• Title/Summary/Keyword: genetic risk factor

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Impact of testicular shielding in liposarcoma to scrotum by using radio-photoluminescence glass dosimeter (RPLGD): a case report

  • Oonsiri, Puntiwa;Saksornchai, Kitwadee;Suriyapee, Sivalee
    • Radiation Oncology Journal
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    • v.36 no.3
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    • pp.248-253
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    • 2018
  • Radiation protection in the scrotum to reduce the risk of genetic effect in the future is very important. This study aimed to measure the scrotal dose outside the treatment fields by using the radio-photoluminescence glass dosimeter (RPLGD). The characteristics of RPLGD model GD-302M were studied. Scattered dose to scrotum was measured in one liposarcoma case with the prescribed dose of 60 Gy. RPLGDs were placed in three different locations: one RPLGD was positioned at the posterior area which closer to the scrotum, and the other two RPLGDs were placed between the penis and the scrotum. Three RPLGDs were employed in each location. The scattered doses were measured in every fraction during the whole course of treatment. The entire number of 100 RPLGDs showed the uniformity within ±2%. The signal from RPLGD demonstrated linear proportion to the radiation dose (r = 0.999). The relative energy response correction factor was 1.05. The average scrotal dose was 4.1 ± 0.9 cGy per fraction. The results presented a wide range since there was a high uncertainty during RPLGD placement. The total scrotal dose for the whole course of treatment was 101.9 cGy (1.7% of the prescribed dose). The RPLGD model GD-302M could be used to measure scattered dose after applying the relative energy correction factor.

Genetic Variants of CYP2D6 Gene and Cancer Risk: A HuGE Systematic Review and Meta-analysis

  • Zhou, Li-Ping;Luan, Hong;Dong, Xi-Hua;Jin, Guo-Jiang;Man, Dong-Liang;Shang, Hong
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.7
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    • pp.3165-3172
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    • 2012
  • Objective: Genetic polymorphisms in metabolic enzymes are associated with numerous cancers. A large number of single nucleotide polymorphisms (SNPs) in the CYP2D6 gene have been reported to associate with cancer susceptibility. However, the results are controversial. The aim of this Human Genome Epidemiology (HuGE) review and meta-analysis was to summarize the evidence for associations. Methods: Studies focusing on the relationship between CYP2D6 gene polymorphisms and susceptibility to cancer were selected from the Pubmed, Cochrane library, Embase, Web of Science, Springerlink, CNKI and CBM databases. Data were extracted by two independent reviewers and the meta-analysis was performed with Review Manager Version 5.1.6 and STATA Version 12.0 software. Odds ratios (ORs) with 95% confidence intervals (95%CIs) were calculated. Results: According to the inclusion criteria, forty-three studies with a total of 7,009 cancer cases and 9,646 healthy controls, were included in the meta-analysis. The results showed that there was a positive association between heterozygote (GC) of rs1135840 and cancer risk (OR=1.92, 95%CI: 1.14-3.21, P=0.01). In addition, we found that homozygote (CC) of rs1135840 might be a protective factor for cancer (OR=0.58, 95%CI: 0.34-0.97, P=0.04). Similarly, the G allele and G carrier (AG + GG) of rs16947 and heterozygote (A/del) of rs35742686 had negative associations with cancer risk (OR=0.69, 95%CI: 0.48-0.99, P=0.04; OR=0.60, 95%CI: 0.38-0.94, P=0.03; OR=0.50, 95%CI: 0.26-0.95, P=0.03; respectively). Conclusion: This meta-analysis suggests that CYP2D6 gene polymorphisms are involved in the pathogenesis of various cancers. The heterozygote (GC) of rs1135840 in CYP2D6 gene might increase the risk while the homozygote (CC) of rs1135840, G allele and G carrier (AG + GG) of rs16947 and heterozygote (A/del) of rs35742686 might be protective factors.

Correlation between Allergic Rhinitis Prevalence and Immune Responses of Children in Ulsan: A Case-control Study (울산지역 초등학생의 알레르기비염 유병과 면역반응과의 상관성: 환자-대조군 연구)

  • Lee, Jiho;Oh, Inbo;Kim, Ahra;Kim, Minho;Sim, Chang sun;Kim, Yangho
    • Journal of Environmental Health Sciences
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    • v.41 no.4
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    • pp.249-258
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    • 2015
  • Objectives: This study aims to investigate the correlations between the prevalence of allergic rhinitis (AR) and cytokines among elementary school children in an industrial city, Ulsan, South Korea, and to identify major environmental risk factors associated with AR prevalence. Methods: We conducted a case-control study in June 2009 and February 2010 in order to evaluate the relationship between AR and related cytokines. Data on physician-treated prevalence over the past 12 months and potential risk factors for AR were compiled through a questionnaire from a survey of 339 schoolchildren living in different urban environments. Logistic regression analysis was carried out with propensity score matched data (n=180) to assess the influences of cytokines (IL-13, IL-33, IL-4 and IL-5) on AR prevalence and to determine which environmental factors affected AR. Results: In univariate analysis, the AR prevalence was influenced by family history of AR (mother and siblings), environmental factors (odor condition and irritated symptoms of air pollution), and indoor allergens (D. farinae and D. pteronyssinus). The t-test demonstrated that eosinophils, Immunoglobulin E (IgE), and interleukins (IL-13 and IL-5) were statistically significantly different according to treatment of allergic rhinitis over the preceeding 12 months. The results of the multiple logistic regression analysis showed that a statistically significant association between several factors (such as irritated symptoms of air pollution (OR 4.075, CI 1.735-9.568), IL-13 (OR 0.825, CI 0.734-0.928), odor condition (OR 2.409, CI 0.908-6.389), and AR history of siblings (OR 2.217, CI 0.999-4.921)) and the prevalence of AR was found after adjusting for confounders. Conclusion: These results suggest that AR prevalence is significantly associated with cytokine level, genetic background, and outdoor environmental factors. Although living in a polluted area and genetic background can contribute to an increased risk of childhood AR, cytokine level should be considered as an important factor in the treatment of AR in the last 12 months.

Influence of various serum supplement on in vitro culture for goat embryos (다양한 혈청 물질의 첨가가 염소 수정란의 체외배양에 미치는 영향)

  • Kim, Kwan-Woo;Jeon, Dayeon;Lee, Jinwook;Lee, Sung-Soo;Kim, Seungchang;Kim, Chan-Lan;Lee, Sang-Hoon
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.20 no.9
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    • pp.510-516
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    • 2019
  • This study examined the effects of fetal bovine serum (FBS), goat blood serum (gBS), and poly-vinyl alcohol (PVA) on the in vitro development and embryo quality of goats for an improvement of embryo production. For the experiment, an in vitro fertilized embryo culture medium was supplemented with 10% FBS, 10% gBS, and 10% PVA to determine their effects on the embryo development efficiency and blastocyst quality. The results showed that the non-serum supplementation group showed significantly lower cleavage rate and blastocyst formation. On the other hand, the gBS and PVA supplementation groups showed a significant increase in the cleavage rate and better blastocyst formation than the control and FBS supplementation group. Furthermore, a TUNEL assay performed to confirm the blastocyst quality showed the same pattern as the embryo development experiment. These results showed that the supplemented gBS or PVA was more efficient in enhancing the in vitro development efficiency of goats than the supplementation of FBS or non-serum. On the other hand, considering the risk of an unidentified factor in gBS, PVA appears to be safer and more efficient in the in vitro development of goat embryos.

Novel Mutations in the Displacement Loop of Mitochondrial DNA are Associated with Acute Lymphoblastic Leukemia: A Genetic Sequencing Study

  • Yacoub, Haitham Ahmed;Mahmoud, Wael Mahmoud;El-Baz, Hatim Alaa El-Din;Eid, Ola Mohamed;ELfayoumi, Refaat Ibrahim;Elhamidy, Salem Mohamed;Mahmoud, Maged M.
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.21
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    • pp.9283-9289
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    • 2014
  • Background: Acute lymphoblastic leukemia (ALL) is the most common cancer diagnosed in children and represents approximately 25% of cancer diagnoses among those younger than 15 years of age. Materials and Methods: This study investigated alterations in the displacement loop (d-loop) region of mitochondrial DNA (mtDNA) as a risk factor and diagnostic biomarker for early detection and diagnosis of acute lymphoblastic leukemia. Using mtDNA from 23 subjects diagnosed with acute lymphoblastic leukemia, the first 450 bp of the d-loop region were amplified and successfully sequenced. Results: This revealed 132 mutations at 25 positions in this region, with a mean of 6 alterations per subject. The d-loop alterations in mtDNA in subjects were all identified as single nucleotide polymorphisms in a homoplasmic distribution pattern. Mutant alleles were observed in all subjects with individual frequency rates of up to 95%. Thirteen mutant alleles in the d-loop region of mtDNA occurred with a high frequency. Novel alleles and locations were also identified in the d-loop of mtDNA as follows: 89 G insertions (40%), 95 G insertions (13%), 182 C/T substitutions (5%), 308 C insertions (19%), and 311 C insertions (80%). The findings of this study need to be replicated to be confirmed. Conclusions: Further investigation of the relationship between mutations in mitochondrial d-loop genes and incidence of acute lymphoblastic leukemia is recommended.

A Design of Gene-based Nutritional and Exercise Management Service (유전자 기반 영양 관리 및 운동 관리 서비스 설계)

  • Lee, Hye-In;Park, Ju-Yeong;Kim, Young-Hwa;Kim, Hee-Cheol;Huh, Gyung-Hye
    • Proceedings of the Korean Institute of Information and Commucation Sciences Conference
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    • 2019.05a
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    • pp.518-520
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    • 2019
  • As life expectancy has increased, health status becomes an important factor on life. The Fourth Industrial Revolution has led to the development of a variety of healthcare devices and applications that make it easier and more convenient to manage health. In particular, the area of individual genetic analysis with Single Nucleotide Polymorphism (SNP) has expanded, and genetic information is used to treat and prevent diseases according to individual differences. This study analyzes the genetic information of individuals, that is, SNP variant, and identifies specific chronic disease risk groups such as obesity, diabetes and hypertension. After then we will propose a customized nutrition information service. In addition the service of regional exercise management will be provided, to encourage exercise based on walking courses and sports center information in residential areas. Based on the GPS, it will design the service of exercise management that can encourage exercise by providing walking course and sports center information in the residential area.

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Polymorphisms of XRCC1 and ADPRT Genes and Risk of Noncardia Gastric Cancer in a Chinese Population: a Case-control Study

  • Pan, Xiong-Fei;Xie, Yao;Loh, Marie;Yang, Shu-Juan;Wen, Yuan-Yuan;Tian, Zhi;Huang, He;Lan, Hui;Chen, Feng;Soong, Richie;Yang, Chun-Xia
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.11
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    • pp.5637-5642
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    • 2012
  • Objective: Gastric cancer (GC) is one of the most common malignancies and its mortality ranks third among all cancers in China. We previously noted that XRCC1 Arg194Trp was associated with GC risk in Western China in a study on XRCC1 Arg194Trp and ADPRT Val762Ala. We aimed to further explore the association of these polymorphisms with risk of the noncardia subtype. Methods: We enrolled 176 noncardia GC patients and 308 controls from four hospitals and a community between October 2010 and August 2011. Genotyping was performed in a 384-well plate format on the Sequenom MassARRAY platform. A self-designed questionnaire was utilized to collect epidemiological data from the subjects regarding demographic factors and potential risk factors. Results: Subjects were aged $56.8{\pm}11.8$ (mean ${\pm}$ standard deviation) and $57.6{\pm}11.1$ years in the case and control groups, respectively. Individuals carrying the XRCC1 Trp/Trp or Arg/Trp variant genotype were at significantly increased risk of noncardia GC (adjusted OR, 1.48; 95% CI, 1.00-2.17), after adjustment for family history of cancer, drinking, and smoking. The increased risk of XRCC1 Arg194Trp variant genotype was more pronounced among subjects below 60 years old (adjusted OR, 1.78; 95% CI, 1.07-2.96), compared to older individuals. ADPRT Val762Ala variants (Ala/Ala or Val/Ala) were not associated with noncardia GC (adjusted OR, 1.03; 95% CI, 0.69-1.54). Conclusions: Our study suggests that XRCC1 Arg194Trp is a genetic susceptibility factor for developing noncardia GC in Han Chinese in Western China. In particular, individuals with the XRCC1 Arg194Trp variant genotype are at increased risk for GC below 60 years old.

CYP2W1, CYP4F11 and CYP8A1 Polymorphisms and Interaction of CYP2W1 Genotypes with Risk Factors in Mexican Women with Breast Cancer

  • Cardenas-Rodriguez, N.;Lara-Padilla, E.;Bandala, C.;Lopez-Cruz, J.;Uscanga-Carmona, C.;Lucio-Monter, P.F.;Floriano-Sanchez, E.
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.3
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    • pp.837-846
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    • 2012
  • Breast cancer (BCa) is the leading type of cancer in Mexican women. Genetic factors, such as single nucleotide polymorphisms (SNP) of P450 system, have been reported in BCa. In this report, and for the first time in the literature, we analyzed the rs3735684 (7021 G>A), rs11553651 (15016 G>T) and rs56195291 (60020 C>G) polymorphisms in the CYP2W1, 4F11 and 8A1 genes in patients with BCa and in healthy Mexican women to identify a potential association between these polymorphisms and BCa risk. Patients and controls were used for polymorphism analysis using an allelic discrimination assay with TaqMan probes and confirmed by DNA sequencing. Links with clinic-pathological characteristics were also analyzed. Statistical analysis was performed using the standard ${\chi}^2$ or Fisher exact test statistic. No significant differences were observed in the distributions of CYP2W1 (OR 8.6, 95%CI 0.43-172.5 P>0.05; OR 2.0, 95%CI 0.76-5.4, P>0.05) and CYP4F11 (OR 0.3, 95%CI 0.01-8.4 P>0.05) genotypes between the patients and controls. Only the CYP8A1 CC genotype was detected in patients with BCa and the controls. All polymorphism frequencies were in Hardy-Weinberg Equilibrium (HWE) in the controls (P>0.05). We found a significant association between BCa risk and smoking, use of oral contraceptives or hormonal replacement therapy (HRT), obesity, hyperglycemia, chronic diseases, family history of cancer and menopausal status in the population studied (P<0.05). Tobacco, oral contraceptive or HRT, chronic diseases and obesity or overweight were strongly associated with almost eight, thirty-five, nine and five-fold increased risk for BCa. Tobaco, obesity and hyperglycemia significantly increased the risk of BCa in the patients carrying variant genotypes of CYP2W1 (P<0.05). These results indicate that the CYP2W1 rs3735684, CYP4F11 rs11553651 and CYP8A1 rs56195291 SNPs are not a key risk factor for BCa in Mexican women. This study did not detect an association between the CYP2W1, 4F11 and 8A1 genes polymorphisms and BCa risk in a Mexican population. However, some clinico-pathological risk factors interact with CYP2W1 genotypes and modifies susceptibility to BCa.

Association between the NQO1 C609T Polymorphism with Hepatocellular Carcinoma Risk in the Chinese Population

  • Zhao, Hong;Zou, Li-Wei;Zheng, Sui-Sheng;Geng, Xiao-Ping
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.5
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    • pp.1821-1825
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    • 2015
  • Background: Associations between the NQO1 C609T polymorphism and hepatocellular carcinoma (HCC) risk are a subject of debate. We therefore performed the present meta-analysis to evaluate links with HCC susceptibility. Materials and Methods: Several major databases (PubMed, EBSCO), the Chinese national knowledge infrastructure (CNKI) and the Wanfang database were searched for eligible studies. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were used to measure the strength of associations. Results: A total of 4 studies including 1,325 patients and 1,367 controls were identified. There was a significant association between NQO1 C609T polymorphism and HCC for all genetic models (allelic model: OR=1.45, 95%CI=1.23-1.72, p<0.01; additive model: OR=1.96, 95%CI=1.57-2.43, p<0.01; dominant model: OR=1.62, 95%CI=1.38-1.91, p<0.01; and recessive model: OR=1.53, 95%CI=1.26-1.84, p<0.01). On subgroup analysis, similarly results were identified in Asians. For Asians, the combined ORs and 95% CIs were (allelic model: OR=1.50, 95%CI=1.24-1.82, p<0.01; additive model: OR=2.11, 95%CI=1.48-3.01, p<0.01; dominant model: OR=1.69, 95%CI=1.42-2.02, p<0.01; and recessive model: OR=1.59, 95%CI=1.16-2.19, p<0.01). Conclusions: The current meta-analysis suggested that the NQO1 C609T polymorphism could be a risk factor for developing HCC, particularly in the Chinese population.

Evaluation of the MTHFR C677T Polymorphism as a Risk Factor for Colorectal Cancer in Asian Populations

  • Rai, Vandana
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.18
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    • pp.8093-8100
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    • 2016
  • Background: Genetic and environmental factors play important roles in pathogenesis of digestive tract cancers like those in the esophagus, stomach and colorectum. Folate deficiency and methylenetetrahydrofolate reductase (MTHFR) as an important enzyme of folate and methionine metabolism are considered crucial for DNA synthesis and methylation. MTHFR variants may cause genomic hypomethylation, which may lead to the development of cancer, and MTHFR gene polymorphisms (especially C677T and A1298C) are known to influence predispositions for cancer development. Several case control association studies of MTHFR C677T polymorphisms and colorectal cancer (CRC) have been reported in different populations with contrasting results, possibly reflecting inadequate statistical power. Aim: The present meta-analysis was conducted to investigate the association between the C677T polymorphism and the risk of colorectal cancer. Materials and Methods: A literature search of the PubMed, Google Scholar, Springer link and Elsevier databases was carried out for potential relevant articles. Pooled odds ratio (OR) with corresponding 95 % confidence interval (95 % CI) was calculated to assess the association of MTHFR C677T with the susceptibility to CRC. Cochran's Q statistic and the inconsistency index (I2) were used to check study heterogeneity. Egger's test and funnel plots were applied to assess publication bias. All statistical analyses were conducted by with MetaAnalyst and MIX version 1.7. Results: Thirty four case-control studies involving a total of 9,143 cases and 11,357 controls were retrieved according to the inclusion criteria. Overall, no significant association was found between the MTHFR C677T polymorphism and colorectal cancer in Asian populations (for T vs. C: OR=1.03; 95% CI= 0.92-1.5; p= 0.64; for TT vs CC: OR=0.88; 95%CI= 0.74-1.04; p= 0.04; for CT vs. CC: OR = 1.02; 95%CI= 0.93-1.12; p=0.59; for TT+ CT vs. CC: OR=1.07; 95%CI= 0.94-1.22; p=0.87). Conclusions: Evidence from the current meta-analysis indicated that the C677T polymorphism is not associated with CRC risk in Asian populations. Further investigations are needed to offer better insight into any role of this polymorphism in colorectal carcinogenesis.