• Title/Summary/Keyword: Factor Ⅶ and RFLP

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The Polymorphism of Hypoxia-inducible Factor-1a Gene in Endometrial Cancer

  • Kafshdooz, Leila;Tabrizi, Ali Dastranj;Mohaddes, Seyyed Mojtaba;Kafshdooz, Tayebeh;Akbarzadeh, Abolfazl;Ghojazadeh, Morteza;Gharesouran, Jalal
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.23
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    • pp.10393-10396
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    • 2015
  • Background: Endometral carcinoma is the most common malignant tumor of the female genital tract and the fourth most common cancer in women after breast, colorectal and lung cancers Hypoxia-inducible factor-1 (HIF-1) is a key transcription factor that regulates cellular response to hypoxia HIF-1 plays important roles in the development and progression of cancer through activation of various genes that are involved in crucial aspects of cancer biology, including angiogenesis, energy metabolism, vasomotor function, erythropoiesis, and cell survival. In this study, we aimed to investigate the association between HIF-1 1772 C/T polymorphisms and endometrial cancer. Materials and Methods: 75 patients with endometrial carcinoma and 75 patients whose underwent hysterectomy for non tumoral indication selected for evaluation of HIF-1 1772 C/T polymorphisms by PCR-RFLP and sequencing. Results: For the 1772 C/T polymorphism, the analysis showed that the T allele and genotype TT were significantly associated with endometrial cancer risk. Conclusions: Our results suggest that the C1772T polymorphism of the HIF-1a may be associated with endometrial cancers.

Promoter -202 A/C Polymorphism of Insulin-like Growth Factor Binding Protein-3 Gene and Non-small Cell Lung Cancer Risk (인슐린양 성장 인자 결합 단백-3 유전자 -202 좌위의 다형성에 따른 비소세포폐암의 위험도)

  • Moon, Jin Wook;Chang, Yoon Soo;Han, Chang Hoon;Kang, Shin Myung;Park, Moo Suk;Byun, Min Kwang;Chung, Wou Young;Park, Jae Jun;Yoo, Kyeong Nam;Shin, Ju Hye;Kim, Young Sam;Chang, Joon;Kim, Sung Kyu;Kim, Hee Jung;Kim, Se Kyu
    • Tuberculosis and Respiratory Diseases
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    • v.58 no.4
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    • pp.359-366
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    • 2005
  • Background : IGFBP-3 inhibits the mitogenic and anti-apoptotic activity of IGF by blocking the binding of IGF to its receptor. However, under certain circumstances, IGFBP-3 can enhance the activity of IGF by protecting IGF from its degradation. More than half of the interindividual variations in IGFBP-3 levels are known to be genetically determined by the polymorphism at -202 locus of IGFBP-3 gene. Method : We attempted to ascertain whether A-202C polymorphic variation of IGFBP-3 gene constitutes a risk factor for non-small cell lung cancer (NSCLC), using PCR-restriction fragment length polymorphism (RFLP). Our study included 104 NSCLC patients and 104 age-, gender-, and smoking status-matched control subjects. Result : In the 104 NSCLC subjects, the genotypic frequencies at the -202 site were as follows: AA = 67 (64.4%), AC = 35 (33.7%), and CC = 2 (1.9%). We did detect significant differences in the genotypic distribution between the NSCLC and the control subjects (p<0.05), and the NSCLC risk correlated significantly with AA genotype at the -202 locus (AA>AC>CC). Using CC genotype as a reference, the odds ratio (OR) for the subjects with AC genotype was 2.60 (95% CI: 0.89 - 8.60), and the OR associated with AA genotype was 5.89 (95% CI: 1.92 - 21.16). Conclusion : These results indicate that the dysregulation of IGF axis should now be considered as another important risk factor for NSCLC, and a potential target for novel antineoplastic therapies and/or preventative strategies in high-risk groups.

The Case-Control Studies Between The Single Nucleotide Polymorphisms of the Human SA and MTHFR Gene and Hypertension in Korean Population

  • Kang, Byung-Yong;Bae, Joon-Seol;Kim, Ki-Tae;Lee, Kang-Oh;Kang, Chin-Yang;Chung, Ki-Wa;Oh, Sang-Duk
    • Environmental Mutagens and Carcinogens
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    • v.22 no.3
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    • pp.157-163
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    • 2002
  • The role of the kidney in initiating hypertension has been much debated. The SA gene is expressed in the kidney and is association with hypertension in man and in experimental animal models. Also, increased plasma concentrations of homocysteine have been found in patients with coronary artery disease (CAD) and hypertension. The genetic variation of methlene tetrahydrofolate reductase (MTHFR) gene is related to its enzyme activity and to the plasma homocysteine concentration. In view of the effect of SA and MTHFR as risk factor for cardiovascular diseases, we investigated the Pst I RFLP of the SA gene and C667T mutation of the MTHFR gene in the Korean patients with hypertension. There were no significant differences in the allele and genotype frequencies of these polymorphisms between normotensive and hypertensive subjects. Therefore, our results do not support a possible role of these genes on hypertension in Korean population.

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Lack of Association between the MTHFR C677T Polymorphism and Lung Cancer in a Turkish Population

  • Yilmaz, Meral;Kacan, Turgut;Sari, Ismail;Kilickap, Saadettin
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.15
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    • pp.6333-6337
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    • 2014
  • Background: In this case-control study, we aimed to investigate the relationship between the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and lung cancer. Materials and Methods: Total 200 individuals including 100 patients with lung cancer and 100 controls were analyzed. Genotyping of MTHFR C677T was performed using PCR and RFLP methods. Results: The majority of the patients were men and 90% were smokers. We found that the risk ratio for development of LC was 13-times higher in smokers compared with non-smokers between patient and control groups in our study (OR:13.5, 95%CI:6.27-29.04, p:0.0001). Besides, the risk ratio for development of LC was nine times higher in individuals with cancer history in their family than those without cancer history (OR:9.65, 95%CI: 2.79-33.36; p:0.0001). When genotype distributions and allele frequencies were analyzed in the study groups, no significant difference was apparent (${\chi}^2$:0.53, p=0.76). In addition, no correlation between genotypes of MTHFRC677T polymorphism and histological type of LC was found (${\chi}^2$:0.99, p=0.60). Conclusions: These results suggest that there was no association between the MTHFR C677T polymorphism and lung cancer in the Turkish population.

Equivocal Association of RAD51 Polymorphisms with Risk of Esophageal Squamous Cell Carcinoma in a Chinese Population

  • Zhang, Shu-Xiang;Yang, Shan;Xu, Chang-Qing;Hou, Rui-Ping;Zhang, Chuan-Zhen;Xu, Cui-Ping
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.2
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    • pp.763-767
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    • 2014
  • Aim: To study the contribution of genetic variation in RAD51 to risk of esophageal squamous cell carcinoma (ESCC). Methods: Three single nucleotide polymorphisms (SNPs) in RAD51 (rs1801320, rs4144242 and rs4417527) were genotyped in 316 ESCC patients and 316 healthy controls in Anyang area of China using PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism). Demographic variables between cases and controls were statistically compared by T test and Chi-square test. Hardy-Weinberg equilibrium was evaluated by the Chi-square test. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to measure any association with ESCC. Haplotype frequencies were estimated by Phase 2.1. Result: The genotype frequencies of rs1801320, rs4144242 and rs4417527 in patients with ESCC demonstrated no significant differences from those in control group (P>0.05). When the haplotypes of these three SNPs were constructed and their relationships with ESCC risk investigated, however, CGG was observed to increase the risk (P=0.020, OR=2.289). Conclusions: There was no association between the three SNPs of RAD51 and ESCC susceptibility in our Chinese population. However, the CGG haplotype might be a risk factor.

Association Study between the Genetic Variations of the Apo AI-CIII-AIV Gene Cluster and Hypertension among Koreans

  • Kang, Byung-Yong;Kang, Chin-Yang;Ki, Tae-Kim;Bae, Joon-Seol;Oh, Sang-Duk;Kim, Jae-Hyun;Lee, Kang-Oh
    • Toxicological Research
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    • v.18 no.4
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    • pp.341-347
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    • 2002
  • Hypertension is a multifactorial disorder in which the genetic and environmental factors are involved. In a view of the effects for hypertension as a risk factor for hypertension, we investigated the genotype and allele frequencies in the four RFLPs of the apo AI-CIII-AIV gene cluster (G to A mutation at position -75 in the apo AI promoter SstI RFLP in the ape CIII gene and HincII and HinfI RFLPs in the apo AIV gene) in the Korean patients with hypertension and normal controls. The AA genotype frequency of the G to A promoter polymorphism in hypertensives was significantly higher than that of normotensives (P < 0.05). None of the other polymorphisms showed a difference in genotype frequency between two groups. Therefore, our result suggest that the G to A promoter polymorphism of the ape AI gene may be useful as genetic marker in the ethiology of hypertension.

Monitoring of Blood Cytokines by PIT-1 Genotypes in Day 150 Male Pigs

  • Yoon, J.;Rhee, M.S.;Seo, D.S.;Kim, B.C.;Ko, Y.
    • Asian-Australasian Journal of Animal Sciences
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    • v.14 no.12
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    • pp.1659-1664
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    • 2001
  • Several studies have been done regarding carcass traits and growth in pigs. Recently, these have progressed to examine increases in economic traits, including meat quality and meat quantity, by using candidate genes. One of them is the pituitary-specific protein PIT-1, a member of the POU (Pit-Oct-Unc) family of transcription factors playing an important regulatory role in developmental processes. In addition, muscle development is known to be regulated in part by growth factors and cytokines locally produced. Therefore, studies were performed to analyze PIT-1 genotypes and serum cytokines (IGF-I, IGF-II, TGF-${\beta}1$, EGF, cortisol, DHEA-S, IL-2, and IL-6) in castrated male pigs for their possible involvement in the development of carcass traits. The genotypes of PIT-1 gene were analyzed by PCR-RFLP with MspI restriction enzyme. But, only CD and DD genotypes, not CC genotype, have been detected. Based on PIT-1 genotyping, a significant difference in EGF expression beween CD type (78.8 ng/ml) and DD type (46.0 ng/ml) was detected (p<0.05), whereas other cytokines did not show any statistical significance depending on PIT-1 genotypes. Collectively, these results suggest the possibility that EGF could affect the formation of carcass traits.

Effects of Alcohol Intake, Genotypes of Aldehyde Dehydrogenase 2 and N-Acetyltransferase 2 on the Development of Laryngeal Cancer in Koreans (한국인의 후두암 발생에서 음주, Aldehyde Dehydrogenase 2(ALDH2)와 N-Acetyltransferase 2(NAT2) 유전자 다형성의 역할)

  • Kwon Soon-Uk;Shim Yoon-Sang;Lee Yong-Sik;Hong Seong-Chool;Kim Kwang-Il;Hong Young-Joon;Hong Seok-Il;Kim Hyun-Joo;Kim Heon;Lee Guk-Haeng
    • Korean Journal of Head & Neck Oncology
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    • v.17 no.2
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    • pp.131-138
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    • 2001
  • Objectives: Alcohol intake has been reported to be a risk factor of laryngeal cancer. Since the aldehyde dehydrogenase 2 (ALDH2) genotype is a major determinant of personal alcohol drinking habit, there is a possibility that ALDH2 genotype would be a risk factor for laryngeal cancer. N-Acetyltransferase 2 (NAT2) is a detoxifying enzyme and its polymorphism has been reported to be related to the risk of many environmental cancers. However, studies on the associations between these two genotypes and laryngeal cancer risk are scarce. We have assessed the effects of alcohol intake and the genotype of ALDH2 and NAT2 on the risk of laryngeal cancer in Koreans. Materials and Methods: Eighty-four pathologically proven laryngeal cancer patients and 168 age matched controls were included as the study subjects. Information about alcohol intake and smoking habit was collected using a self administered questionnaire. ALDH2 and NAT2 genotypes were analyzed using PCR-RFLP methods. Results: Alcohol intake was significant as a risk factor for laryngeal cancer (OR : 2.58, 95% CI : 1.24, 5.36), especially for supraglottic laryngeal cancer (OR : 3.24, 95% CI : 1.02, 10.31). Personal drinking habit was closely related with personal smoking habit, which was a potent risk factor of laryngeal cancer. In a stratified analysis according to the level of cumulative smoking amount, drinking was significant neither in light smokers (equal or less than 30 pack-years) nor in heavy smoker (over 30 pack-years). The ALDH2 genotype was significantly associated with the risk of laryngeal cancer in a univariate analysis. The statistical significance, however, disappeared after adjusting alcohol intake using a multiple conditional logistic model. The NAT2 genotype was not significant as a risk factor for laryngeal cancer. Conclusion: Alcohol drinking and ALDH2 genotype would have indirect effects on laryngeal cancer by their correlations with cigarette smoking or with alcohol drinking. It is less likely that the NAT2 genotype would be a potent risk factor of laryngeal cancer.

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Association of the Myeloperoxidase $^{-463}G{\to}A$ Polymorphism with Helicobacter pylori-induced Atrophic Gastritis

  • Yang, Mie-Rha;Ryu, Hyung-Kyun;Ha, Mi-Na;Nam, Seung-Woo;Roe, Im-Hwan
    • The Korean Journal of Physiology and Pharmacology
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    • v.5 no.3
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    • pp.279-285
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    • 2001
  • Although only a minority of the infected individuals develops atrophic gastritis and the malignancy, factors governing clinical outcomes subsequent to Helicobacter pylori (H. pylori) infection have not yet been defined. H. pylori infection is characterized by extensive infiltration of neutrophils. Myeloperoxidase (MPO) in neutrophils amplifies the oxidative potential of hydrogen peroxides that induce gastric mucosal damage, thus MPO is suspected to play a role in H. pylori-induced gastric injury. Therefore, we explored the association of host MPO genetic polymorphism with atrophic gastritis upon H. pylori infection. Biopsy specimens taken from the gastric mucosa were examined histologically in 87 patients. The PCR-RFLP assay was used to characterize MPO genotypes. The distributions of MPO genotypes were MPO (G/G) 82% and MPO (G/A) 18%. None of MPO (A/A) genotype was observed. A strong positive correlation between the levels of neutrophil infiltration and gastric atrophy found only in MPO (G/G) but not in MPO (G/A) genotype. These results suggest that MPO genotype is a critical determinant in the pathogenesis of atrophic gastritis subsequent to H. pylori infection. Further works need to clarify the functional relevance of MPO genetic polymorphisms on gastric cell injury.

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Loss of Imprinting of Insulin-Like Growth Factor 2 is Associated with Increased Risk of Primary Lung Cancer in the Central China Region

  • Zhang, Ming;Wu, Cui-Huan;Zhu, Xiao-Ling;Wang, You-Jie
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.18
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    • pp.7799-7803
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    • 2014
  • Background: To determine the imprinting status of the IGF2 in Chinese patients with primary lung cancer and to analyze the clinical significance of the loss of imprinting (LOI) of IGF2. Materials and Methods: PCRRFLP and RT-PCR-RFLP were carried out to select heterozygous cases for the ApaI polymorphism within exon 9 of the IGF2 gene and further analyze IGF2 LOI in 64 lung cancer patients, respectively. Results: Of 64 lung cancer patients, 31 were heterozygous for IGF2. The positive rates of IGF2 LOI of lung cancer foci, matched paracancer tissues, and normal lung tissues were 77.4% (24/31), 61.3% (19/31), and 29.0% (9/31), respectively. The LOI differences for IGF2 among the three groups were statistically significant (${\chi}^2=15.267$, p=0.000), and the LOI frequency of IGF2 in normal lung tissue was significantly lower than that in lung cancer foci and paracancer tissues (${\chi}^2=14.577$, p=0.000; ${\chi}^2=6.513$, p=0.011). No statistical difference was observed between the lung tumor group and the matched paracancer group (${\chi}^2=1.897$, p=0.168). The prevalence of advanced clinical stages (${\chi}^2=2.379$; p=0.017) and lymph node metastasis (${\chi}^2=5.552$; p=0.018) was significantly higher for LOI-positive paracancer tissues than for LOI-negative paracancer tissues. Conclusions: IGF2 LOI is highly frequent in Chinese primary lung cancer patients, especially those with increased risk of lymph node metastasis and advanced clinical stages. IGF2 LOI may be an early epigenetic event in human lung carcinogenesis.