Relationship between HECTD4 gene variants, obesity, and coffee consumption.

Background: In genome-wide association studies, the HECT domain E3 ubiquitin-protein ligase 4 (HECTD4) gene was suggested to be associated with obesity-related traits and coffee consumption. However, the association of genetic variants between coffee consumption and obesity has not been tested in Koreans. Therefore, we investigated whether HECTD4 gene variants act as effect modifiers on the relationship between obesity and coffee.

Forensic height estimation using polygenic score in Korean population.

Height is known to be a classically heritable trait controlled by complex polygenic factors. Numerous height-associated genetic variants across the genome have been identified so far. It is also a representative of externally visible characteristics (EVC) for predicting appearance in forensic science.

Coffee consumption affects kidney function based on GCKR polymorphism in a Korean population.

Kidney function can be preserved through pharmacological interventions and nonpharmacological strategies, such as lifestyle and dietary adjustments. Among these, coffee has been linked to protective effects on kidney function. However, few studies have investigated the effect of coffee consumption on kidney function according to specific genes.

A genome-wide association scan reveals novel loci for facial traits of Koreans.

DNA-based prediction of externally visible characteristics (EVC) with SNPs is one of the research areas of interest in the forensic field. Based on a previous study performing GWAS on facial traits in a Korean population, herein, we present results stemming from GWA analysis with KoreanChip and novel genetic loci satisfying genome-wide significant level. We discovered a total of 20 signals and 12 loci were found to have novel associations with facial traits, including six loci located in intergenic regions and six loci located at UBE2O, HECTD2, CCDC108, TPK1, FCN2, and FRMPD1.

Association of IGF1R polymorphisms with kidney function-related traits.

Background: Unimpaired kidney function is important for maintaining a healthy state of homeostasis in the body. A genome-wide association study (GWAS) conducted on kidney function-associated traits and novel loci of Japanese subjects found that insulin-like-growth factor 1 receptor (IGF1R) gene variants associated with replication were responsible for all three kinds of kidney functions and satisfied the Bonferroni significance level.

Objective: This study aimed to investigate whether a comparable relationship exists in the Korean population.

The genetic polymorphisms Associated with type 2 diabetes Mellitus.

Growing number of research studies have shown that an anti-ageing gene Klotho () is closely associated with Type 2 Diabetes Mellitus (T2DM). In this study, the association is genetically analyzed with single nucleotide polymorphism (SNP) of found in T2DM case of an Asian cohort. SNP information was obtained from a big database of the Korean Association Resource (KARE) from which 20 SNPs were available.

Identification of Genetic Markers Linked to The Activity of Indoleamine 2,3-Dioxygenase and Kidney Function.

Indoleamine 2,3-dioxygenase (IDO) is a tryptophan-degrading enzyme belonging to the kynurenine pathway. IDO activity has been suggested as a potential biomarker for early diagnosis of chronic kidney disease (CKD). The aim of this study was to perform coincident association analysis to gain genetic insights into the correlation between IDO activity and CKD.

Effects of Loganin on Bone Formation and Resorption In Vitro and In Vivo.

Osteoporosis is a disease caused by impaired bone remodeling that is especially prevalent in elderly and postmenopausal women. Although numerous chemical agents have been developed to prevent osteoporosis, arguments remain regarding their side effects. Here, we demonstrated the effects of loganin, a single bioactive compound isolated from , on osteoblast and osteoclast differentiation in vitro and on ovariectomy (OVX)-induced osteoporosis in mice in vivo.

FGFRL1 and FGF genes are associated with height, hypertension, and osteoporosis.

Hypertension and osteoporosis are two major disorders, which interact with each other. Specific genetic signals involving the fibroblast growth factor receptor-like 1 (FGFRL1) gene are related to high blood pressure and bone growth in giraffes. FGFRL1 is associated with cardiovascular system and bone formation.

Genetic polymorphism of HLA-DRA and alcohol consumption affect hepatitis development in the Korean population.

Background: Hepatitis is an inflammation of the liver that has several potential causes; however, the genetic association has recently begun to be studied.

Objectives: Human leukocyte antigen (HLA) is an essential component of the immune response, and in this study, we conducted a correlation analysis to determine whether genetic polymorphisms of HLA and drinking habits affect hepatitis development.

Methods: Genetic polymorphisms of HLA were investigated using Korean genomic and epidemiological data.

Metabolite Genome-Wide Association Study for Indoleamine 2,3-Dioxygenase Activity Associated with Chronic Kidney Disease.

Chronic kidney disease (CKD) causes progressive damage to kidney function with increased inflammation. This process contributes to complex amino acid changes. Indoleamine 2,3-dioxygenase (IDO) has been proposed as a new biomarker of CKD in previous studies.

Interaction between ALDH2 rs671 and life habits affects the risk of hypertension in Koreans: A STROBE observational study.

Aldehyde dehydrogenase-2 (ALDH2) is associated with the risk of hypertension, and the effects of lifestyle factors on blood pressure vary according to genotype. Among the Han Chinese, the risk of hypertension is lower in the group with the rs671 A allele than in the group with the G allele, and there is a significant association between the frequency of fried food consumption and hypertension. However, the A allele significantly increases the risk of hypertension with increased fried food intake.

Association between Gene Variants and Chronic Kidney Disease in a Korean Population.

Chronic kidney disease (CKD), a damaged condition of the kidneys, is a global public health problem that can be caused by diabetes, hypertension, and other disorders. Recently, the gene was identified in CKD by integrating CKD-related variants and kidney expression quantitative trait loci (eQTL) data. This study evaluated the effects of gene variants on CKD and kidney function-related traits using a Korean cohort.

A Genome-Wide Association Study for Hypertensive Kidney Disease in Korean Men.

Hypertension is one of the major risk factors for chronic kidney disease (CKD), and the coexistence of hypertension and CKD increases morbidity and mortality. Although many genetic factors have been identified separately for hypertension and kidney disease, studies specifically focused on hypertensive kidney disease (HKD) have been rare. Therefore, this study aimed to identify loci or genes associated with HKD.

A Genome-Wide Association Study of Novel Genetic Variants Associated With Anthropometric Traits in Koreans.

Most previous genome-wide association studies (GWAS) have identified genetic variants associated with anthropometric traits. However, most of the evidence were reported in European populations. Anthropometric traits such as height and body fat distribution are significantly affected by gender and genetic factors.

Association of MACROD2 gene variants with obesity and physical activity in a Korean population.

Background: Obesity is a serious and common complex disease caused by the influence of genetic and environmental factors. Therefore, we aimed to evaluate the effect of genetic variants on obesity and the possibility of preventing obesity through physical activity using association analysis.

Methods: This study analyzed the association between obesity and variants in the MACROD2 gene in the Korean association resource (KARE) cohort using logistic regression analysis.

Osteoprotective Effects of Loganic Acid on Osteoblastic and Osteoclastic Cells and Osteoporosis-Induced Mice.

Osteoporosis is a common disease caused by an imbalance of processes between bone resorption by osteoclasts and bone formation by osteoblasts in postmenopausal women. The roots of L. (GL) are reported to have beneficial effects on various human diseases related to liver functions and gastrointestinal motility, as well as on arthritis.

Scopolin Attenuates Osteoporotic Bone Loss in Ovariectomized Mice.

Bone remodeling is a renewal process regulated by bone synthesis (osteoblasts) and bone destruction (osteoclasts). A previous study demonstrated that cortex (LRC) extract inhibited ovariectomized (OVX)-induced bone loss in mice. This study investigated the anti-osteoporotic effects of bioactive constituent(s) from the LRC extract.

Anti-Osteoporotic Effects of the Herbal Mixture of and In Vitro and In Vivo.

Osteoporosis is a porous bone disease caused by bone density loss, which increases the risk of fractures. (CO) and (AJ) have been used as traditional herbal medicine for various disorders in East Asia. Although the anti-osteoporotic effects of single extract of CO and AJ have already been reported, the synergistic effect of a combined mixture has not been studied.

The interaction between FTO rs9939609 and physical activity is associated with a 2-fold reduction in the risk of obesity in Korean population.

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 FTO rs9939609 on obesity in Korean population.

Methods: The study analyzed the correlation between physical activity and obesity in 8840 individuals representing the Korea Association Resource (KARE).

Tuberculosis risk is associated with genetic polymorphisms in the LRP2, CUBN, and VDR genes.

Background: Vitamin D (Vit. D) is used extensively during tuberculosis treatment. Low levels of serum Vit.