• 제목/요약/키워드: Variant

검색결과 1,979건 처리시간 0.032초

Meta-analysis of Associations between ATM Asp1853Asn and TP53 Arg72Pro Polymorphisms and Adverse Effects of Cancer Radiotherapy

  • Su, Meng;Yin, Zhi-Hua;Wu, Wei;Li, Xue-Lian;Zhou, Bao-Sen
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권24호
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    • pp.10675-10681
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    • 2015
  • Background: The ataxia telangiectasia mutated (ATM) protein and p53 play key roles in sensing and repairing radiation-induced DNA double strand breaks (DSBs). Accumulating epidemiological evidence indicates that functional genetic variants in ATM and TP53 genes may have an impact on the risk of radiotherapy-induced side effects. Here we performed a meta-analysis to investigate the potential interaction between ATM Asp1853Asn and TP53 polymorphisms and risk of radiotherapy-induced adverse effects quantitatively. Materials and Methods: Relevant articles were retrieved from PubMed, ISI Web of Science and the China National Knowledge Infrastructure (CNKI) databases. Eligible studies were selected according to specific inclusion and exclusion criteria. Odds ratios (ORs) and 95% confidence intervals (CIs) were pooled to estimate the association between ATM Asp1853Asn and TP53 Arg72Pro polymorphisms and risk of radiotherapy adverse effects. All analyses were performed using the Stata software. Results: A total of twenty articles were included in the present analysis. In the overall analysis, no significant associations between ATM Asp1853Asn and TP53 Arg72Pro polymorphisms and the risk of radiotherapy adverse effects were found. We conducted subgroup analysis stratified by type of cancer, region and time of appearance of side effects subsequently. No significant association between ATM Asp1853Asn and risk of radiotherapy adverse effects was found in any subgroup analysis. For TP53 Arg72Pro, variant C allele was associated with decreased radiotherapy adverse effects risk among Asian cancer patients in the stratified analysis by region (OR=0.71, 95%CI: 0.54-0.93, p=0.012). No significant results were found in the subgroup analysis of tumor type and time of appearance of side effects. Conclusions: The TP53 Arg72Pro C allele might be a protective factor of radiotherapy-induced adverse effects among cancer patients from Asia. Further studies that take into consideration treatment-related factors and patient lifestyle including environmental exposures are warranted.

Association of Polymorphisms in Stress-Related TNFα and NPY Genes with the Metabolic Syndrome in Han and Hui Ethnic Groups

  • Bu, De-Yun;Ji, Wen-Wu;Bai, Dan;Zhou, Jian;Li, Hai-Xia;Yang, Hui-Fang
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권14호
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    • pp.5895-5900
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    • 2014
  • Background: Metabolic syndrome (MS) is a cluster of complicated disorders caused by the interactive influencing factors of heredity and environment, which predisposes to many cnacers. Results from epidemic research indicate that stress is tightly related to the pathogenesis of MS and neoplasia. This paper aims to investigate the association between psychological stress and MS with respect to the tumor necrosis factor alpha (TNF${\alpha}$) and neuropeptide Y (NPY) genes in the Han and Hui ethnic groups. Methods: All subjects for this case-control study matched strict enrollment criteria (nationality, gender and age) and lived in the city of Wu Zhong of Ningxia Province in China. The enrolled group contained 102 matched pairs of Hui ethnic individuals and 98 matched pairs of Han ethnic individuals. Enrolled subjects completed the general Symptom Checklist-90 (SCL-90). The TNF${\alpha}$-308G/A variant and NPYrs16147 polymorphism were detected in case (81 males, 119 females) and control (81 males, 119 females) groups by polymerase chain reaction (PCR) amplification. Results: Nine factors of the SCL-90 were found to be statistically different (p<0.05) between case and control groups. The homozygous mutant genotype (AA) and the mutant allele (A) of the TNF${\alpha}$-308G/A gene were less frequently observed in the control population compared to the case group. The odds ratio (95% confidence interval) in "Allele" for MS was 2.28 (1.47-3.53), p=0.0001, while "OR" was 1.11 (0.83-1.47), p=0.15, for the NPYrs16147 gene polymorphism. Conclusions: Psychological stress has been positively associated with MS. A previous study from our group suggested there were differences in the level of psychological stress between Hui and Han ethnic groups. Furthermore, we found that the stress-related TNF${\alpha}$ gene was associated with MS for both Han and Hui ethnic groups. In contrast, NPY may be a possible contributor to MS and associated cancer for the Han ethnic group.

Association of DNA Base-excision Repair XRCC1, OGG1 and APE1 Gene Polymorphisms with Nasopharyngeal Carcinoma Susceptibility in a Chinese Population

  • Li, Qing;Wang, Jian-Min;Peng, Yu;Zhang, Shi-Heng;Ren, Tao;Luo, Hao;Cheng, Yi;Wang, Dong
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권9호
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    • pp.5145-5151
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    • 2013
  • Background: Numerous carcinogens and reactive oxygen species (ROS) may cause DNA damage including oxidative base lesions that lead to risk of nasopharyngeal carcinoma. Genetic susceptibility has been reported to play a key role in the development of this disease. The base excision repair (BER) pathway can effectively remove oxidative lesions, maintaining genomic stability and normal expression, with X-ray repair crosscomplementing1 (XRCC1), 8-oxoguanine glycosylase-1 (OGG1) and apurinic/apyimidinic endonuclease 1 (APE1) playing important roles. Aims: To analyze polymorphisms of DNA BER genes (OOG1, XRCC1 and APE1) and explore their associations, and the combined effects of these variants, with risk of nasopharyngeal carcinoma. Materials and Methods: We detected SNPs of XRCC1 (Arg399Gln), OGG1 (Ser326Cys), APE1 (Asp148Glu and -141T/G) using the polymerase chain reaction (PCR) with peripheral blood samples from 231 patients with NPC and 300 healthy people, furtherly analyzing their relations with the risk of NPC in multivariate logistic regression models. Results: After adjustment for sex and age, individuals with the XRCC1 399Gln/Gln (OR=1.96; 95%CI:1.02-3.78; p=0.04) and Arg/Gln (OR=1.87; 95%CI:1.29-2.71; p=0.001) genotype variants demonstrated a significantly increased risk of nasopharyngeal carcinoma compared with those having the wild-type Arg/Arg genotype. APE1-141G/G was associated with a significantly reduced risk of NPC (OR=0.40;95%CI:0.18-0.89) in the smoking group. The OR calculated for the combination of XRCC1 399Gln and APE1 148Gln, two homozygous variants, was significantly additive for all cases (OR=2.09; 95% CI: 1.27-3.47; p=0.004). Conclusion: This is the first study to focus on the association between DNA base-excision repair genes (XRCC1, OGG1 and APE1) polymorphism and NPC risk. The XRCC1 Arg399Gln variant genotype is associated with an increased risk of NPC. APE1-141G/G may decrease risk of NPC in current smokers. The combined effects of polymorphisms within BER genes of XRCC1 399Gln and APE1 148Gln may contribute to a high risk of nasopharyngeal carcinoma.

Is there an Association between Variants in Candidate Insulin Pathway Genes IGF-I, IGFBP-3, INSR, and IRS2 and Risk of Colorectal Cancer in the Iranian Population?

  • Karimi, Khatoon;Mahmoudi, Touraj;Karimi, Negar;Dolatmoradi, Hesamodin;Arkani, Maral;Farahani, Hamid;Vahedi, Mohsen;Parsimehr, Elham;Dabiri, Reza;Nobakht, Hossein;Asadi, Asadollah;Zali, Mohammad Reza
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권9호
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    • pp.5011-5016
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    • 2013
  • Background: Several epidemiological studies have shown associations between colorectal cancer (CRC) risk and type 2 diabetes and obesity. Any effects would be expected to be mediated through the insulin pathway. Therefore it is possible that variants of genes encoding components of the insulin pathway play roles in CRC susceptibility. In this study, we hypothesized that polymorphisms in the genes involving the insulin pathway are associated with risk of CRC. Materials and Methods: The associations of four single nucleotide polymorphisms (SNPs) in IGF-I (rs6214), IGFBP-3 (rs3110697), INSR (rs1052371), and IRS2 (rs2289046) genes with the risk of CRC were evaluated using a case-control design with 167 CRC cases and 277 controls by the PCR-RFLP method. Results: Overall, we observed no significant difference in genotype and allele frequencies between the cases and controls for the IGF-I, IGFBP-3, INSR, IRS2 gene variants and CRC before or after adjusting for confounders (age, BMI, sex, and smoking status). However, we observed that the IRS2 (rs2289046) GG genotype compared with AA+AG genotypes has a protective effect for CRC in normal weight subjects (p=0.035, OR=0.259, 95%CI= 0.074-0.907). Conclusions: These findings do not support plausible associations between polymorphic variations in IGF-I, IGFBP-3, INSR, IRS2 genes and risk of CRC. However, the evidence for a link between the IRS2 (rs2289046) variant and risk of CRC dependent on the BMI of the subjects, requires confirmation in subsequent studies with greater sample size.

주파수 종속 다중경로 페이딩이 비코히어런트 수중통신시스템에 미치는 영향 (Effect of frequency dependent multipath fading on non-coherent underwater communication system)

  • 김종주;박지현;배민자;박규칠;윤종락
    • 한국음향학회지
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    • 제35권4호
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    • pp.295-302
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    • 2016
  • 수중음향 채널은 다양한 경로들이 상호 간섭하여 주파수에 따른 보강 또는 상쇄 간섭을 보이는 다중경로 페이딩 채널로 정의된다. 따라서 수신신호의 신호 대 잡음비는 주파수에 따라 변화한다. 아울러 해면변동은 해면 반사경로의 코히어런트 성분의 주파수에 따른 시변 페이딩을 야기한다. 주파수 편이 키잉 시스템은 이러한 간섭과 페이딩에 덜 민감하여 강인한 시스템으로 알려져 있으며 전송률을 높이기 위해 다진 주파수 편이 키잉 시스템으로 사용되고 있다. 본 연구에서는 4 채널 4진 주파수 편이 키잉 시스템의 비트오류율을 천해 다중경로 채널에서 실험하였다. 실험결과 주파수 종속 시변 수중 음향 다중경로 페이딩은 연집오류를 발생시키는 특성을 보여 리드 솔로몬 코드가 4진 주파수 편이 키잉 시스템의 비트오류율을 효과적으로 경감시키는지를 보였다. 따라서 데이터 전송율 혹은 송수신기 거리에 따른 비트 오류율은 채널의 대역폭뿐만 아니라 주파수 종속 다중 경로 페이딩에 좌우됨을 보인다.

설신경 손상 환자의 회복에 대한 후향적 연구 (Recovery of lingual nerve injury: retrospective observational study)

  • 홍동환;임호경;김성민;김명진;이종호
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • 제37권5호
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    • pp.355-364
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    • 2011
  • Introduction: This study evaluated nerve recovery through retrospective study of patients with lingual nerve damage. Patients and Methods: The patients who visited Seoul National University Dental Hospital for an injury to the lingual nerve from April 1988 to August 2009 were enrolled in this study (n=41). The relevance of various factors including the causes of damage, age, etc. was analyzed by the subjective improvement based upon questionnaires and the clinical records. The evaluation variants were a subjective assessment and neurosensory examination composed of the direction, contact threshold, two-point discrimination, pin prick, thermal discrimination and current perception threshold. Results: The causes of lingual nerve damage were an extraction of the lower third molar (75.6%), local anesthesia (9.7%), incision and drainage (4.88%), trauma (2.44%). The evaluation of subjective prognosis exhibited no difference in sensory improvement depending on the cause, age and gender. Based upon the subjective evaluation, 44.7% of patients showed sensory improvement. The first hospital visit from injury was shorter in the group showing subjective improvement (3.41 months) than those showing no improvement (5.24 months) (P=0.301). Thirty six out of 41 patients were treated with only conservative therapy and 5 patients were treated by surgical intervention. Neurosensory examinations revealed improvement, although not statistically significant, and the degree was higher in the subjectively improved group. The contact threshold discrimination showed the highest correlation with subjective improvement (P=0.069). Most of the sensory recovery was gained within 12 months and the degree of improvement at the tip of the tongue was higher than that of the dorsum (P<0.001). Conclusion: The damaged lingual nerve improved at a rate of 44.7% and mostly within 12 months after the incident. There was no difference between the subjective prognosis and neurosensory examination depending on the cause of damage, age and gender, whereas the contact threshold discrimination was the best variant that reflected the subjective prognosis statistically.

농촌지역 시설원예단지의 경관 개선을 위한 이미지평가 (A Study on the Image Evaluation for the Improvement of the Landscape of Horticultural Complex in Rural Area)

  • 공민재;이시영;강동현;박민정;윤성욱;신지훈;손진관
    • 생물환경조절학회지
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    • 제26권2호
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    • pp.78-86
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    • 2017
  • 본 연구는 시설원예단지의 경관개선점을 찾아보고 친환경적 조성방법과 생태계 서비스 기능이 최소화로 저감될 수 있는 방안제시를 목표로 했다. 연구결과 대부분의 평가요소에서 네덜란드, 일본 경관은 긍정적인 결과였으나 우리나라 경관은 다소 부정적으로 분석되어 비닐하우스는 일본을 유리온실은 네덜란드 경관으로 개선방향을 설정 할 것을 제안하였다. 따라서 미래세대에 지속가능한 농업경관을 제공하기 위한 방안으로 생태계서비스 기능 중 경관창출을 고려한 친환경 온실단지 조성을 제안을 제안하였으며, 앞으로 추진될 대규모 간척지 개발 사업에도 본 연구가 활용되길 기대하였다.

Lactobacillus casei Bacperiophage의 분류 및 특성에 관한 연구 (Classification and Characterization of Bacteriophages of Lectobacillus casei)

  • 김영창;박민철;강국희;윤영호;이광웅
    • 미생물학회지
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    • 제17권4호
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    • pp.165-178
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    • 1979
  • Phages of Lactobaciilus casei (PLC) isolated from plant drainage were classified and characterized. The results are as follows : 1. On the basis of host range pattern, phages could be divided into 2 groups (PLC-B and PLC-C). PLC-B group phages could be further divided into 5 sub-groups $(B_1, \;B_2, \;B_3, \;B_4, \;and\;B_5)$. Although PLC-C group phages had the same host range, they could be also divided into 2 sub-groups $(C_1\;and\;C_2)$ by morphlogical type. 2. It was $B_3$ group phages that represented a major proportion (44.4%) of phages tested. However, $B_1$ group phages were shown to have the widest host range. 3. Electron micrographs revealed that the phages fell into three different morphological types. $(B_1, \;B_2, \;and\;B_3)$ group phages hd a hexagonal head (52nm in diameter) and a sheathless noncontractile (245 nm in length). $B_4\;and\;C_2$ group phages had a hexagonal head (56 nm) and a short flexible tail (169nm) having no sheath. $B_5\;and\;C_1$ group phages were shown to have a hexagonal head (81 nm) and a contractile tail (140 nm) having a sheath, a base plate and tail fibers. 4. The inactivation of the phages by antisera indicated that serological relationships correlated completely with morphological types. 5. $B_1, \;C_1\;and\;C_2$ group phages produced a large (1, 2 mm in diameter) plaque with a clear ring. The morphology of plaques of $B_3\;and\;B_5$ group phages was the same as those produced by the above, but the average plaque sizes for $B_3\;and\;B_5$ were 0.8 mm abd 0.5 mm, respectively. $B_2\;and\;B_4$ group phages produced a small (0.5 mm) turbid plaque with an irregular edge. 6. The latent period and the average burst size of $B_1\;and\;B_3$ group phages were 90 min and 100, respectively. These phages reuqired calcium ions for their miltiplication. 7. $B_3$ group phages could not be absrobed to R-variant $KC_1$. 8. The order of resistance of phages to heat was $B_2\;>\;B_1, B_4\;and\;B_5\;>\;B_3\;and\;C_2, \;B_5$ group phages were more stable than $B_3$ in various pH values. $C_2$ group phages were more sensitive to UV irradiation than $B_1\;and\;B_3$ group phages. 9. Strains YIT9018 and IAM 1043 were induced by mitomycin C treatment. Phage particles detected in the lysates had a hexagonal head (38 and 49 nm, respectively), but no tail. Any sensitive indicator strain could not be isolated in spite of repaeated trials.

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블록 경계 영역 특성을 이용한 블록 부호화 영상에서의 양자화 잡음 제거 (Quantization Noise Reduction in Block-Coded Video Using the Characteristics of Block Boundary Area)

  • 권기구;양만석;마진석;임성호;임동선
    • 정보처리학회논문지B
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    • 제12B권3호
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    • pp.223-232
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    • 2005
  • 본 논문에서는 블록 기반으로 부호화된 영상에 대하여 블록 경계 영역 특성에 따른 적응적 필터링을 이용한 양자화 잡음 제거 알고리즘을 제안하였다 제안한 방법에서는 블록 경계에 인접한 네 개 화소들의 통계적 특성을 이용하여 각 블록 경계 영역을 평탄 부영역(smooth sub-region)과 복잡 부영역(complex sub-region)으로 분류한 후, 인접 블록간 영역 특성을 이용하여 서로 다른 블록간 필터링을 수행한다. 먼저 인접 블록 모두 평탄 부영역인 경우에는 평탄 블록 경계 영역 중 블록화 현상이 발생하지 않은 영역도 존재하기 때문에 계산량을 줄이기 위하여 평탄 영역 중 블록화 현상이 발생한 영역만을 검출하여 필터링을 수행한다. 그리고, 두 부영역이 서로 다른 부영역인 경우에 대하여서는 기존의 방법들과는 달리 실제 에지 성분을 보존하면서 블록화 현상과 에지 주위에서 발생하는 링잉 현상을 동시에 제거하기 위하여 인접 블록의 영역 특성에 따라 적응적으로 일차원 필터링을 수행한다. 두 부영역이 모두 복잡 부영역일 경우에는 블록화 현상을 제거하면서 실제 에지를 보존하기 위하여 블록화 강도 및 양자화 파라미터에 따라 블록 경계 영역의 두 화소에 대하여 필터링을 수행한다. 모의실험 결과를 통하여 제안한 방법이 객관적 화질 및 주관적 화질 측면에서 기존의 방법보다 그 성능이 우수함을 확인하였다.

Avoidance of Internal Resonances in Hemispherical Resonator Assemblies from Fused Quartz Connected by Indium Solder

  • 세르게이 사라플로프;이희남;박상진
    • 한국소음진동공학회:학술대회논문집
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    • 한국소음진동공학회 2013년도 춘계학술대회 논문집
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    • pp.835-841
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    • 2013
  • Modern solid-state gyroscopes (HRG) with hemispherical resonators from high-purity quartz glass and special surface superfinishing and ultrathin gold coating become the best instruments for precise-grade inertial reference units (IRU) targeting long-term space missions. Designing of these sensors could be a notable contribution into development of Korea as a space nation. In participial, 40mm diameter thin-shell resonator from high-purity fused quartz, fabricated as a single-piece with its supporting stem has been designed, machined, etched, tuned, tested, and delivered by STM Co. (ATS of Ukraine) several years ago; an extremely-high Q-factor (upto 10~20 millions) has been shown. Understanding of the best way how to match such a unique sensor with inner glass assembly of the gyro means how to use the high potential in a maximal extent; and this has become the urgent task. Inner quartz glass assembly has a very thin indium (In) layer soldered the resonator and its silica base (case), but effects of internal resonances between operational modal pair of the shell-cup and its side (parasitic) modes can notable degrade the potential of the sensor as a whole, instead of so low level of resonator's intrinsic losses. Unfortunately, there are special combinations of dimensions of the parts (so-called, "resonant sizes"), when intensive losses of energy occurs. The authors proposed to use the length of stem's fixture as an additional design parameter to avoid such cases. So-called, a cyclic scheme of finite element method (FEM) and ANSYS software were employed to estimate different combinations of gyro assembly parameters. This variant has no mismatches of numerical origin due to FEM's discrete mesh. The optimum length and dangerous "resonant lengths" have been found. The special attention has been paid to analyses of 3D effects in a cup-stem transient zone, including determination of a difference between the positions of geometrical Pole of the resonant hemisphere and of its "dynamical Pole", i.e., its real zone of oscillation node. Boundary effects between the shell (cup) and 3D short "beams" (inner and outer stems) have been ranged. The results of the numerical experiments have been compared with the classic model of a quasi-hemispherical shell band with inextensional midsurface, and the solution using Rayleigh's functions of the $1^{st}$ and $2^{nd}$ kinds. To guarantee the truth of the recommended sizes to a designer of the real device, the analytical and FEM results have been compared with experimental data for a party of real resonators. The consistency of the results obtained by different means has been shown with errors less than 5%. The results notably differ from the data published earlier by different researchers.

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