• Title/Summary/Keyword: Genetic susceptibility

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A constrained minimization-based scheme against susceptibility of drift angle identification to parameters estimation error from measurements of one floor

  • Kangqian Xu;Akira Mita;Dawei Li;Songtao Xue;Xianzhi Li
    • Smart Structures and Systems
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    • v.33 no.2
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    • pp.119-131
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    • 2024
  • Drift angle is a significant index for diagnosing post-event structures. A common way to estimate this drift response is by using modal parameters identified under natural excitations. Although the modal parameters of shear structures cannot be identified accurately in the real environment, the identification error has little impact on the estimation when measurements from several floors are used. However, the estimation accuracy falls dramatically when there is only one accelerometer. This paper describes the susceptibility of single sensor identification to modelling error and simulations that preliminarily verified this characteristic. To make a robust evaluation from measurements of one floor of shear structures based on imprecisely identified parameters, a novel scheme is devised to approximately correct the mode shapes with respect to fictitious frequencies generated with a genetic algorithm; in particular, the scheme uses constrained minimization to take both the mathematical aspect and the realistic aspect of the mode shapes into account. The algorithm was validated by using a full-scale shear building. The differences between single-sensor and multiple-sensor estimations were analyzed. It was found that, as the number of accelerometers decreases, the error rises due to insufficient data and becomes very high when there is only one sensor. Moreover, when measurements for only one floor are available, the proposed method yields more precise and appropriate mode shapes, leading to a better estimation on the drift angle of the lower floors compared with a method designed for multiple sensors. As well, it is shown that the reduction in space complexity is offset by increasing the computation complexity.

A Color-Reaction-Based Biochip Detection Assay for RIF and INH Resistance of Clinical Mycobacterial Specimens

  • Xue, Wenfei;Peng, Jingfu;Yu, Xiaoli;Zhang, Shulin;Zhou, Boping;Jiang, Danqing;Chen, Jianbo;Ding, Bingbing;Zhu, Bin;Li, Yao
    • Journal of Microbiology and Biotechnology
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    • v.26 no.1
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    • pp.180-189
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    • 2016
  • The widespread occurrence of drug-resistant Mycobacterium tuberculosis places importance on the detection of TB (tuberculosis) drug susceptibility. Conventional drug susceptibility testing (DST) is a lengthy process. We developed a rapid enzymatic color-reaction-based biochip assay. The process included asymmetric multiplex PCR/templex PCR, biochip hybridization, and an enzymatic color reaction, with specific software for data operating. Templex PCR (tem-PCR) was applied to avoid interference between different primers in conventional multiplex-PCR. We applied this assay to 276 clinical specimens (including 27 sputum, 4 alveolar lavage fluid, 2 pleural effusion, and 243 culture isolate specimens; 40 of the 276 were non-tuberculosis mycobacteria specimens and 236 were M. tuberculosis specimens). The testing process took 4.5 h. A sensitivity of 50 copies per PCR was achieved, while the sensitivity was 500 copies per PCR when tem-PCR was used. Allele sequences could be detected in mixed samples at a proportion of 10%. Detection results showed a concordance rate of 97.46% (230/236) in rifampicin resistance detection (sensitivity 95.40%, specificity 98.66%) and 96.19% (227/236) in isoniazid (sensitivity 93.59%, specificity 97.47%) detection with those of DST assay. Concordance rates of testing results for sputum, alveolar lavage fluid, and pleural effusion specimens were 100%. The assay provides a potential choice for TB diagnosis and treatment.

Genetic Character and Insecticide Susceptibility on a Korean Population of a Subtropical Species, Maruca vitrata (아열대성 콩명나방의 국내 집단에 대한 유전적 특성과 살충제 감수성 분석)

  • Kim, Yonggyun;Sadekuzzaman, Md.;Kim, Minhyun;Kim, Kyusoon;Park, Youngjin;Jung, Jin Kyo
    • Korean journal of applied entomology
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    • v.55 no.3
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    • pp.257-266
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    • 2016
  • Subtropical insect pests expand their habitats by migration to temperate zones along with global climate change. A subtropical insect pest, Maruca vitrata, is infesting leguminous crops including azuka beans in Korea and gives significant economic damages. Its great genetic variation raised an issue of the origin of a Korean M. vitrata population. To understand the genetic character of the Korean population, its cytochrome oxidase subunit 1 (cox 1) gene was sequenced and phylogenetically analyzed with other regional populations. The world populations of M. vitrata were grouped into three clusters: Asia-African, American, and Oceanian. The Korean population was classified into Asia-African cluster. To characterize the insecticide susceptibility of the Korean population, seven different insecticides (4 neutoxic insecticides, 1 insect growth regulator, 2 biopesticides) were assessed. Young larvae of M. vitrata were relatively susceptible to all tested insecticides. However, old larvae were much less susceptible than young larvae. No test insecticides effectively (> 50%) killed the old larvae of M. vitrata within 7 days.

Association of Estrogen Receptor Alpha and Interleukin 6 Polymorphisms with Lymphovascular Invasion, Extranodal Extension, and Lower Disease-Free Survival in Thai Breast Cancer Patients

  • Sa-Nguanraksa, Doonyapat;Suntiparpluacha, Monthira;Kulprom, Anchalee;Kummalue, Tanawan;Chuangsuwanich, Tuenjai;Avirutnan, Panissadee;O-Charoenrat, Pornchai
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.6
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    • pp.2935-2940
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    • 2016
  • Breast cancer is the most frequent type of cancer diagnosed among women worldwide and also in Thailand. Estrogen and estrogen receptors exert important roles in its genesis and progression. Several cytokines have been reported to be involved in the microenvironment that promotes distant metastasis via modulation of immune and inflammatory responses to tumor cells. Estrogen receptor genetic polymorphisms and several cytokines have been reported to be associated with breast cancer susceptibility and aggressiveness. To investigate roles of genetic polymorphisms in estrogen receptor alpha (ESR1) and interleukin 6 (IL6), breast cancer patients and control subjects were recruited from the Division of Head, Neck and Breast Surgery (Siriraj Hospital, Bangkok, Thailand). Polymorphisms in ESR1 (rs3798577) and IL6 (rs1800795 and rs1800797) were evaluated by real-time PCR in 391 breast cancer patients and 79 healthy controls. Associations between genetic polymorphisms and clinicopathological data were determined. There was no association between genetic polymorphisms and breast cancer susceptibility. However the ESR1 rs3798577 CT genotype was associated with presence of lymphovascular invasion (OR=2.07, 95%CI 1.20-3.56, p=0.009) when compared to the TT genotype. IL6 rs1800795 CC genotype was associated with presence of extranodal extension (OR= 2.30, 95%CI 1.23-4.31, p=0.009) when compared to the GG genotype. Survival analysis showed that IL6 rs1800797 AG or AA genotypes were associated with lower disease-free survival. These findings indicate that polymorphisms in ESR1 and IL6 contribute to aggressiveness of breast cancer and may be used to identify high risk patients.

Updated Meta-analysis on HER2 Polymorphisms and Risk of Breast Cancer: Evidence from 32 Studies

  • Chen, Wei;Yang, Heng;Tang, Wen-Ru;Feng, Shi-Jun;Wei, Yun-Lin
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.22
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    • pp.9643-9647
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    • 2014
  • Background: Several studies have been performed to investigate the association of the HER2 Ile655Val polymorphism and breast cancer risk. However, the results were inconsistent. To understand the precise relationship, a meta-analysis was here conducted. Materials and Methods: A search of PubMed conducted to investigate links between the HER2 Ile655Val polymorphism and breast cancer, identified a total of 32 studies, of which 29, including 14,926 cases and 15,768 controls, with odds ratios (ORs) with 95% confidence intervals were used to assess any association. Results: In the overall analysis, the HER2 Ile655Val polymorphism was associated with breast cancer in an additive genetic model (OR=1.136, 95% CI 1.043-1.239, p=0.004) and in a dominant genetic (OR=1.118, 95% CI 1.020-1.227, p=0.018), while no association was found in a recessive genetic model. On subgroup analysis, an association with breast cancer was noted in the additive genetic model (OR=1.111, 95% CI: 1.004-1.230, p=0.042) for the Caucasian subgroup. No significant associations were observed in Asians and Africans in any of the genetic models. Conclusions: In summary, our meta-analysis findings suggest that the HER2 Ile655Val polymorphism is marginally associated with breast cancer susceptibility in worldwide populations with additive and dominant models, but not a recessive model.

Genome-Wide Association Study of Liver Enzymes in Korean Children

  • Park, Tae-Joon;Hwang, Joo-Yeon;Go, Min Jin;Lee, Hye-Ja;Jang, Han Byul;Choi, Youngshim;Kang, Jae Heon;Park, Kyung Hee;Choi, Min-Gyu;Song, Jihyun;Kim, Bong-Jo;Lee, Jong-Young
    • Genomics & Informatics
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    • v.11 no.3
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    • pp.149-154
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    • 2013
  • Liver enzyme elevations, as an indicator of liver function, are widely associated with metabolic diseases. Genome-wide population-based association studies have identified a genetic susceptibility to liver enzyme elevations and their related traits; however, the genetic architecture in childhood remains largely unknown. We performed a genome-wide association study to identify new genetic loci for liver enzyme levels in a Korean childhood cohort (n = 484). We observed three novel loci (rs4949718, rs80311637, and rs596406) that were multiply associated with elevated levels of alanine transaminase and aspartate transaminase. Although there are some limitations, including genetic power, additional replication and functional characterization will support the clarity on the genetic contribution that the ST6GALNAC3, ADAMTS9, and CELF2 genes have in childhood liver function.

Replication Association Study between RBC Indices and Genetic Variants in Korean Population

  • Lee, Sang In;Park, Sangjung;Jin, Hyun-Seok
    • Biomedical Science Letters
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    • v.25 no.2
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    • pp.190-195
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    • 2019
  • Hemoglobin (Hb) concentrations and hematocrit (Hct) values can be changed by factors such as erythrocyte production, destruction, and bleeding. In addition, variants in the protein expression involved in the amount of red blood cells that determine Hb metabolism or Hct value can increase susceptibility to complex blood diseases. Previous studies have reported significant single nucleotide polymorphisms (SNPs) by applying a genome-wide association study (GWAS) on Hb levels and Hct values in European population. In this study, we confirmed whether the significant SNPs are replicated in Koreans. In previous studies, 26 and 18 SNPs with a significant correlation Hb and Hct were identified in Korean genotype data, and 21 and 12 SNPs were selected, respectively. The SNPs of PRKCE (rs10495928), TMPRSS6 (rs2235321, rs5756505, rs855791) were significantly associated with Hb (P<0.05). In the association analysis of Hct, the SNPs of HBS1L (rs6920211, rs9389268, rs9483788), PRKCE (rs4953318), SCGN (rs9348689) and TMPRSS6 (rs2413450) genes showed a significant correlation (P<0.05). Replicated SNPs and not replicated SNPs showed the difference of genetic distance calculated by Fst. The replicated SNPs with a significant correlation showed similar allele frequencies, whereas the not replicated SNPs showed a large difference in allele frequency. All replicated SNPs with significant correlations had Fst values less than 0.05, indicating that the genetic distance between the groups was close. On the other hand, the not replicated SNPs showed that the Fst value was 0.05 or more and the genetic distance was relatively large.

Association of XPD and XRCC1 Genetic Polymorphisms with Hepatocellular Carcinoma Risk

  • Guo, Lian-Yi;Jin, Xu-Peng;Niu, Wei;Li, Xiao-Fei;Liu, Bao-Hai;Wang, Yu-Lin
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.9
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    • pp.4423-4426
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    • 2012
  • Aim: XRCC1 and XPD are two major repair genes involved in nucleotide excision repair (NER), which is reported to be associated with risk of several cancers. We explored the association of XRCC1 and XPD polymorphisms with the risk of HCC. Methods: A total of 410 cases with HCC and 410 health controls were collected. XRCC1 Arg194Trp, XRCC1 Arg399Gln, XPD Lys751Gln and XPD Asp312Asn genotyping was performed by duplex polymerase-chain-reaction with the confronting-two-pair primer (PCR-CTPP) method. Results: XRCC1 194Trp/Trp was strongly significantly associated with an increased risk of HCC cancer when compared with the wide-type genotype (OR=2.26, 95% CI=(1.23-5.38). Individuals carrying the XRCC1 399Gln/Gln showed increased risk of HCC (OR=1.74, 95%CI=1.06-2.74). The XPD 751Gln/Gln and Gln allele genotype were associated with strong elevated susceptibility to HCC (OR=3.51 and 1.42, respectively). Conclusion: These results suggest that polymorphisms in XRCC1 and XPD may have functional significance in risk of HCC.

Asthma and the Risk of Rheumatoid Arthritis: An Insight into the Heterogeneity and Phenotypes of Asthma

  • Rolfes, Mary Claire;Juhn, Young Jun;Wi, Chung-Il;Sheen, Youn Ho
    • Tuberculosis and Respiratory Diseases
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    • v.80 no.2
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    • pp.113-135
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    • 2017
  • Asthma is traditionally regarded as a chronic airway disease, and recent literature proves its heterogeneity, based on distinctive clusters or phenotypes of asthma. In defining such asthma clusters, the nature of comorbidity among patients with asthma is poorly understood, by assuming no causal relationship between asthma and other comorbid conditions, including both communicable and noncommunicable diseases. However, emerging evidence suggests that the status of asthma significantly affects the increased susceptibility of the patient to both communicable and noncommunicable diseases. Specifically, the impact of asthma on susceptibility to noncommunicable diseases such as chronic systemic inflammatory diseases (e.g., rheumatoid arthritis), may provide an important insight into asthma as a disease with systemic inflammatory features, a conceptual understanding between asthma and asthma-related comorbidity, and the potential implications on the therapeutic and preventive interventions for patients with asthma. This review discusses the currently under-recognized clinical and immunological phenotypes of asthma; specifically, a higher risk of developing a systemic inflammatory disease such as rheumatoid arthritis and their implications, on the conceptual understanding and management of asthma. Our discussion is divided into three parts: literature summary on the relationship between asthma and the risk of rheumatoid arthritis; potential mechanisms underlying the association; and implications on asthma management and research.

Null Glutathione S-transferase T1 and M1 Genotypes and Oral Cancer Susceptibility in China and India - a Meta-analysis

  • Peng, Jie;Liu, Hong-Zhou;Zhu, You-Jia
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.1
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    • pp.287-290
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    • 2014
  • Objective: Genetic variation is considered to strongly impact on detoxification of carcinogens and therefore is related to cancer risk. However, findings for the null genotypes of GSTT1 and GSTM1 have not always been consistent. Therefore the present meta-analysis was conducted. Methods: We accessed the reported study at different research areas and used various databases, including PubMed and Wanfang Med Onlion from 1990 to May 1st 2013. We calculated the odds ratio (OR), 95% confidence interval (CI) and P value for oral cancer by using Review Manager 5.1 and STATE 12. Results: We found that there was no increased oral cancer risk among subjects carrying GSTM1 and GSTT1 null genotype (OR=1.35, 95%CI=0.68-2.68, P=0.39) and (OR=1.41, 95%CI=0.72-2.77, P=0.31) in the Chinese population. In contrast, in studies in India a significant correlation between GSTM1 null genotype and oral cancer was observed (OR=1.59, 95%CI=1.20-2.11, P=0.001), but not in GSTT1 (OR=1.21, 95% CI=0.84-1.74, P=0.31). Conclusion: We discovered that GSTM1 deletion polymorphism had a significant effect on the susceptibility of oral cancer in the Indian population.