• Title/Summary/Keyword: Factor Ⅶ and RFLP

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Association of the -2518 A/G Polymorphism of MCP-1 with Breast Cancer in Punjab, North-West India

  • Sambyal, Vasudha;Guleria, Kamlesh;Kapahi, Ruhi;Manjari, Mridu;Sudan, Meena;Uppal, Manjit Singh;Singh, Neeti Rajan
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.16
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    • pp.7243-7248
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    • 2015
  • Background: Monocyte chemoattractant protein-1 (MCP-1) is a major chemokine thought to be responsible for monocyte and T-lymphocyte recruitment in acute inflammatory conditions and recruitment of macrophages in tumors. It is also implicated in cardiovascular disease, rheumatoid arthritis and chronic obstructive pulmonary disease. The aim of the present study was to investigate the correlation between MCP-1 -2518 A/G polymorphism and breast cancer risk in patients from Amritsar city of Punjab state in North-West India. Materials and Methods: We screened DNA samples of 200 sporadic breast cancer patients and 200 age and gender matched unrelated healthy individuals for MCP-1 -2518 A/G polymorphism using the PCR-RFLP method. Results: A significantly increased frequency of the GG genotype was observed in patients as compared to controls. Individuals carrying the MCP1 -2518GG genotype had a two fold risk for breast cancer (OR=2.06, 95%CI, 1.06-3.98; p=0.03). Genetic models analysis revealed a significant association between MCP-1 -2518 A/G polymorphism and cancer risk in homozygous co-dominant (OR=2.06, 95%CI, 1.06-3.98; p=0.03) and recessive (OR=1.97, 95%CI, 1.05-3.70; p=0.03) models. Conclusions: We conclude that the GG genotype of the MCP-1-2518 A/G polymorphism is associated with increased risk to breast cancer in Punjab, North-West India.

The Influence of ADH1B, ALDH2 Activities and Their Combination on Drinking Behaviors of Korean Young Adults (ADH1B와 ALDH2 활성 조합이 젊은 한국인의 음주 행동에 미치는 영향)

  • Park, Jae-Young;Kim, Sie-Kyeong;Lee, Sang-Ick
    • Korean Journal of Biological Psychiatry
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    • v.17 no.1
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    • pp.26-36
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    • 2010
  • Objectives : It is well-known that Korean people show distinctive drinking behaviors depending on the gene polymorphisms of alcohol metabolizing enzymes. This study examined the gene polymorphisms of ALDH2 and ADH1B and their combination on the drinking behaviors of Korean young adults. Methods : Through a follow-up survey performed for a cohort consisting of 551 university freshmen for six years, the authors attempted to identify genetic factors affecting drinking behaviors. In 2000, drinking behaviors and scores of CAGE questionnaires were assessed and ALDH2 gene polymorphism was determined with PCR-RFLP. In 2006(n= 150), AUDIT-K was assessed in addition to the above and gene polymorphism of ADH1B was determined through SNaPshot$^{TM}$ method. Results : While ALDH2*2 allele was associated with increased degree of drinking in 2000 and 2006. When both enzymes were active, the possibility to be classified into the risk group for alcohol dependence such as AUDIT-K(>12), and CAGE(>2) was high. Conclusion : The ALDH2 genotype had a significant effect on drinking behavior and degree of drinking during early adulthood. However, the combination of the active form of ADH1B and the active form of ALDH2 can be risk factor for problem drinking.

The Association between Peroxisome Proliferator-Activated Receptor-Gamma C161T Polymorphism and Type 2 Diabetic Complications (제 2형 당뇨병 및 당뇨 합병증의 발생과 Peroxisome Proliferator-Activated Receptor-$\gamma2$ C161T 유전자 다형성과의 관계)

  • Lee, Byung-Cheol;Ahn, Se-Young;Doo, Ho-Kyung;Ahn, Young-Min
    • The Journal of Internal Korean Medicine
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    • v.28 no.4
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    • pp.902-910
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    • 2007
  • Objective : Peroxisome proliferator-activated receptor (PPAR)-gamma, a transcription factor in adipocyte differentiation, has important effects on insulin sensitivity, atherosclerosis, endothelial cell function and inflammation. Through these effects, PPAR-gamma2 might be involved with type 2 diabetes and vascular disease, including diabetic complications. Recently, it has been reported that the C161T polymorphism in the exon 6 of PPAR-gamma is associated with type 2 diabetes interacting with uncoupling protein 2 (UCP2) gene, and is associated with acute myocardial infarction. We studied the association of this polymorphism with type 2 diabetes and its complications, such as retinopathy, ischemic stroke, nephropathy and neuropathy in Korean non-diabetic and type 2 diabetic populations. Methods : Three hundred and thirty eight type 2 diabetic patients (retinopathy: 64, ischemic stroke: 67, nephropathy: 39 and neuropathy: 76) and 152 healthy matched control subjects were evaluated. The PPAR-gamma C161T polymorphism was analyzed by PCR-RFLP. Results : PPAR-gamma C161T genotype and allele frequency did not show significant differences between type 2 diabetic patients and healthy controls (T allele: 17.0 vs. 14.5, OR= 1.21, P=0.3188). In the analysis for diabetic complications, T allele in diabetic nephropathy was significantly higher than controls (P=0.0358). T allele in the ischemic stroke patients was also higher than healthy controls, although it had no significance (P=0.1375). Conclusions : These results suggest that the C161T polymorphism of the PPAR-gamma gene might be associated with diabetic nephropathy in type 2 diabetes.

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Association of TAP1 and TAP2 Gene Polymorphisms with Hematological Malignancies

  • Ozbas-Gerceker, Filiz;Bozman, Nazli;Gezici, Sevgi;Pehlivan, Mustafa;Yilmaz, Mehmet;Pehlivan, Sacide;Oguzkan-Balci, Sibel
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.9
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    • pp.5213-5217
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    • 2013
  • Transporter associated with antigen presenting (TAP) 1 and TAP2 genes are localized in the major histocompatability complex (MHC) class II region and form a heterodimer playing a key role in endogenous pathways for antigen presentation. Defects of these genes have been reported to be common in different types of cancer. Polymorphisms identified in these loci have also been investigated and reported to be associated with several autoimmune disorders, viral infections and neoplasms. In the present study, for the first time, the allele and genotype frequencies of TAP1-333, TAP2-565, TAP2-651 and TAP2-665 were determined in patients with hematological malignancies (HM) using a PCR-RFLP method and compared with the frequencies in the control group. Our results suggested an association of TAP1-333 polymorphism with multiple myeloma-MM and TAP2-565 polymorphism with chronic lymphoid leukemia-CLL. In addition, it could be concluded that the TAP2-665 GG genotype might be a risk factor for all types of hematological malignancies included in this study.

Evaluation of Risk Factors for Nasopharyngeal Carcinoma in a High-risk Area of India, the Northeastern Region

  • Lourembam, Deepak Singh;Singh, Asem Robinson;Sharma, T. Dhaneshor;Singh, Th Sudheeranjan;Singh, Thiyam Ramsing;Singh, Lisam Shanjukumar
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.12
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    • pp.4927-4935
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    • 2015
  • Northeastern India is a major nasopharyngeal carcinoma (NPC) high risk-area although the rest of the country has very low incidence. A case-control study of 105 NPC cases and 115 controls was conducted to identify the potential risk factors for NPC development in this region. Information was collected by interviewer about socio-demographic characteristics, cigarette smoking, alcohol consumption, dietary history, occupational history, and a family history of cancer. Epstein-Barr viral load was assayed from the blood DNA by real time PCR. Associations between GSTs genotypes, cytochrome P450 family including CYP1A1, CYP2E1 and CYP2A6 polymorphisms and susceptibility to relationship between the diseases were studied using PCR-RFLP assay. Results indicate that Epstein-Barr virus load was significantly higher in patients compared to controls (p<0.0001). Furthermore, concentration of blood EBV-DNA was significantly higher in advanced stage disease (Stage III and IV) than in early stage disease (Stage I and II) (p<0.05). Presence of CYP2A6 variants that reduced the enzyme activity was significantly less frequent in cases than controls. Smoked meat consumption, exposure to smoke, living in poorly ventilated house and alcohol consumption were associated with NPC development among the population of Northeastern India. Thus, overall our study revealed that EBV viral load and genetic polymorphism of CYP2A6 along with living practices which include smoked meat consumption, exposure to smoke, living in poorly ventilated houses and alcohol consumption are the potential risk factors of NPC in north eastern region of India. Understanding of the risk factors and their role in the etiology of NPC are helpful forpreventive measures and screening.

Clarithromycin Resistance Prevalence and Icea Gene Status in Helicobacter Pylori Clinical Isolates in Turkish Patients with Duodenal Ulcer and Functional Dyspepsia

  • Baglan Peren H.;Bozdayi Gulendam;Ozkan Muhip;Ahmed Kamruddin;Bozdayi A. Mithat;Ozden Ali
    • Journal of Microbiology
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    • v.44 no.4
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    • pp.409-416
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    • 2006
  • Clarithromycin resistance in Helicobacter pylori is a principal cause of failure of eradication therapies, and its prevalence varies geographically. The IceA gene is a virulence factor associated with clinical outcomes. The objective of this study was to determine the current state of clarithromycin resistance prevalence, and to investigate the role of iceA genotypes in 87 Turkish adult patients (65 with functional dyspepsia and 22 with duodenal ulcer). A2143G and A2144G point mutations were tested by PCR-RFLP for clarithromycin resistance. Among the patients in the study, 28 patients were tested by agar dilution as well. Allelic variants of the iceA gene were identified by PCR. A total of 24 (27.6%) strains evidenced one of the mutations, either A2143G or A2144G. IceA1 was found to be positive in 28 of the strains (32.2 %), iceA2 was positive in 12 (13.8 %) and, both iceA1 and iceA2 were positive in 22 (25.3 %) strains. In conclusion, we discovered no relationships between iceA genotypes and functional dyspepsia or duodenal ulcer, nor between clarithromycin resistance and iceA genotypes. clarithromycin resistance appears to be more prevalent in Turkish patients.

GSTP1 Gene Ile105Val Polymorphism Causes an Elevated Risk for Bladder Carcinogenesis in Smokers

  • Pandith, Arshad Ahmad;Lateef, Adil;Shahnawaz, Sheikh;Hussain, Aashaq;Malla, Tahir Mohiuddin;Azad, Niyaz;Shehjar, Fahim;Salim, Mosin;Shah, Zafar Amin
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.11
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    • pp.6375-6378
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    • 2013
  • Background: The glutathione S transferase (GST) family of enzymes plays a vital role in the phase II biotransformation of environmental carcinogens, pollutants, drugs and other xenobiotics. GSTs are polymorphic and polymorphisms in GST genes have been associated with cancer susceptibility and prognosis. GSTP1 is associated with risk of various cancers including bladder cancer. A case control study was conducted to determine the genotype distribution of GSTP1 A>G SNP, to elucidate the possible role of this SNP as a risk factor in urinary bladder cancer (UBC) development and to examine its correlation with clinico-pathologic variables inUBC cases. Materials and Methods: Using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) approach, we tested the genotype distribution of 180 bladder cancer patients in comparison with 210 cancer-free controls from the same geographical region with matched frequency in age and gender. Results: We did not observe significant genotype differences between the control and bladder cancer patients overall with an odds ratio (OR)=1.23 (p>0.05). The rare allele (AG+GG) was found to be present more in cases (28.3%) than in controls (24%), though the association was not significant (p<0.05). However, a significant risk of more than 2-fold was found for the variant allele (AG+GG) with smokers in cases as compared to controls (p>0.05). Conclusions: Thus, it is evident from our study that GSTP1 SNP is not implicated overall in bladder cancer, but that the rare, valine-related allele is connected with higher susceptibility to bladder cancer in smokers and also males.

PPAR-Gamma Pro12Ala Polymorphism and Gastric Cancer Risk in a Turkish Population

  • Canbay, Emel;Kurnaz, Ozlem;Canbay, Bahar;Bugra, Dursun;Cakmakoglu, Bedia;Bulut, Turker;Yamaner, Sumer;Sokucu, Necmettin;Buyukuncu, Yilmaz;Yilmaz-Aydogan, Hulya
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.11
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    • pp.5875-5878
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    • 2012
  • Background: Peroxisome proliferator-activated receptor gamma ($PPAR{\gamma}$) is a ligand dependent transcription factor involved in various processes, including carcinogenesis. We aimed to investigate any possible association of the $PPAR{\gamma}$ Pro12Ala (rs1801282) polymorphism with risk of developing gastric cancer (GC). Patients and Methods: A hospital based case control study was designed covering 50 patients with GC and 120 healthy controls. The frequencies of $PPAR{\gamma}$ Pro12Ala (rs1801282) were determined using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Results: The Ala12 allele of the $PPAR{\gamma}$ Pro12Ala G gene was associated with a 1.95 fold increased risk of GC development (p: 0.022; 95% CI: 1.58-2.40). Subgroup analyses showed that the same allele was also associated with metastasis (p: 0.000; OR:4.09; 95%CI:2.273-7.368) and differentiation (p: 0.004; OR:1.95; 95%CI:1.335-2.875) in patients with GC. Conclusion: This study suggests that the $PPAR{\gamma}$ Pro12Ala G (Ala12) allele might be associated with development, differentiation and metastatic process of GC in the Turkish population. Further studies conducted in larger study groups and in different ethnic populations will be needed to clarify the exact role of the $PPAR{\gamma}$ Pro12Ala polymorphism in GC.

Association Between EGF, TGF-β1 and TNF-α Gene Polymorphisms and Hepatocellular Carcinoma

  • Shi, Hai-Zhou;Ren, Peng;Lu, Qing-Jun;Niedrgethmnn, Marco;Wu, Guo-Yang
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.12
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    • pp.6217-6220
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    • 2012
  • Introduction: Up to present, EGF $61^*A$/G, TGF-${\beta}1$-$509^*T$/C and TNF-${\alpha}$-$308^*A$/G gene polymorphisms have been analysed in other cancer entities than hepatocellular carcinoma (HCC). We here investigated the frequency of these gene polymorphisms among HCC patients. Materials and Methods: A total of 73 HCC patients and 117 cancer-free healthy people were recruited at the Surgical Department of Zhongshan Hospital. Genomic DNA was isolated from peripheral blood and gene polymorphisms were analyzed by PCR-RFLP. Results: The distribution of EGF $61^*G$/G homozygotes among HCC patients was more frequent than that in the control group (24.7% vs 11.1%, OR=2.618, 95%CI=1.195-5.738). In parallel, the frequency of the "G" allele in the HCC patient group was also higher than that in the control group (45.9% vs 33.3%, OR= 1.696, 95%CI=1.110-2.592). No difference could be found for the TGF-${\beta}1$-509 and TNF-${\alpha}$-308 genotypes. Conclusion: EGF $61^*G$/G genotype and G allele are significantly increased among patients with HCC. TGF-${\beta}1$-$509^*T$/C and TNF-${\alpha}$-$308^*A$/G gene polymorphisms are not related to this cancer entity.

The XRCC1 Arg399Gln Gene Polymorphism and Risk of Colorectal Cancer: a Study in Kashmir

  • Khan, Nighat Parveen;Pandith, Arshad Ahmad;Yousuf, Adfar;Khan, Nuzhat Shaheen;Khan, Mosin Saleem;Bhat, Imtiyaz Ahmad;Nazir, Zahoor Wani;Wani, Khursheed Alam;Hussain, Mahboob Ul;Mudassar, Syed
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.11
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    • pp.6779-6782
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    • 2013
  • Background: The DNA repair gene XRCC1 Arg399Gln gene polymorphism has been found to be implicated in the development of various cancers, including colorectal cancer (CRC), in different populations. We aimed to determine any association of this polymorphism with the risk of CRC in Kashmir. Materials and Methods: A total of 120 confirmed cases of CRC and 146 healthy cancer free controls from the Kashmiri population were included in this study. Genotyping was carried out by the polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) method. Results: Genotype frequencies of XRCC1 Arg399Gln observed in controls were 34.2%, 42.5% and 23.3% for GG (Arg/Arg), GA (Arg/Gln), AA( Gln/Gln), respectively, and 28.3%, 66.7% and 5% in cases, with an odds ratio (OR)=5.7 and 95% confidence interval (CI) =2.3-14.1 (p=0.0001). No significant association of Arg399Gln SNP with any clinicopathological parameters of CRC was found. Conclusions: We found the protective role of 399Gln allele against risk to the development of CRC. The XRCC1 heterozygote status appears to be a strong risk factor for CRC development in the Kashmiri population.