• Genomics & Informatics
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• 제9권2호
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• pp.64-68
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• 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.

• 대한한방소아과학회지
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• 제27권4호
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• pp.39-49
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• 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
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• 제64권2호
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• pp.309-315
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• 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.

• 한국식품영양과학회지
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• 제42권4호
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• pp.577-586
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• 2013

In vitro에서 흑마늘과 쑥 추출분말 및 이들의 비율별 혼합물 3종(MPA, 95:5; MPB, 90:10; MPC, 85:15, w/w%)의 생리활성을 비교하였다. 또한 7 brix 흑마늘 추출물(BE), 0.7 brix 쑥 추출물(ME), 이들을 부피비로 95:5(MA), 90:10(MB) 및 90.25:4.75 혼합물에 사과 추출물과 자일리톨을 각각 2%와 3%를 첨가한 음료(MC)를 흰쥐에게 4주간 급이한 후 24시간 구속스트레스를 부과하여 생체내 지질 성분 변화에 미치는 영향을 평가하였다. In vitro에서 흑마늘 추출물과 쑥 추출물의 혼합물(MPA, MPB, MPC)은 쑥 추출물의 첨가량이 증가됨에 따라 DPPH 및 ABTS 라디칼 소거활성이 유의적으로 증가하였다. 흑마늘 추출물(RS1), 쑥 추출물(RS2), 혼합물 MA(RS3), MB(RS4) 및 MC(RS5)를 각각 1%씩 흰쥐의 식이에 첨가 급이한 결과 식이섭취량은 RS1군에서 가장 높았으며, 체중 증가량과 식이효율은 실험군 간에 유의차가 없었다. 혈청의 총 콜레스테롤의 함량은 구속 대조군(RSC군)에 비해 모든 실험군에서 유의적으로 낮은 함량이었으며, RS3~RS5군 간에는 유의차를 보이지 않았다. 혈중 중성지질의 함량은 RS3~RS5군이 RS1과 RS2군보다 유의적으로 높은 수준이었다. HDL-C 및 LDL-C 함량, 동맥경 화지수(AI), 심혈관질환 위험지수(CRF)는 RS3~RS5군 간에 유의차가 없었다. AST 및 ALP 활성은 RSC군에 비해 실험군들에서 유의적으로 낮았다. 간 조직의 총 지질과 총 콜레스테롤 함량은 RSC군에 비해 모든 실험군에서 유의적으로 낮았고, 중성지방 함량은 RS1군만이 유의적으로 낮은 함량이었다. 간 글리코겐 함량은 RSC군에 비해 RS2와 RS3군이 유의적으로 높았고, 그 외 실험군에서는 유의차가 적었다. 지질과산화물 함량은 RSC군에 비해 실험군에서 유의적으로 낮았으며, RS3과 RS5군이 유사한 수준이었다. 본 연구결과에서 흑마늘 추출물, 쑥 추출물, 혼합물 및 개발 음료의 급이는 스트레스 부과로 증가될 수 있는 체내 지질 수준의 감소에 효과적이었다. 또한 각 물질의 단독 급이보다 혼합물의 급이시 더 효과적인 것으로 나타나 혼합물을 이용한 개발음료는 현대인의 복잡하고 다양한 스트레스 발생 시 생체대사 조절에 도움이 될 것으로 사료된다.

• Asian Pacific Journal of Cancer Prevention
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• 제13권7호
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• pp.3431-3436
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• 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.

• 경영과정보연구
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• 제30권2호
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• pp.237-255
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• 2011

변동성을 측정하는 데에는 주로 종가기반(close-to-close)의 수익률 자료를 이용하여 이루어지고 있지만, 일중 변동폭을 나타내는 가격범위에 관한 정보인 고가와 저가를 포함한 범위변동성에 대한 연구가 최근 활발해지고 있다. 본 연구는 범위 변동성에 대한 개념이 생긴 이후 최근 확장되고 있는 다양한 연구주제와 더불어 범위변동성을 실무적으로 활용하기 위한 것으로 범위변동성 예측에 있어 적절한 예측기간을 제시하는 것을 목적으로 하고 있다. 범위변동성은 Parkinson(1980; PK), Garman and Klass(1980; GK) Rogers and Satchell(1991; RS), Yang and Zhang(2008; YZ)이 제시한 추정치를 이용하였으며, AR(1), MA(1)모형을 이용하여 예측된 변동성과 실현변동성간의 예측오차를 비교하는데 이때 예측기간을 시변하여 산출함으로써 예측력을 비교분석하였다. 2000.5.22~2009.9.18(총 2,307일간)의 KOSPI200지수를 대상으로 분석한 결과는 다음과 같다. 첫째, PK, GK, RS, YZ 변동성 중 KOSPI200의 변동성을 가장 잘 예측하는 변동성은 PK변동성 또는 RS변동성으로 보인다. 두 변동성의 예측력 우위는 분석기간에 따라 미세한 차이를 보이는데 금융위기를 포함하는 경우 PK변동성이 우수하며, 포함하지 않는 경우는 RS변동성이 우수한 것으로 나타났다. 둘째, 금융위기를 포함하지 않는 경우 대부분의 경우 예측오차가 크게 줄어드는 것으로 나타나 금융위기처럼 변동성이 크게 나타나는 경우에는 범위변동성을 이용한 변동성예측력이 상당히 떨어질 수 있음을 확인하였다. 셋째, 범위변동성을 이용하여 변동성을 예측하는 경우 AR(1), MA(1)모형의 모수추정기간을 길게 하는 경우 예측오차의 평균은 감소하는 경향이 확인되었다. 특징적인 점은 60일 또는 90일로 기간을 늘일 경우에 예측오차가 급격하게 감소하는 경향을 보이는 것인데, 각각의 변동성과 예측모형에 따라 다소의 차이가 나타난다. 그리고, 예측오차의 편차는 90일 이후 큰 변화를 보이지 않고 있는 것으로 보인다. 따라서, 범위변동성을 이용하여 범위변동성을 예측할 경우 90거래일 이상의 가격 정보를 이용하여 예측을 하는 것이 예측오차를 줄여 예측력을 높일 수 있을 것으로 판단된다.

• Asian Pacific Journal of Cancer Prevention
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• 제14권3호
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• pp.2049-2052
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• 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
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• 제15권18호
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• pp.7515-7520
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• 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
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• 제21권2호
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• pp.26.1-26.9
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• 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
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• 제16권5호
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• pp.1939-1944
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• 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.