• Genomics & Informatics
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• v.9 no.2
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• pp.52-58
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• 2011

Osteoporotic fracture (OF), along with bone mineral density (BMD), is an important diagnostic parameter and a clinical predictive risk factor in the assessment of osteoporosis in the elderly population. However, a genome-wide association study (GWAS) on OF has not yet been clarified sufficiently. To identify OF-associated genetic variants and candidate genes, we conducted a GWAS in a population-based cohort (Korean Association Resource [KARE], n=1,427 [case: 288 and control: 1139]) and performed a de novo replication study in hospital-based individuals (Asan and Catholic Medical Center [ACMC], n=1,082 [case: 272 and control: 810]). In a combined meta-analysis, a newly identified genetic locus in an intergenic region at 10p11.2 (near genes FZD8 and ANKRD30A ) showed the most significant association (odd ratio [OR] = 2.00, 95% confidence interval [CI] = 1.47~2.74, p=$1.27{\times}10^{-6}$) in the same direction. We provide the first evidence for a common genetic variant influencing OF and genetic information for further investigation in bone metabolism.

• Tuberculosis and Respiratory Diseases
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• v.48 no.1
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• pp.45-53
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• 2000

Background: The literature on variations of rib is limited. Very little has been written in the radiological journal of this country on the subject. It seemed of interest to investigate the nature and incidence of congenital variations in a series of routine chest roentgenograms. The topic of rib variations has not been covered extensively in the radiological journals in Korea. This has presented an opportunity to investigate the nature, type, shape and incidences of congenital rib variations in normal Korean adults from a series of routine roentgenograms. Methods: Chest radiographs of 5,000 adults, who visited our hospital for a routine check-up or for employment physical examinations from January 1996 to September 1998, were consecutively reviewed. The sex distribution consisted of 2,827 male males and 2,173 female females(ratio of 1.3:1) with the age range aged between 19 and 65 years(mean age: 34.6 years) were included. The chest PAs were analyzed for the presence, type, location, and shape of the rib variations. From this data the incidence of each type of variations was calculated. Results: Seventy-six of the 5,000 adults(1.52%), 63 male(2.23%) and 13 female(0.6%), showed 88 cases of rib variation(Table 1). The most common variation was the bifid rib(n=35), followed by hypoplasia of the rib(n=22), flaring of the rib(n=18), bridging of the ribs(n=7), cervical ribs(n=3), and fusion of between ribs(n=3)(Table 2). The bifid rib(Table 1) was found most frequent in the right fourth rib(12/35, 34.3%), followed by the left fifth rib(6/35, 17.1%) and right third rib(6/35, 17.1%). Hypoplasia of the rib was common in first rib(20/22, 90.9%). Flaring of the rib was common at fourth rib(8/18, 44.4%, right and left combined), and bridging between ribs was common between first and second rib(3/7, 42.9%). Conclusion : The percentage of incidence of rib variations in adults was 1.52%. Bifid rib was the most common variation, followed by hypoplasia, flaring, bridging, cervical rib, and fusion of ribs, in decreasing order.

• Journal of Genetic Medicine
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• v.8 no.2
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• pp.113-118
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• 2011

Purpose: Placental corticotropin-releasing hormone receptor type 1 (CRHR1) expression is reduced in pregnancies with abnormal placental function such as preeclampsia (PE), and the levels and/or function of CRHR1 are genetically influenced. The aim of this study was to investigate the association between the c.33+8199C>T polymorphism in the CRHR1 gene and PE in a Korean population. Materials and Methods: Using a case-control design, the association between the CRHR1 polymorphism and the risk of PE was investigated in 203 individuals with PE and 211 normotensive controls. Genotypes were determined using a SNapShot kit and an ABI Prism 3100 Genetic analyzer. Results: Genotypes and allele frequencies for the CRHR1 polymorphism did not differ between PE and normotensive pregnancies. The variant T allele was more frequent than the ancestral C allele in both of the groups and was more frequent in the controls than in the cases. In risk analysis for PE, there was not an increased risk of preeclampsia in subjects who were concomitant homozygous rare allele genotypes (CC) (OR, 0.3; P=0.15) or heterozygous rare allele genotypes (TC) (OR, 0.8; P=0.29). There were no differences in the complications of PE such as severity or preterm delivery in patients with the CRHR1 polymorphism. Conclusion: Our findings indicate that the CRHR1 polymorphism was not associated with PE in the present Korean study group.

• The Korean Journal of Mycology
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• v.40 no.4
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• pp.229-234
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• 2012

A key molecule in the pathogenesis of Alzheimer's disease (AD) is the ${\beta}$-amyloid peptide ($A{\beta}$) generated by ${\beta}$-secretase activity, an aspartic protease. This study was designed to evaluate inhibitory effect of the high-molecular weight water-soluble polysaccharides (Et-P) isolated and purified from Phellinus linteus fruiting body on ${\beta}$-secretase activity. The Et-P was purified from the hot water extract of Phellinus linteus fruiting body mainly by 75% ethanol precipitation and DEAE-Cellulose column chromatography. From the DEAE-Cellulose chromato-gram and molecular weight analysis, the Et-P was shown to be a mixture of three polysaccharides with molecular mass of 1,629, 1,294, and 21 kDa, respectively. The monosaccharide composition of Et-P was determined to be glu-cose, galactose, and mannose as major sugars, glucose being the most prominent one (48% in mole percentage). The elemental analysis and FT-IR analysis suggested that Et-P is typical polysaccharides having at least partially ${\beta}$-linkages and possible existing as complex with phenolic compounds. The laminarinase digestion and HPAEC-PAD analysis suggested that Et-P is a variant of beta-(1,3)-glucans. The Et-P showed DPPH radical scavenging activity and, especially, a significant inhibitory activity on ${\beta}$-secreatase activity (48% inhibitin at 100 ${\mu}g/mL$), suggesting that they may inhibit the formation of $A{\beta}$ which is the major causative of Alzheimer's disease. The results of this study suggest that the water soluble polysaccharides of Phellinus linteus fruiting body can be a potent material for the development of preventive or therapeutic agents for AD.

• Korean Journal of Remote Sensing
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• v.35 no.5_1
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• pp.665-679
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• 2019

Mesoscale soil moisture measurement from the promising Cosmic-Ray Neutron Probe (CRNP) is expected to bridge the gap between large scale microwave remote sensing and point-based in-situ soil moisture observations. Traditional calibration based on $N_0$ method is used to convert neutron intensity measured at the CRNP to field scale soil moisture. However, the static calibration parameter $N_0$ used in traditional technique is insufficient to quantify long term soil moisture variation and easily influenced by different time-variant factors, contributing to the high uncertainties in CRNP soil moisture product. Consequently, in this study, we proposed a modified traditional calibration method, so-called Dynamic-$N_0$ method, which take into account the temporal variation of $N_0$ to improve the CRNP based soil moisture estimation. In particular, a nonlinear regression method has been developed to directly estimate the time series of $N_0$ data from the corrected neutron intensity. The $N_0$ time series were then reapplied to generate the soil moisture. We evaluated the performance of Dynamic-$N_0$ method for soil moisture estimation compared with the traditional one by using a weighted in-situ soil moisture product. The results indicated that Dynamic-$N_0$ method outperformed the traditional calibration technique, where correlation coefficient increased from 0.70 to 0.72 and RMSE and bias reduced from 0.036 to 0.026 and -0.006 to $-0.001m^3m^{-3}$. Superior performance of the Dynamic-$N_0$ calibration method revealed that the temporal variability of $N_0$ was caused by hydrogen pools surrounding the CRNP. Although several uncertainty sources contributed to the variation of $N_0$ were not fully identified, this proposed calibration method gave a new insight to improve field scale soil moisture estimation from the CRNP.

• Journal of Life Science
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• v.31 no.10
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• pp.913-921
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• 2021

Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.

• Tuberculosis and Respiratory Diseases
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• v.84 no.4
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• pp.263-273
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• 2021

Cough is the most common respiratory symptom that can have various causes. It is a major clinical problem that can reduce a patient's quality of life. Thus, clinical guidelines for the treatment of cough were established in 2014 by the cough guideline committee under the Korean Academy of Tuberculosis and Respiratory Diseases. From October 2018 to July 2020, cough guidelines were revised by members of the committee based on the first guidelines. The purpose of these guidelines is to help clinicians efficiently diagnose and treat patients with cough. This article highlights the recommendations and summary of the revised Korean cough guidelines. It includes a revised algorithm for the evaluation of acute, subacute, and chronic cough. For a chronic cough, upper airway cough syndrome (UACS), cough variant asthma (CVA), and gastroesophageal reflux disease (GERD) should be considered in differential diagnoses. If UACS is suspected, first-generation antihistamines and nasal decongestants can be used empirically. In cases with CVA, inhaled corticosteroids are recommended to improve cough. In patients with suspected chronic cough due to symptomatic GERD, proton pump inhibitors are recommended. Chronic bronchitis, bronchiectasis, bronchiolitis, lung cancer, aspiration, intake of angiotensin-converting enzyme inhibitor, intake of dipeptidyl peptidase-4 inhibitor, habitual cough, psychogenic cough, interstitial lung disease, environmental and occupational factors, tuberculosis, obstructive sleep apnea, peritoneal dialysis, and unexplained cough can also be considered as causes of a chronic cough. Chronic cough due to laryngeal dysfunction syndrome has been newly added to the guidelines.

• Journal of Life Science
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• v.31 no.5
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• pp.453-463
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• 2021

Hearing loss is a group of clinically and genetically heterogeneous disorders characterized by congenital- to adult-onset deafness with frequent additional symptoms such as myopathy, nephropathy, and optic disorders. It is commonly divided into two types: syndromic, with no other symptoms, and nonsyndromic, with other symptoms. Autosomal recessive hearing loss is relatively frequent in Pakistan, which may be due in part to frequent consanguineous marriages. This study was performed by whole exome sequencing to determine the genetic causes in two Pakistani consanguineous families with autosomal recessive hearing loss. We identified a pathogenic homozygous variant (p.Leu326Gln in MYO7A) in a family with prelingual-onset hearing loss and two variants of uncertain significance (p.Val3094Ile in GPR98 and p.Asp56Gly in PLA2G6) in a family with early-onset hearing loss concurrent with muscular atrophy. The missense mutations in MYO7A and PLA2G6 were located in the highly conserved sites, and in silico analyses predicted pathogenicity, while the GPR98 mutation was located in the less conserved site, and most in silico analysis programs predicted its nonpathogenic effect. Homozygosity mapping showed that both alleles of the homozygous mutations identified in each family originated from a single founder; spread from this single source might be due to consanguineous marriages. This study will help provide exact molecular diagnosis and treatment for autosomal recessive hearing loss patients in Pakistan.

• Journal of the Daesoon Academy of Sciences
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• v.37
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• pp.53-105
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• 2021

The purpose of this study is to clarify the meaning of Gwonji (權智, Authority and Foreknowledge) through the phrases contained in the section, Gwonji of the Jeon-gyeong (known in English as The Canonical Scripture), and to compare the changes that each verse from Gwonji underwent by juxtaposing it against the sixth edition of Daesoon Jeong-gyeong (which was published prior to the Jeon-gyeong) to explore the term's literary meaning. In order to save the world, Sangje descended to human world and performed the Cheonjigongsa (Reordering Works of the Universe) for nine years with the power he exercises over the Three Realms of Heaven, Earth, and Humanity. Based on the plan set by the Cheonjigongsa, Sangje's teachings were spread to humanity and provided as the basis for building the earthly paradise. From this perspective, this study demonstrates its significance by providing a comprehensive approach to the Jeon-gyeong by highlighting the subject of Sangje's authority and wisdom as recorded in the section titled Gwonji. There is also value in the variant verses from Gwonji that the study discovered by comparing and analyzing the phrases from chapters one and two of Gwonji as they appear in the Jeon-gyeong with their equivalents from the sixth edition of Daesoon Jeong-gyeong, which was published in 1965, nearly a decade before Daesoon Jinrihoe's publication of the Jeon-gyeong in 1974. The results of this comparative study of parallel passages related to Gwonji are as follows: First, Gwonji can be understood as the authority and wisdom of Sangje, and this is the core element in realizing the Earthly Paradise through His Cheonjigongsa. Second, phrases related to Sangje's authority and wisdom are spread out in the seven sections of the Jeon-gyeong, and they were written to emphasize the main purpose suggested in each section or chapter. Third, in sections other than Gwonji, the great power of Sangje is exercised to treat matters related to deities and social problems, whereas in Gwonji part, it is dedicated to the performance of Cheonjigongsa. Fourth, there are five sections of the Jeon-gyeong which are organized into chapters. All of these sections and their chapters indicate the year when key events transpired. Fifth, when passages from chapter one of Gwonji is compared to parallel passages from Daesoon Jeon-gyeong, there are several verses that vary in terms of their wording and also sentences that indicate a different dates or times for certain events.

• Journal of the Korean Society of Radiology
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• v.16 no.5
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• pp.567-574
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• 2022

Coronary artery disease (CAD) and atrial fibrillation (AF) are known to share many risk factors. In particular, in the case of acute coronary syndrome, it may be difficult to clearly determine the diameter of the vessel due to complete occlusion of the vessel and thrombus. Thus, the relationship between the diameter of the coronary arteries was evaluated to be used as a reference data before the treatment of coronary arteries and drug selection in patients with AF. From January 2020 to August 2022, images of coronary angiography (CAG) with AF and normal sinus rhythm (NSR) on electrocardiography were target. In both subjects, images of normal coronary artery without lesions as a result of CAG were used. For all vessels, the diameters of the vessels were measured by dividing them into proximal, middle, and distal parts, and the measured diameters were divided by the average for evaluation. As a result of analyzing the left anterior descending artery diameter, the vessel diameter of the AF patient was 2.24±0.26 mm, which was smaller than that of the NSR patient, 2.86±0.38 mm, and was statistically significant. (p<0.001) As a result of analyzing the left circumflex artery diameter, the vessel diameter of the AF patient was 2.34±0.28 mm, which was smaller than the vessel diameter of the NSR patient, 2.87±0.29 mm, and was statistically significant. (p<0.001) As a result of analyzing the diameter of the right coronary artery, the vessel diameter of the AF patient was 2.68±0.5 mm, which was smaller than the vessel diameter of the NSR patient, 3.35±0.4 mm, and was statistically significant. (p<0.001) Considering that the coronary artery size of AF patients is significantly smaller than the coronary vessel size of NSR patients, it is considered as a useful study to be used as a reference for evaluating coronary artery diameter when the arrhythmia is AF. In particular, it is considered to be a study that can be helpful in diagnosing lesions, using drugs before and after surgery, and choosing to use auxiliary devices such as intravascular ultrasound.