• Genomics & Informatics
• /
• v.9 no.2
• /
• pp.64-68
• /
• 2011

Monomelic amyotrophy (MA), also known as Hirayama disease, occurs mainly in young men and manifests as weakness and wasting of the muscles of the distal upper limbs. Here, we sought to identify a genetic basis for MA. Given the predominance of MA in males, we focused on candidate neurological disease genes located on the X chromosome, selecting two X-linked candidate genes, androgen receptor (AR ) and ubiquitin-like modifier activating enzyme 1 (UBA1). Screening for genetic variants using patients' genomic DNA revealed three known genetic variants in the coding region of the AR gene: one nonsynonymous single-nucleotide polymorphism (SNP; rs78686797) encoding Leu57Gln, and two variants of polymorphic trinucleotide repeat segments that encode polyglutamine (CAG repeat; rs5902610) and polyglycine (GGC repeat; rs3138869) tracts. Notably, the Leu57Gln polymorphism was found in two patients with MA from 24 MA patients, whereas no variants were found in 142 healthy male controls. However, the numbers of CAG and GGC repeats in the AR gene were within the normal range. These data suggest that the Leu57Gln polymorphism encoded by the X-linked AR gene may contribute to the development of MA.

• The Journal of Pediatrics of Korean Medicine
• /
• v.27 no.4
• /
• pp.39-49
• /
• 2013

Objectives In the theory of Korean medicine, rice straw (RS) has been used effectively as treatments for dyspepsia, diarrhea, enteritis, inflammatory epigastric diseases and various dermatitis. However, the theory has not been studied intensively yet about anti-inflammatory effects for human. This study was to investigate effects of RS for a treatment of allergic contact dermatitis (ACD) induced by 2,4-dinitrochlorobezene (DNCB) in mice. Methods In this experiment, effects of RS were investigated on changes in body weights, dorsum skin thickness, clinical aspects on the dorsum skin, spleen and body weight among these four groups; normal group (NOR), control group (CON), RS spread group (RSS) and RS spread and administer group (RSS+Adm). In addition, the effects on proliferations of splenocytes were also investigated in vitro and in vivo study. Results RSS group and RSS+Adm group showed increasing in body weights, diminished dorsum skin thickness and treated dermatitis on dorsum skin. In RSS+Adm group, spleen weights were lowered significantly compared to CON group. Conclusions In conclusion, these data suggest that RS can decrease symptoms of ACD significantly, and it shows the anti-inflammatory and immunosuppressant effect as well. Therefore, RS can be useful to treat patients with ACD.

• Journal of Korean Neurosurgical Society
• /
• v.64 no.2
• /
• pp.309-315
• /
• 2021

Objective : To explore the correlation between the polymorphism of histone deacetylase 9 gene (rs1060499865, rs723296, rs957960) and ischemic stroke (IS) in Chinese Han population in Dali region. Methods : This study included 155 IS patients and 128 healthy physical examinees. TaqMan-polymerase chain reaction technology and multivariate logistic regression were performed. Results : In the case group, there was no polymorphism of rs1060499865 observed in the two groups; whereas on the rs723296 locus the frequencies of C allele and TC genotype were significantly higher than that in the control group, alleles C and T were associated with a 2.158-fold increase in IS risk, and genotypes TC and TT were associated with a 2.269-fold increase in IS risk. The locus rs957960 exhibited no significant difference between the two groups. Conclusion : An association between rs723296 and the risk of IS was found in the Chinese Han population in Dali region. No significant association was found between rs1060499865, rs957960 and IS in the Chinese Han population in Dali region.

• Journal of the Korean Society of Food Science and Nutrition
• /
• v.42 no.4
• /
• pp.577-586
• /
• 2013

This study investigated black garlic and mugwort extracts have anti-stress activity. The antioxidant activities of extracts from black garlic (BEP), mugwort (MEP), and three mixtures (MPA, 95:5; MPB, 90:10; MPC, 85:15, w/w% for BEP and MEP, respectively) were tested in vitro. DPPH and ABTS radical scavenging activities for the mixtures (MPA, MPB and MPC) were significantly elevated in a dose-dependent manner by the amount of mugwort extract. A restraint stress was imposed on six groups of Sprague-Dawley rats supplemented with an AIN-93 diet (RSC) or one of five kinds of hot water extract drinks containing (black garlic, RS1; mugwort, RS2; and mixtures of black garlic : mugwort at 95:5, RS3; 90:10, RS4, and a mixture of black garlic : mugwort : apple extract : xylitol=90.25:4.75:2:3, RS5; v/v%) for 4 weeks. The normal group was fed with the AIN-93 diet and not exposed to restraint stress. Food intake was higher in the group fed with garlic extract (RS1), while the body weight gain and food efficiency ratio did not significantly change. The total serum cholesterol content in the RS1 and RS2 groups was significantly lower than the RSC group (control), and the RS5 group was not significantly different compared to the RS3 group. The serum triglyceride content was significantly higher RS3~RS5 groups than RS1 and RS2 groups. In terms of HDL-C and LDL-C contents, AI and CRF in the serum were not significantly different between RS3 and RS5 groups. AST and ALP activities of RS1~RS5 groups were significantly lower than the RSC group. The liver total lipid and cholesterol contents of RS1~RS5 groups were significantly lower than RSC group, and triglyceride content was significantly lower in the RS1 group. Glycogen in the liver tissue was significantly higher in the RS2 and RS3 group compared to the RSC group. These results show that the intake of a mixture of black garlic and mugwort extracts may be effective in the alleviation of hyperlipidemia caused by restraint stress.

• Asian Pacific Journal of Cancer Prevention
• /
• v.13 no.7
• /
• pp.3431-3436
• /
• 2012

Objective: X-ray cross-complementing group 4 (XRCC4) is a major repair gene for DNA double-strand breaks (DSB) in the non-homologous end-joining (NHEJ) pathway. Several potentially functional polymorphisms of the XRCC4 gene have been implicated in breast cancer risk, but individually published studies showed inconclusive results. The aim of this meta-analysis was to investigate the association between XRCC4 polymorphisms and the risk of breast cancer. Methods: The MEDLINE, EMBASE, Web of science and CBM databases were searched for all relevant articles published up to June 20, 2012. Potential associations were assessed with comparisons of the total mutation rate (TMR), complete mutation rate (CMR) and partial mutation rate (PMR) in cases and controls. Statistical analyses were performed using RevMan 5.1.6 and STATA 12.0 software. Results: Five studies were included with a total of 5,165 breast cancer cases and 4,839 healthy controls. Meta-analysis results showed that mutations of rs2075686 (C>T) and rs6869366 (G>T) in the XRCC4 gene were associated with increased risk of breast cancer, while rs2075685 (G>T) and rs10057194 (A>G) might decrease the risk of breast cancer. However, rs1805377 (A>G), rs1056503 (G>T), rs28360317 (ins>del) and rs3734091 (A>G) polymorphisms of XRCC4 gene did not appear to have an influence on breast cancer susceptibility. Conclusion: Results from the current meta-analysis suggest that the rs2075685 (G>T) and rs6869366 (G>T) polymorphisms of the XRCC4 gene might increase the risk of breast cancer, whereas rs2075685 (G>T) and rs10057194 (A>G) might be protective factors.

• Management & Information Systems Review
• /
• v.30 no.2
• /
• pp.237-255
• /
• 2011

This empirical study is focused on practical application of Range-Based Volatility which is estimated by opening, high, low, closing price of overall asset. Especially proper forecasting period is what I want to know. There is four useful Range-Based Volatility(RV) such as Parkinson(1980; PK), Garman and Klass(1980; GK) Rogers and Satchell(1991; RS), Yang and Zhang(2008; YZ). So, four RV of KOPSI 200 index during 2000.5.22-2009.9.18 was used for empirical test. The emprirical result as follows. First, the best RV which shows the best forecasting performance is PK volatility among PK, GK, RS, YZ volatility. According to estimating period forcasting performance of RV shows delicate difference. PK has better performance in the period with financial crisis of sub-prime mortgage loan. if not, RS is better. Second, almost result shows better performance on forecasting volatility without sub-prime mortgage loan period. so we can say that forecasting performance is lower when historical volatiltiy is comparatively high. Finally, I find that longer estimating period in AR(1) and MA(1) model can reduce forecasting error. More interesting point is that the result shows rapid decrease form 60 days to 90 days and there is no more after 90 days. So, if we forecast the volatility using Range-Based volaility it is better to estimate with 90 trading period or over 90 days.

• Asian Pacific Journal of Cancer Prevention
• /
• v.14 no.3
• /
• pp.2049-2052
• /
• 2013

The effects of polymorphisms in ERCC5, ERCC6, XPC, CCNH and MMS19L on osteosarcoma response to chemotherapy and the survival of the affected patients were assessed. Genotyping of ERCC5, ERCC6, XPC, CCNH and MMS19L was performed by PCR-RFLP assay. The median PFS was 12.8 months, and the median OS was 18.6 months. Individuals carrying homozygous genotypes of ERCC5 rs17655 and ERCC5 rs1047768 were more like to have good response to treatment, while those carrying homozygous genotypes of MMS19L rs29001322 showed poor response. Osteosarcoma patients carrying TT genotype of ERCC5 rs1047768 showed a significantly longer PFS (16.8 months) and OS (21.4 months) than CC genotype, with HRs(95% CI) of 0.31 (0.10-0.93) and 0.32 (0.06-0.97), respectively. Conversely, those with the TT genotype of MMS19L rs29001322 demonstrated shorter PFS and OS, the HRs (95% CI) being 2.23 (1.08-4.15) and 4.62 (1.45-16.08), respectively. Our findings showed polymorphisms in ERCC5 rs1047768 and MMS19L rs29001322 to be associated with clinical outcome of osteosarcoma patients undergoing chemotherapy.

• Asian Pacific Journal of Cancer Prevention
• /
• v.15 no.18
• /
• pp.7515-7520
• /
• 2014

Many studies have indicated possible associations between a polymorphism of adiponectin receptor 1 (ADIPOR1) rs1342387 and risk of cancer, but contradictory results have been reported. The main aim of this study was to draw a reliable conclusion about the relationship between the rs1342387 polymorphism and cancer incidence, by conducting a literature search of Pubmed, Embase, Wanfang and Cochrane libraries. Eleven studies including 3, 738 cases and 4, 748 controls were identified in this meta-analysis. The ADIPOR1 rs1342387 polymorphism was associated with risk of colorectal cancer for all genetic comparison models (GG vs AA, OR: 1.44, 95%CI: 1.21-1.70; G carriers vs A carriers, OR: 1.23, 95%CI: 1.11-1.36; dominant model, OR: 1.28, 95%CI: 1.10-1.49 and recessive model, OR: 1.31, 95%CI: 1.12-1.55). Stratified by ethnicity, the rs1342387 polymorphism was significantly associated with risk of colorectal cancer in Asian ancestry for all genetic comparison models (GG vs AA, OR: 1.56, 95%CI: 1.26-1.92; G carriers vs. A carriers OR: 1.30, 95%CI: 1.18-1.43; dominant model OR: 1.31, 95%CI: 1.08-1.60 and recessive model OR: 1.44, 95%CI: 1.26-1.64), but not in Caucasian or mixed (Caucasian mainly) groups. In summary, the ADIPOR1 rs1342387 polymorphism is significantly associated with risk of colorectal cancer among individuals of Asian ancestry.

• Genomics & Informatics
• /
• v.21 no.2
• /
• pp.26.1-26.9
• /
• 2023

Stevens-Johnson syndrome (SJS) produces a severe hypersensitivity reaction caused by Herpes simplex virus or mycoplasma infection, vaccination, systemic disease, or other agents. Several studies have investigated the genetic susceptibility involved in SJS. To provide further genetic insights into the pathogenesis of SJS, this study prioritized high-impact, SJS-associated pathogenic variants through integrating bioinformatic and population genetic data. First, we identified SJS-associated single nucleotide polymorphisms from the genome-wide association studies catalog, followed by genome annotation with HaploReg and variant validation with Ensembl. Subsequently, expression quantitative trait locus (eQTL) from GTEx identified human genetic variants with differential gene expression across human tissues. Our results indicate that two variants, namely rs2074494 and rs5010528, which are encoded by the HLA-C (human leukocyte antigen C) gene, were found to be differentially expressed in skin. The allele frequencies for rs2074494 and rs5010528 also appear to significantly differ across continents. We highlight the utility of these population-specific HLA-C genetic variants for genetic association studies, and aid in early prognosis and disease treatment of SJS.

• Asian Pacific Journal of Cancer Prevention
• /
• v.16 no.5
• /
• pp.1939-1944
• /
• 2015

MicroRNA-27a (miR-27a) is deemed to be an oncogene that plays an important role in development of various cancers, and single nucleotide polymorphism (SNP) of miR-27a can influence the maturation or aberrant expression of hsa-miR27a, resulting in increased risk of cancer and poor prognosis for non-small cell lung cancer (NSCLC). This study aimed to assess the effects of rs895819 within miR-27a on susceptibility and prognosis of NSCLC patients in 560 clinical confirmed cases and 568 healthy check-up individuals. Adjusted odds/hazard ratios (ORs/HRs) and 95% confidential intervals (CIs) were calculated to evaluate the association between rs895819 and the risk and prognosis of NSCLC. The results showed that allele A and genotype GG of rs895819 were significantly associated with an increased risk of NSCLC (38.9% vs 30.8%, adjusted OR=1.26, 95%CI=1.23-1.29 for allele G vs A; 18.1% vs 11.7%, adjusted OR=1.67, 95%CI=1.59-1.75 for genotype GG vs AA). Moreover, positive associations were also observed in dominant and recessive models (53.7% vs 49.9%, adjusted OR=1.17, 95%CI=1.13-1.20 for GG/AG vs AA; 18.1% vs 11.7%, adjusted=1.65, 95%CI=1.58-1.73). However, no significant association was found between rs895819 and the prognosis of NSCLC in genotype, dominant and recessive models. These results suggested that miR-27a might be involved in NSCLC carcinogenesis, but not in progression of NSCLC. The allele G, genotype GG and allele G carrier (GG/AG vs AA) of rs895819 might be genetic susceptible factors for NSCLC. Further multi-central, large sample size and well-designed prospective studies as well as functional studies are warranted to verify our findings.