• Title/Summary/Keyword: Gene Associations

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DNA Polymorphisms in SREBF1 and FASN Genes Affect Fatty Acid Composition in Korean Cattle (Hanwoo)

  • Bhuiyan, M.S.A.;Yu, S.L.;Jeon, J.T.;Yoon, D.;Cho, Y.M.;Park, E.W.;Kim, N.K.;Kim, K.S.;Lee, J.H.
    • Asian-Australasian Journal of Animal Sciences
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    • v.22 no.6
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    • pp.765-773
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    • 2009
  • Sterol regulatory element binding factor 1 (SREBF1) and fatty acid synthase (FASN) genes play an important role in the biosynthesis of fatty acids and cholesterol, and in lipid metabolism. This study used polymorphisms in the intron 5 of bovine SREBF1 and in the thioesterase (TE) domain of FASN genes to evaluate their associations with beef fatty acid composition. A previously identified 84-bp indel (L: insertion/long type and S: deletion/short type) of the SREBF1 gene in Korean cattle had significant associations with the concentration of stearic (C18:0), linoleic (C18:2) and polyunsaturated fatty acids (PUFA). The stearic acid concentration was 6.30% lower in the SS than the LL genotype (p<0.05), but the linoleic and PUFA contents were 11.06% and 12.20% higher in SS compared to LL (p<0.05). Based on the sequence analysis, five single nucleotide polymorphisms (SNPs) g.17924G>A, g.18043C>T, g.18440G>A, g.18529G>A and g.18663C>T in the TE domain of the FASN gene were identified among the different cattle breeds studied. Among these, only g.17924 G>A and g.18663C>T SNPs were segregating in the Hanwoo population. The g.17924G>A SNP is a non-synonymous mutation (thr2264ala) and was significantly associated with the contents of palmitic (C16:0) and oleic acid (C18:1). The oleic acid concentration was 3.18% and 2.79% higher in Hanwoo with the GG genotype than the AA and AG genotypes, respectively (p<0.05), whereas the GG genotype had 3.8% and 4.01% lower palmitic acid than in those cattle with genotype AA and AG, respectively (p<0.05). Tissue expression data showed that SREBFI and FASN genes were expressed in a variety of tissues though they were expressed preferentially in different muscle tissues. In conclusion, the 84-bp indel of SREBF1 and g.17924G>A SNP of the FASN gene can be used as DNA markers to select Hanwoo breeding stock for fatty acid composition.

TERT rs2736098 Polymorphism and Cancer Risk: Results of a Meta-analysis

  • Qi, Hao-Yu;Zou, Peng;Zhao, Lin;Zhu, Jue;Gu, Ai-Hua
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.7
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    • pp.3483-3488
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    • 2012
  • Objective: Several studies have demonstrated associations between the TERT rs2736098 single nucleotide polymorphisms (SNPs) and susceptibility to cancer development. However, there are conflicting results. A systematic meta-analysis was therefore performed to establish the cancer risk associated with the polymorphism. Methods: In this meta-analysis, a total of 6 case-control studies, including 5,567 cases and 6,191 controls, were included. Crude odds ratios with 95% confidence intervals were used to assess the strength of associations in several genetic models. Results: Our results showed no association reaching the level of statistical significance for overall risk. Interestingly, in the stratified analyses (subdivided by ethnicity), significantly increased risks were found in the Asian subgroup which indicates the TERT rs2736098 polymorphism may have controversial involvement in cancer susceptibility. Conclusions: Overall, this meta-analysis indicates that the TERT rs2736098 polymorphism may have little involvement in cancer susceptibility.

Systems pharmacology approaches in herbal medicine research: a brief review

  • Lee, Myunggyo;Shin, Hyejin;Park, Musun;Kim, Aeyung;Cha, Seongwon;Lee, Haeseung
    • BMB Reports
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    • v.55 no.9
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    • pp.417-428
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    • 2022
  • Herbal medicine, a multi-component treatment, has been extensively practiced for treating various symptoms and diseases. However, its molecular mechanism of action on the human body is unknown, which impedes the development and application of herbal medicine. To address this, recent studies are increasingly adopting systems pharmacology, which interprets pharmacological effects of drugs from consequences of the interaction networks that drugs might have. Most conventional network-based approaches collect associations of herb-compound, compound-target, and target-disease from individual databases, respectively, and construct an integrated network of herb-compound-target-disease to study the complex mechanisms underlying herbal treatment. More recently, rapid advances in high-throughput omics technology have led numerous studies to exploring gene expression profiles induced by herbal treatments to elicit information on direct associations between herbs and genes at the genome-wide scale. In this review, we summarize key databases and computational methods utilized in systems pharmacology for studying herbal medicine. We also highlight recent studies that identify modes of action or novel indications of herbal medicine by harnessing drug-induced transcriptome data.

Associations of Perceived Stress Level, Serum Cortisol Level, and Telomere Length of Community-dwelling Adults in Korea (지역사회 거주 성인의 지각된 스트레스, 혈중 코티졸 수준 및 텔로미어 길이의 관련성)

  • Kim, A Young;Kim, Nahyun
    • Journal of Korean Biological Nursing Science
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    • v.24 no.4
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    • pp.235-242
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    • 2022
  • Purpose: To investigate associations of perceived stress level, serum cortisol level, and telomere length of community-dwelling adults in Korea. Methods: Data of a total of 135 community-dwelling adults aged over 40 years living in D metropolitan city from December 2020 to March 2021 were collected. Perceived stress level over the past month were measured using the Perceived Stress Score. Serum cortisol level was analyzed using a chemiluminescent microparticle immunoassay. Telomere length was determined using quantitative real-time polymerase chain reaction. The statistical package SPSS 23.0 was used to perform Chi-square test, independent t-test, and Pearson's correlation coefficient analysis. Results: There was no association between perceived stress and serum cortisol level (r = .07, p= .402). Serum cortisol level was not significantly associated with telomere length either (r = -.15, p= .081). However, the higher the perceived stress level, the shorter the telomere length (r= -.29, p= .001). Conclusion: These results suggest that perceived stress might induce physiological stress, which might partially affect gene biology. Further longitudinal research is needed to investigate the effect of perceived stress on telomere length. Intervention for relieving stress should be included in stabilizing the genetic environment of adults.

Roles of flower scent in bee-flower mediations: a review

  • Bisrat, Daniel;Jung, Chuleui
    • Journal of Ecology and Environment
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    • v.46 no.1
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    • pp.18-30
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    • 2022
  • Background: Bees and flowering plants associations were initially began during the early Cretaceous, 120 million years ago. This coexistence has led to a mutual relationship where the plant serves as food and in return, the bee help them their reproduction. Animals pollinate about 75% of food crops worldwide, with bees as the world's primary pollinator. In general, bees rely on flower scents to locate blooming flowers as visual clue is limited and also their host plants from a distance. In this review, an attempt is made to collect some relevant 107 published papers from three scientific databases, Google Scholar, Scopus, and Web of Science database, covering the period from 1959 to 2021. Results: Flowering plants are well documented to actively emit volatile organic compounds (VOCs). However, only a few of them are important for eliciting behavioral responses in bees. In this review, fifty-three volatile organic compounds belonging to different class of compounds, mainly terpenoids, benzenoids, and volatile fatty acid derivatives, is compiled here from floral scents that are responsible for eliciting behavioral responses in bees. Bees generally use honest floral signals to locate their host plants with nectar and pollen-rich flowers. Thus, honest signaling mechanism plays a key role in maintaining mutualistic plant-pollinator associations. Conclusions: Considering the fact that floral scents are the primary attractants, understanding and identification of VOCs from floral scent in plant-pollinator networks are crucial to improve crop pollination. Interestingly, current advances in both VOCs scent gene identification and their biosynthetic pathways make it possible to manipulate particular VOCs in plant, and this eventually may lead to increase in crop productivity.

Prostate Stem Cell Antigen Single Nucleotide Polymorphisms Influence Risk of Estrogen Receptor Negative Breast Cancer in Korean Females

  • Kim, Sook-Young;Yoo, Jae-Young;Shin, Ae-Sun;Kim, Yeon-Ju;Lee, Eun-Sook;Lee, Yeon-Su
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.1
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    • pp.41-48
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    • 2012
  • Introduction: Breast cancer is the second leading cancer in Korean women. To assess potential genetic associations between the prostate stem cell antigen (PSCA) gene in the chromosome 8q24 locus and breast cancer risk in Korean women, 13 SNPs were selected and associations with breast cancer risk were analyzed with reference to hormone receptor (HR) and menopausal status. Methods:We analyzed DNA extracted from buffy coat from 456 patients and 461 control samples, using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) based upon region-specific PCR followed by allelespecific single base primer extension reactions. Risks associated with PSCA genotypes and haplotypes were estimated with chi-square test (${\chi}^2$-test), and polytomous logistic regression models using odds ratios (OR) and 95% confidence intervals (CIs), by HR and menopausal status. Results: In case-control analysis, odds ratios (OR) of rs2294009, rs2294008, rs2978981, rs2920298, rs2976395, and rs2976396 were statistically significant only among women with estrogen receptor (ER) negative cancers, and those of rs2294008, rs2978981, rs2294010, rs2920298, rs2976394, rs10216533, and rs2976396 were statistically significant only in pre-menopausal women, and not in postmenopausal women. Risk with the TTGGCAA haplotype was significantly elevated in ER (-) status (OR= 1.48, 95% CI= 1.03~2.12, p<0.05). Especially risk of allele T of rs2294008 is significantly low in pre-menopausal breast cancer patients and AA genotype of rs2976395 in ER (-) status represents the increase of OR value. Conclusion: This report indicated for the first time that associations exist between PSCA SNPs and breast cancer susceptibility in Korean women, particularly those who are pre-menopausal with an estrogen receptor negative tumor status.

Associations Between RASSF1A Promoter Methylation and NSCLC: A Meta-analysis of Published Data

  • Liu, Wen-Jian;Tan, Xiao-Hong;Guo, Bao-Ping;Ke, Qing;Sun, Jie;Cen, Hong
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.6
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    • pp.3719-3724
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    • 2013
  • Background: RASSF1A has been reported to be a candidate tumor suppressor in non-small cell lung cancer (NSCLC). However, the association between RASSF1A promoter methylation and NSCLC remains unclear, particularly in regarding links to clinicopathologic features. Methods: Eligible studies were identified through searching PubMed, EMBASE, Cochrane Library and China National Knowledge Infrastructure (CNKI) databases. Studies were pooled and odds ratios (ORs) with corresponding confidence intervals (CIs) were calculated. Funnel plots were also performed to evaluate publication bias. Results: Nineteen studies involving 2,063 cases of NSCLC and 1,184 controls were included in this meta-analysis. A significant association was observed between RASSF1A methylation and NSCLC in the complete data set (OR = 19.42, 95% CI: 14.04-26.85, P < 0.001). Pooling the control tissue subgroups (heterogeneous/autologous) gave pooled ORs of 32.4 (95% CI, 12.4-84.5) and 17.7 (95% CI, 12.5-25.0) respectively. Racial subgroup (Caucasian/Asian) analysis gave pooled ORs of 26.6 (95% CI, 10.9-64.9) and 20.9 (95% CI, 14.4-30.4) respectively. The OR for RASSF1A methylation in poorly-differentiated vs. moderately/well-differentiated NSCLC tissues was 1.88 (95% CI, 1.32-2.68, P<0.001), whereas there were no significant differences in RASSF1A methylation in relation to gender, pathology, TNM stage and smoking behavior among NSCLC cases. Conclusion: This meta-analysis suggests a significant association between RASSF1A methylation and NSCLC, confirming the role of RASSF1A as a tumor suppressor gene. Large-scale and well-designed case-control studies are needed to validate the associations identified in the present meta-analysis.

Associations of Polymorphisms in Four Immune-related Genes with Antibody Kinetics and Body Weight in Chickens

  • Ahmed, A.S.
    • Asian-Australasian Journal of Animal Sciences
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    • v.23 no.8
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    • pp.1089-1095
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    • 2010
  • Four biological candidate genes, natural resistance associated macrophage protein 1 (SLC11A1 or NRAMP), prosaposin (PSAP), interferon Gamma (IFNG), and toll-like receptor 4 (TLR4), were examined to identify single nucleotide polymorphisms (SNP) and associations of the SNP with antibody response kinetics in hens. An $F_2$ population was produced by mating $G_0$ highly inbred (<99%) males of two MHC-congenic Fayoumi lines with highly inbred Leghorn hens. The $F_2$ hens (n = 158) were injected twice with SRBC and whole, fixed Brucella abortus (BA). Blood samples were obtained before each immunization, at 7 d after primary immunization, and at several time points after secondary immunization. Minimum titers (Ymin) and the time needed to reach them (Tmin), and maximum (Ymax) titers and the time needed to reach them (Tmax), were estimated from the seven post-secondary immunization titers using a nonlinear regression model. The $F_2$ hens were genotyped for the four candidate genes by using PCR-RFLP for one SNP per gene, which identified the parental allele. General linear models were used to test associations of SNP genotypes with antibody response parameters and BW measured at 4 ages. The IFNG SNP was highly significantly (p<0.0125) associated with primary response to SRBC, Tmin to BA, Ymin to BA, and 12-week BW. The current study demonstrated that the novel IFNG promoter SNP was associated with antibody kinetics for BA and SRBC in laying hens, and also with BW, suggesting that this cytokine may play a pivotal role in the relationship between immune function and growth.

Molecular Evaluation of DNMT3A and IDH1/2 Gene Mutation: Frequency, Distribution Pattern and Associations with Additional Molecular Markers in Normal Karyotype Indian Acute Myeloid Leukemia Patients

  • Ahmad, Firoz;Mohota, Rupali;Sanap, Savita;Mandava, Swarna;Das, Bibhu Ranjan
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.3
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    • pp.1247-1253
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    • 2014
  • Mutations in the DNMT3A and IDH genes represent the most common genetic alteration after FLT3/NPM1 in acute myeloid leukemia (AML). We here analyzed the frequency and distribution pattern of DNMT3A and IDH mutations and their associations with other molecular markers in normal karyotype AML patients. Fortyfive patients were screened for mutations in DNMT3A (R882), IDH1 (R132) and IDH2 (R140 and R172) genes by direct sequencing. Of the 45 patients screened, DNMT3A and IDH mutations were observed in 6 (13.3%) and 7 (15.4%), respectively. Patients with isolated DNMT3A mutations were seen in 4 cases (9%), isolated IDH mutations in 5 (11.1%), while interestingly, two cases showed both DNMT3A and IDH mutations (4.3%). Nucleotide sequencing of DNMT3A revealed missense mutations (R882H and R882C), while that of IDH revealed R172K, R140Q, R132H and R132S. Both DNMT3A and IDH mutations were observed only in adults, with a higher frequency in males. DNMT3A and IDH mutations were significantly associated with NPM1, while trends towards higher coexistence with FLT3 mutations were observed. This is the first study to evaluate DNMT3A/IDH mutations in Indian patients. Significant associations among the various molecular markers was observed, that highlights cooperation between them and possible roles in improved risk stratification.

KRT13, FAIM2 and CYP2W1 mRNA Expression in Oral Squamous Cell Carcinoma Patients with Risk Habits

  • Hartanto, Firstine Kelsi;Karen-Ng, Lee Peng;Vincent-Chong, Vui King;Ismail, Siti Mazlipah;Mustafa, Wan Mahadzir Wan;Abraham, Mannil Thomas;Tay, Keng Kiong;Zain, Rosnah Binti
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.3
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    • pp.953-958
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    • 2015
  • Background: Expression of KRT13, FAIM2 and CYP2W1 appears to be influenced by risk habits, thus exploring the associations of these genes in oral squamous cell cancer (OSCC) with risk habits, clinico-pathological parameters and patient survival may be beneficial in identifying relevant biomarkers with different oncogenic pathways. Materials and Methods: cDNAs from 41 OSCC samples with and without risk habits were included in this study. Quantitative real-time PCR was used to analyze KRT13, FAIM2 and CYP2W1 in OSCC. The housekeeping gene (GAPDH) was used as an endogenous control. Results: Of the 41 OSCC samples, KRT13 was down-regulated in 40 samples (97.6%), while FAIM2 and CYP2W1 were down-regulated in 61.0% and 48.8%, respectively. Overall, there were no associations between KRT13, FAIM2 and CYP2W1 expression with risk habits, selected socio-demographic and clinico-pathological parameters and patient survival. Conclusions: Although this study was unable to show significance, there were some tendencies in the associations of KRT13, FAIM2 and CYP2W1 expression in OSCC with selected clinic-pathological parameters and survival.