify novel variants for susceptibility osteoporosis-related traits, exome-wide association study performed with 6,485 exonic single nucleotide polymorphisms (SNPs) in 2,666 women two Korean cohorts. The rs2781 SNP UBAP2 gene suggestively associated osteoporosis BMD p -values 6.1 × 10 −7 (odds ratio = 1.72) 1.1 the case-control...
BackgroundEssential hypertension is associated with mitochondrial dysfunction. Because dynamics; morphological changes are closely linked various functions, we aimed to examine whether the genetic variation of mitochondria-shaping genes influenced susceptibility blood pressure (BP) and hypertension.
AIMS. Blood pressure control is influenced by various genetic and environmental factors, susceptibility important in the development of essential hypertension. Because renin-angiotensin-aldosterone system (RAAS) has a key role vasoconstriction, vasodilation, sodium electrolyte balance, it central blood so an appropriate target hypertension treatments. The present study assessed association RAAS-related genes with Korean population. Single nucleotide polymorphisms (SNPs, n = 114) nine (AGT,...
Osteoporosis is a common skeletal disease caused by decreased bone mass; it enhances the risk of fracture. This study aimed to discover novel herbal extract(s) for treatment osteoporosis. We screened 64 ethanol extracts edible plants native Korea their ability increase cellular proliferation and differentiation two osteoblastic cell lines: C3H10T1/2 MC3T3-E1. selected Lycii Radicis Cortex (LRC), Lycium Chinese root bark as primary candidate. Treatment with LRC extract showed enhanced...
Bone remodeling is a renewal process regulated by bone synthesis (osteoblasts) and destruction (osteoclasts). A previous study demonstrated that Lycii radicis cortex (LRC) extract inhibited ovariectomized (OVX)-induced loss in mice. This investigated the anti-osteoporotic effects of bioactive constituent(s) from LRC extract. The effective compound(s) were screened, single compound, scopolin, which acts as phytoalexin, was chosen candidate component. Scopolin treatment enhanced alkaline...