• Title/Summary/Keyword: Gene susceptibility

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Genetic Association between ERCC5 rs17655 Polymorphism and Colorectal Cancer Risk: Evidence Based on a Meta-analysis

  • Zeng, Yong;Wei, Li;Wang, Ya-Jie;Liu, Chuan
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.13
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    • pp.5565-5571
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    • 2015
  • Background: Previous studies evaluating the association between the excision repair cross complementing group 5 (ERCC5) gene rs17655 polymorphism and colorectal cancer susceptibility generated controversial results. To generate large-scale evidence on whether the ERCC5 rs17655 polymorphism might indeed be associated with colorectal cancer susceptibility, the present meta-analysis was performed. Materials and Methods: Data were collected from PubMed, Embase and Web of Science, with the last report up to Apr 03, 2015. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of any association. Results: A total of nine studies including 5,102 cases and 6,326 controls based on the search criteria were included and significant associations were found between ERCC5 rs17655 polymorphism CG vs GG overall (OR = 1.29, 95% CI =1.18~1.40) and in the dominant model (OR=1.23, 95% CI =1.13~1.33). On subgroup analysis by ethnicity and source of controls, the ERCC5 rs17655 polymorphism was found to correlate with the pathogenesis of colorectal cancer among Asians and Caucasians and with hospital-based populations. Conclusions: This meta-analysis suggests that the ERCC5 rs17655 polymorphism might contribute to genetic susceptibility to colorectal cancer.

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.

Polymorphisms of tumor necrosis factor-alpha promotor gene in Kawasaki disease and relation to the risk of coronary artery lesion (가와사키병에서의 TNF-alpha 유전자의 다형성 및 관상동맥 합병증과의 연관성)

  • Kim, Se-hwa;Yun, Jang-won;Lee, Young-hyuk;Cheon, Eun-jung
    • Clinical and Experimental Pediatrics
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    • v.52 no.4
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    • pp.476-480
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    • 2009
  • Purpose : The purpose of this study was to investigate the polymorphisms of the TNF-alpha promotor gene, its susceptibility to Kawasaki disease (KD) and to assess whether the TNF-alpha promotor gene polymorphism was related the risk of coronary artery lesions (CALs). Methods : From January 2003 to January 2007, 51 children (30 boys and 21 girls) with KD and 48 children forming an age-matched control group were studied. DNA from the peripheral blood of all the children was sampled, and the DNA polymorphisms of the 5' flanking regions of the TNF-alpha promoter gene at position -308 [guanine (G) to adenine (A)] were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Then, the relationship between KD and the TNF-alpha promotor gene polymorphisms was evaluated. Results : The A allele frequency of the -308 site of the TNF-alpha promotor gene was 17.6% (9/51) for children with KD and 6.8% (3/48) for the control group children, but this result was not statistically significant. Twenty-four patients experienced CALs within 60 days after the onset of symptoms. KD children with TNF-alpha -308 A allele had lower frequencies of CALs (12.5% versus 22.2%, P>0.05). Conclusion : The DNA polymorphism of the -308 site TNF-alpha gene was not associated with susceptibility to KD and a risk of CALs. Multicenter, large-scale randomized controlled trials are needed for further study.

Identification and Screening of Gene(s) Related to Susceptibility to Enterotoxigenic Escherichia coli F4ab/ac in Piglets

  • Li, Hejun;Li, Yuhua;Qiu, Xiaotian;Niu, Xiaoyan;Liu, Yang;Zhang, Qin
    • Asian-Australasian Journal of Animal Sciences
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    • v.21 no.4
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    • pp.489-493
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    • 2008
  • In 2004, Jorgensen and coworkers proposed the MUC4 gene as a candidate gene of enterotoxigenic Escherichia coli (ETEC) F4ab/ac receptor in piglets and a mutation of $G{\rightarrow}C$ in intron 7 of MUC4 was identified to be associated with the ETEC F4ab/ac adhesion phenotypes. In this study, we used 310 piglets of three breeds (Landrace, Large White and Chinese Songliao Black) to analyze the relationship between this mutation and the F4ab/ac adhesion phenotype. The results show that the genotypes at this site and the ETEC F4ab/ac adhesion phenotypes were not completely consistent, although they are very strongly associated. Among the individuals with genotype CC, which was identified as a resistant genotype to F4ab/ac adhesion, only 72.1% (124/172) were non-adhesive to ETEC F4ab and 77.9% (134/172) were non-adhesive to ETEC F4ac infections. This suggests that this mutation may not be the causative mutation for ETEC F4ab/ac adhesion, rather, the actual causative mutation may be in another gene closely linked to MUC4, or at aother site within the MUC4 gene. Our results also suggest that the receptors of F4ab and F4ac may be determined by two different but closely linked loci. In order to screen other genes related to F4ab/ac adhesion in piglets, the mRNA profiles from six full sib piglets, of which three were adhesive to ETEC F4ab/ac and three non-adhesive, were analyzed by suppression subtractive hybridization (SSH). One up-regulated gene, Ep-CAM, was selected for further analysis based on its role in the intestinal epithelial cells adhesion. Using real-time RT-PCR, we found that the Ep-CAM gene was significantly up-regulated in the piglets adhesive to F4ab/ac. It was mapped to SSC3q11-q14 by radiation hybrid mapping.

Comparison of Harboring the Resistance Gene and Disc Diffusion Susceptibility Test Result in Staphylococcus pseudintermedius from the Bacterial Dermatitis (세균성 피부염 개에서 분리된 Staphylococcus pseudintermedius에서 항생제 감수성 검사와 내성 유전자 획득의 비교)

  • Jang, Hye-Jin;Son, Hyoung-Won;Kang, Hyo-Min;Han, Jae-Ik;Na, Ki-Jeong
    • Journal of Veterinary Clinics
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    • v.32 no.2
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    • pp.158-161
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    • 2015
  • Bacterial dermatitis is common disease that is necessary to treat with antibiotics. In recent, antibiotic-resistant bacteria is being increased in worldwide. The purpose of the present study was to evaluate the prevalence of resistant genes in Staphylococcus (S.) pseudintermedius isolated from dogs, and to compare the resistant gene profile with the result of antibiotic disc diffusion test. A total of seven S. pseudintermedius was included in the study. Bacterial identification was performed by 16S ribosomal RNA gene sequence analysis. S. pseudintermedius isolates had more than one antibiotic resistant gene (mecA, blaZ and aac(6')/aph(2"). While all isolates were PCR positive to blaZ gene, only two isolates were resistant to amoxicillin/clavulanate. Among five isolates harboring gentamicin resistance, one isolate was negative to aac(6')/aph(2")-targeted PCR. Taken together, the results suggest that resistant gene-targeted PCR and disc diffusion test are complementary to detect antibiotic resistance.

DNA chip Analysis of Psoriatic Skin during the Oriental Remedy (DNA chip을 이용한 건선의 한방치료에 관한 유전체 연구)

  • Kim Byoung Soo;Lee Sang Keun;Kim Hyun Woong;Lee Jeung Hoon;Lim Jong Soon;Kang Jung Soo
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.18 no.2
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    • pp.468-473
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    • 2004
  • Psoriasis is a chronic inflammatory disease of the skin characterized by epidermal hyperplasia, dermal angiogenesis, infiltration of activated T cells, and increased cytokine levels, and affects 1-3% of the world-wide population. Although many immunological and clinical reports indicate a role for the immune system in the pathogenesis of psoriasis, puzzling questions about psoriasis remain unsolved. During the several decade, immunosuppressor and PUVA treatment are ubiquitously used to psoriasis therapy. But recently, to promote terminal differentiation of keratinocytes, block either NK-Tcell or T-cell activation, and interrupting the angiogenic switch represent another therapeutic opportunity in psoriasis. To keep face with immunological therapy, the needs of newly designed prescription on the psoriasis treatments were demanded. With the object of understand the psoriasis from an orient medical point of view, patients were administrated the GY during several weeks. We investigated the changes of gene expression in involved and uninvolved skin samples during the oriental remedy. Microarray data showed several important results. First, Gene expression profiling is similar to each patient. Second, precursor proteins that organize cornified envelops are decreased at the end of remedy. But genes which related to apoptosis, G-protein signalling, and lipid metabolism are increased. Third, 68.5% of clustering genes localized on the psoriasis susceptibility locus. In our results indicated that GY influence on the keratinocytes hyperproliferation by regulating the gene, which located on the psoriasis susceptibility locus.

Genetic Susceptibility to Esophageal Cancer due to CYP1A1 Gene Variant rs4646903 in Tobacco Addicted Patients of Pashtun Ethnicity: a Case Control Study in Khyber Pakhtunkhwa Province of Pakistan

  • Zakiullah, Zakiullah;Saeed, Muhammad;Ali, Sajid;Javed, Nabila;Khisroon, Muhammad;Muhammad, Basir;Khuda, Fazli;Ahmad, Saeed;Ismail, Mohammad
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.16
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    • pp.6715-6720
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    • 2014
  • The purpose of this study was to evaluate associations of the CYP1A1 gene variant rs4646903 polymorphism with the risk of developing esophageal cancer (EC). A case-control study was carried out in Pashtun population of Khyber Pakhtunkhwa province of Pakistan in which 140 hospital based EC cases and 196 population based healthy controls exposed to similar environmental conditions were included. A specific method based on the real time polymerase chain reaction (RT-PCR) was used to detect genotypes in case and control groups and results were then analyzed with SPSS version 20. In our population, individuals with CC and TC genotypes of the CYP1A1 rs4646903 polymorphism had significantly higher risk of EC (adjusted odds (OR): 15.709, 95%CI: 6.065-40.686, OR: 3.256 95%CI: 1.902-5.574 respectively). The 'C' allele was strongly associated with the disease (p< 0.0001). Adjusted OR was higher (1.5 times in C/C) in case of variant alleles that show the contribution of environmental and nutritional factors towards the development of EC. Our findings suggest that presence of the 'C' allele of rs4646903 (T>C) may be one of the risk alleles for EC susceptibility in Pashtun population.

Association between the XRCC1 Arg194Trp Polymorphism and Glioma Risk: an Updated Meta-analysis

  • Xu, Cheng;Chen, Pin;Liu, Wei;Gu, Ai-Hua;Wang, Xin-Ru
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.17
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    • pp.7419-7424
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    • 2014
  • Gliomas are the most common type of primary brain tumors. The XRCC1 Arg194Trp variant affects the proliferating cell nuclear antigen(PCNA) binding region, which suggests that this mutation may contribute to gliomagenesis and a number of articles have examine the association between XRCC1 Arg194Trp and the susceptibility to glioma. However, the results were conflicting. Test of heterogeneity, sensitivity analysis, meta-analysis, and assessment of publication bias were all performed in our present meta-analysis, covering a total of 5,407 patients and 7,715 healthy persons. In the overall analysis the XRCC1 Arg194Trp polymorphism showed a significant association with glioma susceptibility in a recessive mode l(for TrpTrp vs ArgArg+ArgTrp: OR=1.918, 95%CI=1.575-2.336, $I^2$=2.3%). In addition, analysis of subgroups presented an increased risk in Asians and populations-based on hospitals. The results suggested that the XRCC1 Arg194Trp polymorphism is a genetic risk factor for glioma, especially in Asian population. To further evaluate gene-gene and gene-environment interactions on XRCC1 polymorphisms and glioma risk, thousands of subjects and tissue-specific biochemical characterizations are required.

Polymorphisms in XRCC1 Gene, Alcohol drinking, and Risk of Colorectal Cancer: a Case-control Study in Jiangsu Province of China

  • Gao, Chang-Ming;Ding, Jian-Hua;Li, Su-Ping;Liu, Yan-Ting;Cao, Hai-Xia;Wu, Jian-Zhong;Tang, Jin-Hai;Tajima, Kazuo
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.11
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    • pp.6613-6618
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    • 2013
  • To evaluate the relationship between alcohol drinking, XRCC1 codon 194 and 399 polymorphisms and risk of colorectal cancer, we conducted a case-control study with 315 colorectal cancer cases (105 colon, 210 rectal) and 439 population-based controls in Jiangsu Province of China. The XRCC1 codon 194 and 399 genotypes were identified using polymerase chain reaction and restrictrion fragment length polymorphism methods (PCR-RFLP). A structured questionnaire was used to elicit detailed information. Odds ratios (ORs) were estimated with an unconditional logistic model. In this study no significant differences were observed among the studied groups with regard to the genotype distribution of the XRCC1 codons 194 and 399 and the risk of colorectal cancer did not appear to be significantly influenced by genotype alone, whereas alcohol consumption showed a positive association (P for trend <0.01). When combined effects of XRCC1 polymorphisms and alcohol consumption were analyzed, we found that the 194Trp or 399Gln alleles further increased the colorectal cancer risk due to high alcohol intake. These findings support the conclusion that colorectal cancer susceptibility may be altered by gene-environment interactions.

TP63 Gene Polymorphisms, Cooking Oil Fume Exposure and Risk of Lung Adenocarcinoma in Chinese Non-smoking Females

  • Yin, Zhi-Hua;Cui, Zhi-Gang;Ren, Yang-Wu;Su, Meng;Ma, Rui;He, Qin-Cheng;Zhou, Bao-Sen
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.11
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    • pp.6519-6522
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    • 2013
  • Background: Genetic polymorphisms of TP63 have been suggested to influence susceptibility to lung adenocarcinoma development in East Asian populations. This study aimed to investigate the relationship between common polymorphisms in the TP63 gene and the risk of lung adenocarcinoma, as well as interactions of the polymorphisms with environmental risk factors in Chinese non-smoking females. Methods: A case-control study of 260 cases and 318 controls was conducted. Data concerning demographic and risk factors were obtained for each subject. The genetic polymorphisms were determined by Taqman real-time PCR and statistical analyses were performed using SPSS software. Results: For 10937405, carriers of the CT genotype or at least one T allele (CT/TT) had lower risks of lung adenocarcinoma compared with the homozygous wild CC genotype in Chinese nonsmoking females (adjusted ORs were 0.68 and 0.69, 95%CIs were 0.48-0.97 and 0.50-0.97, P values were 0.033 and 0.030, respectively). Allele comparison showed that the T allele of rs10937405 was associated with a decreased risk of lung adenocarcinoma with an OR of 0.78 (95%CI=0.60-1.01, P=0.059). Our results showed that exposure to cooking oil fumes was associated with increased risk of lung adenocarcinoma in Chinese nonsmoking females (adjusted OR=1.58, 95%CI=1.11-2.25, P=0.011). However, we did not observe a significant interaction of cooking oil fumes and TP63 polymorphisms. Conclusion: TP63 polymorphism might be a genetic susceptibility factor for lung adenocarcinoma in Chinese non-smoking females, but no significant interaction was found with cooking oil fume exposure.