• Title/Summary/Keyword: A/B gene polymorphism

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Interleukin-6-174 Promoter Polymorphism and Susceptibility to Hepatitis B Virus Infection as a Risk Factor for Hepatocellular Carcinoma in Iran

  • Attar, Marzieh;Azar, Saleh Shahbazi;Shahbazi, Majid
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.5
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    • pp.2395-2399
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    • 2016
  • Background: Hepatitis B virus (HBV) is a major risk factor for hepatocellular carcinoma (HCC). Cytokines play an important role in the regulation of immune responses and defense against viral infections. Human interleukin 6 (IL6) is a multifunctional cytokine that participates in these processes. Objective: The aim of this study was to assess the IL6-174 gene polymorphism in patients with chronic hepatitis B virus (HBV) infection as compared with healthy controls in an Iranian population. Materials and Methods: Totals of 297 HBV patients and 368 control individuals were evaluated. Genomic DNA was extracted from peripheral blood and the SSP-PCR (sequence specific primer-polymerase chain reaction) method was applied for genotyping. Results: The frequencies of genotypes C/C, G/G and C/G in HBV cases were 4.7%, 34.3%, 60.9% and in controls were 12.8%, 39.7% and 47.6%, respectively. The frequencies of G and C allele in patients and controls were 78.1%, 21.9% and 67.4%, 32.6 % respectively. There was a significant difference in the frequencies of G/G genotype (CI=1.8-7.1, OR=3.47, P=0.00001) and G allele (CI=1.34-2.23, OR=1.72, P=0.0001) between HBV patients and the control group. Conclusions: These findings suggest that the IL6-174 C/G genotype and the G allele are strongly associated with susceptibility to HBV infection. Demographic information showed that most of the subjects were male (74.4%). According to high frequency of G/G genotype in male participants (63.1%) men probably are more susceptible to hepatitis than women.

Cluster Analysis of SNPs with Entropy Distance and Prediction of Asthma Type Using SVM (엔트로피 거리와 SVM를 이용한 SNP 군집분석과 천식 유형 예측)

  • Lee, Jung-Seob;Shin, Ki-Seob;Wee, Kyu-Bum
    • The KIPS Transactions:PartB
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    • v.18B no.2
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    • pp.67-72
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    • 2011
  • Single nucleotide polymorphisms (SNPs) are a very important tool for the study of human genome structure. Cluster analysis of the large amount of gene expression data is useful for identifying biologically relevant groups of genes and for generating networks of gene-gene interactions. In this paper we compared the clusters of SNPs within asthma group and normal control group obtained by using hierarchical cluster analysis method with entropy distance. It appears that the 5-cluster collections of the two groups are significantly different. We searched the best set of SNPs that are useful for diagnosing the two types of asthma using representative SNPs of the clusters of the asthma group. Here support vector machines are used to evaluate the prediction accuracy of the selected combinations. The best combination model turns out to be the five-locus SNPs including one on the gene ALOX12 and their accuracy in predicting aspirin tolerant asthma disease risk among asthmatic patients is 66.41%.

Genetic polymorphisms of monoamine oxidase(MAO) B and serotonin transporter receptor(5-HTTR) influence variability in neurobehavioral symptoms by n-hexane exposur (n-Hexane 노출에 의한 신경행동학적 증상에 monoamine oxidase(B)와 serotonin transporter receptor 유전자다양성의 영향)

  • Kim, Ki-Woong
    • Journal of Korean Society of Occupational and Environmental Hygiene
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    • v.21 no.2
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    • pp.116-122
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    • 2011
  • Human occupational exposure to n-hexane has been associated with neurobehavioral symptoms such as depression, irritablity, acute irritation symptom, concentration disturbance and fatigue. Effects of monoamine oxidase (MAO) B and serotonin transporter receptor (5-HTTR) polymorphisms on the neurobehavioral symptoms were investigated in 70 male workers from TV and computer monitor manufacturing plants exposed to n-hexane. Neurobehavioral symptoms were assessed through a self-reported questionnaire and ambient level of n-hexane was measured by NIOSH method. Blood and urine were collected from each workers to determine the MAO(B), 5-HTTR and urinary 2,5-hexanedione(2,5-HD). The mean concentration of volatile n-hexane was $18.8{\pm}28.8ppm$ and that of urinary 2,5-HD was $1.07{\pm}1.47mg/g$ creatinine. Statistically significant associations with sexual disturbance were age and smoking. The frequencies of MAO(B) AA, AG and GG were 18.6%, 45.7% and 35.7%, respectively, and the frequencies of 5-HTTR ll, ls and ss genotype were 82.9%, 15.7% and 1.4%, respectively. MAO (B) gene polymorphisms had susceptibility to the neurobehavioral symptoms such as fatigue, concentration disturbance, irritability and acute irritation symptom and 5-HTTR gene polymorphism had susceptibility to the sleep disturbance and acute irritation symptom. On multiple logistic regression analysis for the neurobehavioral symptoms, memory disturbance was significantly associated with smoking(OR=6.752, 95% CI=37.46) and drinking(OR=4.033, 95% CI=1.252-12.98), emotional lability was MAO(B) genotype(OR=0.412, 95% CI=0.170-0.996), fatigue (OR=1.011, 95% CI=1.000-1.021) and acute irritation(OR=0.990, 95% CI=0.981-1.000) were working duration and sexual disturbance were significantly associated with age(OR=1.208, 95% CI=1.042-1.399), ambient n-hexane(OR=1.077, 95% CI=1.005-1.154) and 2,5-HD(OR=0.186, 95% CI=0.041-0.841). This finding implies that the MAO (B) and 5-HTTR polymorphisms may affect susceptibility for specific neurobehavioral symptoms associated with n-hexane exposure in workers.

Effects of a Porcine MC4R Polymorphism(892G>A) on Carcass Traits in Commercial Pigs (돼지 MC4R 유전자 892G>A 다형성이 비육돈의 도체형질에 미치는 영향)

  • Han, S.H.;Lee, S.S.;Ko, M.S.;Seong, P.N.;Park, B.Y.;Cho, I.C.
    • Journal of Animal Science and Technology
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    • v.49 no.5
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    • pp.569-576
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    • 2007
  • receptor(MC4R) gene and carcass traits was examined in randomly selected commercial pigs. A porcine MC4R gene was genotyped for Asp298Asn(nt. 892G>A) by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). A total of three genotypes, A/A, A/G, and G/G, were found with 28.8, 22.8, and 48.4% frequencies, respectively. In the whole population, pigs containing 892A/- showed significantly higher marbling score than those of homozygotes G/G(P<0.05). Two homozygotes, A/A and G/G showed lower in meat color score but higher in water holding capacity than those of heterozygotes A/G(P<0.01). However, the carcass weight of the barrows containing wild type -/G was significantly higher(i.e. more than 2.5kg) than those of homozygotes A/A(P<0.05). The effects of each genotype on carcass traits in the gilts were similar to those of the whole population, but not in barrows, suggesting an unknown sex-related effect on carcass traits. This study suggested that the genotype MC4R A/- could improve the meat quality in the commercial pig production. However, since the genetic polymorphism of MC4R gene differentially affected the carcass traits in sex-related manner, therefore, both parameters, the sex and genotype, should be considered for marker-assisted selection in commercial pig production.

Genomic Analyses of Toll-like Receptor 4 and 7 Exons of Bos indicus from Temperate Sub-himalayan Region of India

  • Malik, Y.P.S.;Chakravarti, S.;Sharma, K.;Vaid, N.;Rajak, K.K.;Balamurugan, V.;Biswas, S.K.;Mondal, B.;Kataria, R.S.;Singh, R.K.
    • Asian-Australasian Journal of Animal Sciences
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    • v.24 no.7
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    • pp.1019-1025
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    • 2011
  • Toll-like receptors (TLRs) play an important role in the recognition of invading pathogens and the modulation of innate immune responses in mammals. The TLR4 and TLR7 are well known to recognize the bacterial lipopolysaccharide (LPS) and single stranded (ssRNA) ligands, respectively and play important role in host defense against Gram-negative bacteria and ssRNA viruses. In the present study, coding exon fragments of these two TLRs were identified, cloned, sequenced and analyzed in terms of insertion-deletion polymorphism, within bovine TLRs 4 and 7, thereby facilitating future TLR signaling and association studies relevant to bovine innate immunity. Comparative sequence analysis of TLR 4 exons revealed that this gene is more variable, particularly the coding frame (E3P1), while other parts showed percent identity of 95.7% to 100% at nucleotide and amino acid level, respectivley with other Bos indicus and Bos taurus breeds from different parts of the world. In comparison to TLR4, sequence analysis of TLR7 showed more conservation among different B. indicus and B. taurus breeds, except single point mutation at 324 nucleotide position (AAA to AAM) altering a single amino acid at 108 position (K to X). Percent identity of TLR7 sequences (all 3 exons) was between 99.2% to 100% at nucleotide and amino acid level, when compared with available sequence database of B. indicus and B. taurus. Simple Modular Architecture Research Tool (SMART) analysis showed variations in the exon fragments located in the Leucine Rich Repeat (LRR) region, which is responsible for binding with the microbial associated molecular patterns and further, downstream signaling to initiate anti-microbial response. Considering importance of TLR polymorphism in terms of innate immunity, further research is warranted.

Association Between Three eNOS Polymorphisms and Cancer Risk: a Meta-analysis

  • Wu, Xun;Wang, Zhi-Feng;Xu, Yin;Ren, Rui;Heng, Bao-Li;Su, Ze-Xuan
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.13
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    • pp.5317-5324
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    • 2014
  • Polymorphisms in the endothelial nitric oxide synthase (eNOS) gene may influence the risk of cancer, but the results are still debatable. Therefore, we performed a systematic review to provide a more complete picture and conducted a meta-analysis to derive a precise estimation. We searched PubMed, EMBASE, EBSCO, Google Scholar and China National Knowledge Infrastructure (CNKI) databases until April 2014 to identify eligible studies. Thirty-one studies with cancer patients and controls were included in the meta-analysis. Overall, the polled analysis revealed that the T-786C polymorphism was significantly associated with increased cancer risk under multiple genetic models (C vs T: OR=1.135, 95%CI=1.048-1.228; CC vs TT: OR=1.278, 95%CI=1.045-1.562; TC vsTT: OR=1.136, 95%CI=1.023-1.261; CC+TC vs TT: OR=1.159, 95%CI=1.047-1.281; CC vs TC+TT: OR=1.204, 95%CI= 1.003-1.447). G894T was associated with significant risk for females (TT vs GG: OR=1.414, 95%CI=1.056-1.892; TT vs GT+GG: OR=1.356, 95%CI=1.108-1.661) and for breast cancer (T vs G: OR=1.097, 95%CI=1.001-1.203; TT vs GG: OR=1.346, 95%CI=1.012-1.789; TT vs GT+GG: OR=1.269, 95%CI=1.028-1.566). Increased susceptibility was revealed for prostate cancer with 4a/b (ba vs bb: OR=1.338, 95%CI=1.013-1.768; aa+ba vs bb: OR=1.474, 95%CI=1.002-2.170). This meta-analysis indicated that the eNOS T-786C polymorphism is associated with elevated cancer risk; the G894T polymorphism contributes to susceptibility to breast cancer and cancer generally in females; and the 4a/b polymorphism may be associated with prostate cancer risk.

Molecular Analysis of Botrytis cinerea Causing Ginseng Grey Mold Resistant to Carbendazim and the Mixture of Carbendazin Plus Diethofencarb

  • Kim, Joo-Hyung;Min, Ji-Young;Bae, Young-Seok;Kim, Heung-Tae
    • The Plant Pathology Journal
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    • v.25 no.4
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    • pp.322-327
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    • 2009
  • A total of 23 isolates of Botrytis cinerea causing the grey mold were collected from infected ginseng in several fields of Korea. The sensitivity to carbendazim and the mixture of carbendazim plus diethofencarb was determined through a mycelial inhibition test on PDA amended with or without fungicides. B. cinerea isolates were classified as 3 phenotypes, which were the first phenotype resistant to both of carbendazim and the mixture ($Car^RMix^R$), the second one resistant to carbendazim and sensitive to the mixture ($Car^RMix^S$), and the last one sensitive to both of them ($Car^RMix^S$). Carbendazim resistance correlated with a single mutation $\beta$-tubulin gene of B. cinerea amplified with primer pair tubkjhL and tubkjhR causing a change of glutamate to alanine at amino acid position 198. Furthermore, the substitution of valine for glutamate led the resistance to carbendazim and the mixture at the same position of amino acid. PCR-restriction fragment length polymorphism (PCR-RFLP) analysis using the restriction endonuclease, Tsp451 and BstUI allowed differentiation of the PCR fragment of $\beta$-tubulin gene of $Car^SMix^S$ isolates from that of $Car^RMix^R$ and $Car^RMix^S$ isolates. This method will aid in a fast detection of resistance of carbendazim and the mixture of carbendazim plus diethofencarb in B. cinerea in ginseng field.

Interleukin-10 Polymorphisms in Association with Prognosis in Patients with B-Cell Lymphoma Treated by R-CHOP

  • Kim, Min Kyeong;Yoo, Kyong-Ah;Park, Eun Young;Joo, Jungnam;Lee, Eun Young;Eom, Hyeon-Seok;Kong, Sun-Young
    • Genomics & Informatics
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    • v.14 no.4
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    • pp.205-210
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    • 2016
  • Interleukin-10 (IL10) plays an important role in initiating and maintaining an appropriate immune response to non-Hodgkin lymphoma (NHL). Previous studies have revealed that the transcription of IL10 mRNA and its protein expression may be infl uenced by several single-nucleotide polymorphisms in the promoter and intron regions, including rs1800896, rs1800871, and rs1800872. However, the impact of polymorphisms of the IL10 gene on NHL prognosis has not been fully elucidated. Here, we investigated the association between IL10 polymorphisms and NHL prognosis. This study involved 112 NHL patients treated at the National Cancer Center, Korea. The median age was 57 years, and 70 patients (62.5%) were men. Clinical characteristics, including age, performance status, stage, and extra-nodal involvement, as well as cell lineage and International Prognostic Index (IPI), were evaluated. A total of four polymorphisms in IL10 with heterozygous alleles were analyzed for hazard ratios of overall survival (OS) and progression-free survival (PFS) using Cox proportional hazards regression analysis. Diffuse large B-cell lymphoma was the most common histologic type (n = 83), followed by T-cell lymphoma (n = 18), mantle cell lymphoma (n = 6), and others (n = 5). Cell lineage, IPI, and extra-nodal involvement were predictors of prognosis. In the additive genetic model results for each IL10 polymorphism, the rs1800871 and rs1800872 polymorphisms represented a marginal association with OS (p = 0.09 and p = 0.06) and PFS (p = 0.05 and p = 0.08) in B-cell lymphoma patients treated with rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP). These findings suggest that IL10 polymorphisms might be prognostic indicators for patients with B-cell NHL treated with R-CHOP.

RAPD Polymorphism and Genetic Distance among Phenotypic Variants of Tamarindus indica

  • Mayavel, A;Vikashini, B;Bhuvanam, S;Shanthi, A;Kamalakannan, R;Kim, Ki-Won;Kang, Kyu-Suk
    • Journal of Korean Society of Forest Science
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    • v.109 no.4
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    • pp.421-428
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    • 2020
  • Tamarind (Tamarindus indica L.) is one of the multipurpose tree species distributed in the tropical and sub-tropical climates. It is an important fruit yielding tree that supports the livelihood and has high social and cultural values for rural communities. The vegetative, reproductive, qualitative, and quantitative traits of tamarind vary widely. Characterization of phenotypic and genetic structure is essential for the selection of suitable accessions for sustainable cultivation and conservation. This study aimedto examine the genetic relationship among the collected accessions of sweet, red, and sour tamarind by using Random Amplified Polymorphic DNA (RAPD) primers. Nine accessions were collected from germplasm gene banks and subjected to marker analysis. Fifteen highly polymorphic primers generated a total of 169 fragments, out of which 138 bands were polymorphic. The polymorphic information content of RAPD markers varied from 0.10 to 0.44, and the Jaccard's similarity coefficient values ranged from 0.37 to 0.70. The genetic clustering showed a sizable genetic variation in the tamarind accessions at the molecular level. The molecular and biochemical variations in the selected accessions are very important for developing varieties with high sugar, anthocyanin, and acidity traits in the ongoing tamarind improvement program.

Genotypic Characterization of Cherry Witches' Broom Pathogen Taphrina wiesneri Strains (벚나무 빗자루병균 Taphrina wiesneri의 유전적 특성)

  • Seo, Sang-Tae;Jeong, Su-Jee;Lee, Seung-Kyu;Kim, Kyung-Hee
    • Research in Plant Disease
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    • v.17 no.1
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    • pp.99-101
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    • 2011
  • The ascomycetous fungus Taphrina wiesneri, the pathogen of cherry witches' broom, is highly pathogenic to Prunus yedoensis, the most widely planted cherry trees in Korea as park and roadside trees. A collection of 13 strains of the pathogen in Korea and Japan was characterized by 18S rDNA gene sequence and restriction fragment length polymorphism (RFLP) analysis. In cluster analysis based on 18S rDNA gene sequence the strains were divided into 2 clusters. In RFLP analysis of the rDNA-IGS region using HhaI, the strains were separated into four patterns, B, C, D and G, of which pattern G was new.