• Title/Summary/Keyword: Susceptibility marker

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Association Between p53 Arg72Pro Polymorphism and the Risk of Human Papillomavirus-related Head and Neck Squamous Cell Carcinoma: A Meta-analysis

  • Xia, Ling-Yun;Zeng, Xian-Tao;Li, Cheng;Leng, Wei-Dong;Fan, Ming-Wen
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.10
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    • pp.6127-6130
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    • 2013
  • This study aimed to investigate the association between p53 Arg72Pro polymorphism and the risk of human papillomavirus (HPV)-related head and neck squamous cell carcinoma (HNSCC) by conducting meta-analysis. The PubMed database was searched for relevant studies until May 30, 2013. Relevant studies were selected and data were extracted by two independent authors. Overall, subgroup, and sensitivity analyses were then conducted using the Comprehensive Meta-Analysis v2.2 software. Wild-genotype ArgArg was considered as reference [odds ratio (OR) = 1.00]. Nine studies involving 1071 HNSCC cases were obtained. Meta-analysis results indicated no association between p53 Arg72Pro polymorphism and the risk of HPV-related HNSCC: for Pro/Pro vs. Arg/Arg, OR = 1.17, 95% confidence interval (CI) = 0.70-1.98; for Arg/Pro vs. Arg/Arg, OR = 1.25, 95% CI = 0.97-1.72; and for (Pro/Pro + Arg/Pro) vs. Arg/Arg, OR = 1.28, 95% CI = 0.95-1.70. These meta-analysis results were supported by subgroup and sensitivity analysis results. In conclusions, p53 Arg72Pro polymorphism is a potential marker of HP infection-related HNSCC rather than a susceptibility gene polymorphism.

Genes and SNPs Associated with Non-hereditary and Hereditary Colorectal Cancer

  • Nassiri, Mohammadreza;Kooshyar, Mohammad Mahdi;Roudbar, Zahra;Mahdavi, Morteza;Doosti, Mohammad
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.10
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    • pp.5609-5614
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    • 2013
  • Background: Colorectal cancer is the third most common cancer in both men and women in the world and the second leading cause of cancer-related deaths. The incidence of colorectal cancer has increased in Iran in the past three decades and is now considered as a serious problem for our society. This cancer has two types hereditary and non-hereditary, 80% of cases being the latter. Considering that the relationship between SNPs with diseases is a concern, many researchers believed that they offer valuable markers for identifying genes responsible for susceptibility to common diseases. In some cases, they are direct causes of human disease. One SNP can increase risk of cancer, but when considering the rate of overlap and frequency of DNA repair pathways, it might be expected that SNP alone cannot affect the final result of cancer, although several SNPs together can exert a significant influence. Therefore identification of these SNPs is very important. The most important loci which include mutations are: MLH1, MSH2, PMS2, APC, MUTYH, SMAD7, STK11, $XRCC_3$, $DNMT_1$, MTHFR, Exo1, $XRCC_1$ and VDR. Presence of SNPs in these genes decreases or increases risk of colorectal cancer. Materials and Methods: In this article we reviewed the Genes and SNPs associated with non-hereditary and hereditary of colorectal cancer that recently were reported from candidate gene y, meta-analysis and GWAS studies. Results: As with other cancers, colorectal cancer is associated with SNPs in gene loci. Generally, by exploring SNPs, it is feasible to predict the risk of developing colorectal cancer and thus establishing proper preventive measures. Conclusions: SNPs of genes associated with colorectal cancer can be used as a marker SNP panel as a potential tool for improving cancer diagnosis and treatment planning.

Relationships between Malignant Melanoma and Chromosome Damage in Human Peripheral Blood Lymphocytes

  • Narin, Abdullah;Tuncay, Orta
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.10
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    • pp.5229-5232
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    • 2012
  • The incidence of malignant melanoma increases with age. One significiant effect of aging processes is an accumulation of oxidative damage in the genetical material. In this study, the relationship between malignant melanoma and damage in chromosomes and proliferative effectiveness of human peripheral lymphocytes were investigated by the micronucleus (MN) technique. A total of 15 malignant melanoma patients and appropriately matching 15 healthy controls were involved in the study. MN frequencies and proliferative indexes (PI) after non toxic levels of hydrogen peroxide treatment were also measured to determine damaging effect of oxidative stress in genome in addition to measuring the spontenous levels of micronuclei and PI. The patient group had a significantly higher rate of spontaneous MN than the control group (p<0.01). After treatment with $H_2O_2$, MN frequencies in the patient group was significantly decreased (p<0.01) although there was no difference between the treated and untreated results of control group (p=0.29). There was also difference (p<0.01) between the MN frequencies of the patient and the control group either in the spontaneous levels or in the $H_2O_2$ treated groups. The same significant difference persisted when the PI values were compared between patient and control groups. Increase in the MN frequency in patients could mean the alterations in the chromosomal structure which may lead to the chromosome instability and therefore genetic susceptibility to cancer. This increased number of micronuclei can also be used for cytological marker in identifying high risk cases for malignant melanoma.

Identification of Novel Mutations In Adenosine Deaminase Gene In Korean Leukemia Patients (한국인 백혈병 환자에서 아데노신 디아미나제 유전자의 새로운 변이의 확인)

  • Park, Ki-Ho
    • Journal of Life Science
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    • v.20 no.3
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    • pp.453-456
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    • 2010
  • Leukemia is the abnormal increase of hematopoietic progenitor cells in tissues, resulting in anemia, increased susceptibility to infection and impaired blood clotting. The adenosine deaminase (ADA) gene is an important druggable target for the treatment of leukemia patients. Genetic and molecular analyses were performed to determine the effects of ADA gene mutations in 20 leukemia patients in the Korean population. To analyze the relationship between genotype and phenotype, the ADA genomic DNAs - including 1,092 bp of 12 exons and partial intron sequences flanking each exon - were sequenced and compared. In this study, the known mutations in other diseases, more than 50 mutations already reported in patients with severe combined immunodeficiency disease (SCID) and autism, were not found, but two novel mutations in leukemia patients were discovered. They include one nonsense mutation (A>C at nt position 478, F101F) and one missense mutation (G>A at nt position 778, E260K). One missense mutation (G>A at nt position 22, D8Y) was also detected in 20 normal control patients (allelic frequency of 7.5%). Interestingly, subjects in the Korean population retained 2 bp insertion at the intron 6 (IVS6-52insGC), something that has never been shown in other populations. The genetic study to find out the correlation between the mutant alleles and leukemia patients revealed no association statistically (p>0.05). The mutation found in leukemia needs further study to determine its possibility as a molecular marker for the diagnosis of leukemia.

Decrease in Genetic Variation of Overwintering Populations of the Diamondback Moth during Seasonal Occurrence (배추좀나방의 계절적 발생과 월동집단의 유전적 분화 감소)

  • Kim, Eunseong;Park, Areum;Park, Youngjin;Kim, Jooil;Kim, Yonggyun
    • Korean journal of applied entomology
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    • v.54 no.4
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    • pp.303-310
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    • 2015
  • The diamondback moth, Plutella xylostella, overwinters in some protected areas in Korea. Using a sex pheromone trap, the adults were monitored since the occurrence of the overwintering populations. In Andong, P. xylostella exhibited four adult peaks in a year. Biological characters, such as cold tolerance, insecticide susceptibility, and developmental rate, were analyzed and showed a significant variation among different local overwintering populations. Population genetic variation was assessed with molecular markers, in which the initial high genetic variation among the overwintering populations decreased with the progress of seasons. These results suggests that there may be a significant migration of P. xylostella to decrease the genetic variation among the different local populations that are different in biological characters.

Association Study between Tic Disorder and Dopamine D2 Receptor Gene Polymorphism in Korean Population (틱장애와 도파민 D2 수용체 유전자와의 연합 연구)

  • Lee, Soyoung Irene;Cho, In Hee;Kim, Seon Mee;Lee, Min-Soo;Jung, Han-Yong
    • Korean Journal of Biological Psychiatry
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    • v.13 no.4
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    • pp.299-304
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    • 2006
  • Objectives : The purpose of the present study was to investigate whether the TaqI A polymorphism of dopamine receptor D2 gene(DRD2) is associated with Tourette syndrome(TS) and chronic motor tic disorder(CMT) in Korean population. Methods : DRD2 TaqI A RFLP genotyping was carried out with DNA extracted from blood samples of 75 patients with tic disorders(47 with TS and 28 with CMT) and 90 healthy subjects. Genotype and allelic frequencies for the DRD2 gene polymorphisms of the tic disorder group as a whole were compared to those of the control group. Separating the TS group, thereafter, the frequency of genotypes and alleles were compared to those of the controls. Results : The results demonstrated that genotype and allele distributions for the DRD2 gene polymorphism in the tic disorder as a whole, TS, and control groups were not significantly different. Conclusion : No association was found for DRD2 gene, TS and CMT. The data suggest that DRD2 gene may not be a useful marker for the prediction of the susceptibility of tic disorder.

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Genetic Variations of ABCC2 Gene Associated with Adverse Drug Reactions to Valproic Acid in Korean Epileptic Patients

  • Yi, Ji Hyun;Cho, Yang-Je;Kim, Won-Joo;Lee, Min Goo;Lee, Ji Hyun
    • Genomics & Informatics
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    • v.11 no.4
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    • pp.254-262
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    • 2013
  • The multidrug resistance protein 2 (MRP2, ABCC2) gene may determine individual susceptibility to adverse drug reactions (ADRs) in the central nervous system (CNS) by limiting brain access of antiepileptic drugs, especially valproic acid (VPA). Our objective was to investigate the effect of ABCC2 polymorphisms on ADRs caused by VPA in Korean epileptic patients. We examined the association of ABCC2 single-nucleotide polymorphisms and haplotype frequencies with VPA related to adverse reactions. In addition, the association of the polymorphisms with the risk of VPA related to adverse reactions was estimated by logistic regression analysis. A total of 41 (24.4%) patients had shown VPA-related adverse reactions in CNS, and the most frequent symptom was tremor (78.0%). The patients with CNS ADRs were more likely to have the G allele (79.3% vs. 62.7%, p=0.0057) and the GG genotype (61.0% vs. 39.7%, p=0.019) at the g.-1774delG locus. The frequency of the haplotype containing g.-1774Gdel was significantly lower in the patients with CNS ADRs than without CNS ADRs (15.8% vs. 32.3%, p=0.0039). Lastly, in the multivariate logistic regression analysis, the presence of the GG genotype at the g.-1774delG locus was identified as a stronger risk factor for VPA related to ADRs (odds ratio, 8.53; 95% confidence interval, 1.04 to 70.17). We demonstrated that ABCC2 polymorphisms may influence VPA-related ADRs. The results above suggest the possible usefulness of ABCC2 gene polymorphisms as a marker for predicting response to VPA-related ADRs.

Development of dry milling suitable rice cultivar to invigorate rice processing products

  • Jeung, Ji-Ung
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2017.06a
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    • pp.10-10
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    • 2017
  • Rice consumption has been continuously decreasing as the eating habits of Koreans have become westernized and diversified. The per capita annual rice consumption in Korea has dropped sharply from 136.4 kg in 1970 to 61.9 kg in 2016. The Korean government, therefore, has been trying to promote rice consumption by invigorating the processed food industry using rice flour. To facilitate the market for processed rice foods, it is essential to develop proper milling technology in terms of flour particle size and damaged starch content to produce high quality rice flour at competitive cost. Dry milling and wet milling are the two major processes used to produce rice flour. Although the dry milling process is relatively simple with a lower production cost, damaged starch content increases because of the high grain hardness of rice. In wet milling, the quality of rice flour is improved by reducing flour particle size as well as damaged starch content through soaking procedures. However, the production costs are high because of the additional expenses associated with the disposal of waste water, sterilization and drying of the wet flour. Recently developed technologies such as jet milling and cryogenic milling also require expensive investment and production. Therefore, developing new rice cultivars with dry milling adaptability as well as good processing properties is an important goal of rice breeding in Korea. 'Suweon 542' is a floury endosperm mutant line derived from sodium azide treatment on a high-yield, early maturing, and non-glutinous japonica rice cultivar, 'Namil'. Compared with the wild type, after dry milling process, the grain hardness of 'Suweon 542' was significantly lower because of its round and loosely packed starch granules. Also, the flour of 'Suweon 542' had significantly smaller particles and less damaged starch than 'Namil' and other rice cultivars and its particle size distribution was similar to a commercial wheat cultivar. Recently, through collaborations with nine universities and food companies, a total of 21 kinds of processed prototypes, using the dry milling flour of 'Suweon 542', were evaluated. In the production of major rice processing products, there was no significant quality difference between the flours prepared by wet milling and dry milling. Although the amount of water added to the dough was slightly increased, it was confirmed that the recipe applying the wet flour could be used without significant change. To efficiently transfer the floury endosperm characteristics of 'Suweon 542' to other commercial rice cultivars, it is essential to develop DNA marker tightly linked to the target gene. Association analysis using 70 genome-wide SSR markers and 94 F2 plants derived from 'Suweon 542'/'Milyang 23' showed that markers on chromosome 5 explained a large portion of the variation in floury grains percentage (FGP). Further analysis with an increased number of SSR markers revealed that the floury endosperm of 'Suweon 542' was directed by a major recessive locus, flo7(t), located in the 19.33-19.86 Mbp region of chromosome 5, with RM18639 explaining 92.2% of FGP variation in the F2 population. Through further physical mapping, a co-segregate and co-dominant DNA marker with the locus, flo7(t) was successfully developed, by which, thereby, breeding efficiency of rice cultivars having proper dry milling adaptability with high yield potential or useful functional materials would be improved. 'Suweon 542' maintained the early maturity of the wild type, Namil, which can be used in rice-wheat double cropping systems in Korea not only for improved arable land but also for sharing flour production facilities. In addition to the high susceptibility against major rice diseases, nevertheless, another possible drawback of 'Suweon 542' is the high rate of viviparous under prolonged rainfall during the harvesting season. To overcome susceptibility and vivipary of 'Suweon 542', the progeny lines, derived from the crosses 'Suweon 542' and 'Jopyeong', an early maturing rice cultivar with multiple resistance against rice blast, bacterial blight, and rice strip virus, and 'Heugjinju', a anthocyanin pigment containing black rice cultivar, were intensively evaluated. As the outputs, three dry milling suitable rice elite lines, 'Jeonju614', 'Jeonju615', and 'Jeonju616' were developed.

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Clinical Utility of Prominent Hypointense Signals in the Draining Veins on Susceptibility-Weighted Imaging in Acute Cerebral Infarct: As a Marker of Penumbra and a Predictor of Prognosis (급성 뇌경색에서 자화율강조영상에서 보이는 현저한 유출정맥 저신호 강도의 임상적 유용성: Penumbra 및 예후 예측인자로서 가능성)

  • Lee, Hyun Sil;Ahn, Kook Jin;Choi, Hyun Seok;Jang, Jin Hee;Jung, So Lyung;Kim, Bum Soo;Yang, Dong Won
    • Investigative Magnetic Resonance Imaging
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    • v.18 no.4
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    • pp.332-340
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    • 2014
  • Purpose : A relative increase in deoxyhemoglobin levels in hypoperfused tissue can cause prominent hypointense signals in the draining veins (PHSV) within areas of impaired perfusion in susceptibility-weighted imaging (SWI). The purpose of this study is to evaluate the usefulness of SWI in patients with acute cerebral infarction by evaluating PHSV within areas of impaired perfusion and to investigate the usefulness of PHSV in predicting prognosis of cerebral infarction. Materials and Methods: In 18 patients with acute cerebral infarction who underwent brain MRI with diffusion-weighted imaging and SWI and follow-up brain MRI or CT, we reviewed the presence and location of the PHSV within and adjacent to areas of cerebral infarction qualitatively and measured the signal intensity difference ratio of PHSVs to contralateral normal appearing cortical veins quantitatively on SWI. The relationship between the presence of the PHSV and the change in the extent of infarction in follow-up images was analyzed. Results: Of the 18 patients, 10 patients showed progression of the infarction, and 8 patients showed little change on follow- up imaging. On SWI, of the 10 patients with progression 9 patients showed peripheral PHSV and the newly developed infarctions corresponded well to area with peripheral PHSV on initial SWI. Only one patient without peripheral PHSV showed progression of the infarct. The patients with infarction progression revealed significantly higher presence of peripheral PHSV (p=0.0001) and higher mean signal intensity difference ratio (p=0.006) comparing to the patients with little change. Conclusion: SWI can demonstrate a peripheral PHSV as a marker of penumbra and with this finding we can predict the prognosis of acute infarction. The signal intensity difference of PHSV to brain tissue on SWI can be used in predicting prognosis of acute cerebral infarction.

Mono-Rifampicin-Resistant Pulmonary Tuberculosis (Rifampicin단독내성 폐결핵)

  • Shim, Tae-Sun;Lee, Ki-Man;Lim, Chae-Man;Lee, Sang-Do;Koh, Youn-Suck;Kim, Woo-Sung;Kim, Dong-Soon;Kim, Won-Dong
    • Tuberculosis and Respiratory Diseases
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    • v.46 no.5
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    • pp.618-627
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    • 1999
  • Background : Rifampicin (RFP) is a key component of the antituberculous short-course chemotherapy. Usually the RFP resistant M.tuberculosis is also resistant to isoniazid (INH), so the RFP resistance is the marker of multi-drug resistant (MDR) tuberculosis. But unusual cases of mono-RFP-resistant tuberculosis have been recently reported with increasing frequency, especially associated with HIV infection in western countries. Therefore, we conducted a retrospective study to investigate the frequency, causes, and the clinical characteristics of mono-RFP-resistant tuberculosis in Korea. Methods : Of the bacteriologically confirmed and susceptibility-proven 699 pulmonary tuberculosis patients (921 isolates) who visited Asan Medical Center from January 1990 to August 1997, eighteen patients with INH-susceptible and RFP-resistant tuberculosis were evaluated. Previous history of tuberculosis, antituberculous drug compliances, associated systemic illness, drug susceptibility patterns, and clinical outcomes were analysed. And rpoB gene sequencing was done in 6 clinical isolates of M. tuberculosis. Results : The mean age of 18 patients was $43{\pm}14$ years, and the sex ratio is 12:6 (M : F). Sixteen (89%) patients had previous history of tuberculosis. None had diagnosed gastrointestinal disorders, and 2 HIV tests that were performed came out negative. Susceptibility tests were done repeatedly in eleven patients, and six (55%) were mono-RFP resistant repeatedly while five (45%) evolved to MDR tuberculosis. Eight (44%) patients were cured, six (33%) failed, three (17%) were lost to follow-up, and the other one is now on treatment. rpoB gene sequencing showed 5 mutations, codon 531 TCG to TIG mutation in 4 isolates and 526 CAC to TAC in 1 isolate. Conclusion : The clinical characteristics of mono-RFP resistant tuberculosis were similar to that of MDR tuberculosis in Korea where the HIV infection rate is lower than western countries. But some patients with mono-RFP-resistant tuberculous could be cured by primary drug regimens including RFP, suggesting that mono-RFP-resistant tuberculous is a different entity from MDR tuberculosis.

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