• Title/Summary/Keyword: deletion polymorphism

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Polymorphisms of Angiotensin-converting Enzyme Gene Associated in Patients with COPD with or without Bronchial Hyperresponsiveness (만성폐쇄성폐질환에서 ACE 유전자 다형성과 기관지 과민성의 연관성)

  • Kim, Seung Soo;Choi, Eu Gene;Park, Seoung Ju;Lee, Heung Bum;Lee, Yong Chul;Rhee, Yang Keun
    • Tuberculosis and Respiratory Diseases
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    • v.58 no.1
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    • pp.25-30
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    • 2005
  • Background : An insertion-deletion polymorphism of angiotensin converting enzyme (ACE) gene has been shown to be associated with enzyme activity levels of ACE. Reported results that have been mutually contradictory about asthmatic hypersensitiveness and occurrence according to ACE gene insertion (I)/deletion (D) polymorphism. Also, the involvement of the ACE genes as the genetic basis of bronchial asthma is currently controversy. We investigated whether there was any association between polymorphisms of the ACE genes and airway hyper-responsiveness in chronic obstructive pulmonary disease (COPD). Methods : A total of 100 patients with COPD were enrolled in this study. The ACE genotypes were determined in all subjects by polymerase chain reaction. Pulmonary function test including bronchodilator response (BDR), methacholine bronchial provocation test (MBPT) were done in those patients. Airway hyper-responsiveness include any findings of positive BDR or MBPT. Results : In COPD patients, the ACE genotype distribution did not differ significantly among groups of patients with severities of COPD, and with or without airway hyper-responsiveness. Conclusions : These results suggest that polymorphisms of the ACE gene may not be associated with airway hyper-responsiveness, development and severity of COPD.

Analysis of polymorphic regions of Plasmodium vivax Duffy binding protein of Korean isolates

  • Kho, Weon-Gyu;Chung, Joon-Yong;Sim, Eun-Jeong;Kim, Dong-Wook;Chung, Woo-Chul
    • Parasites, Hosts and Diseases
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    • v.39 no.2
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    • pp.143-150
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    • 2001
  • The present study was designed to investigate polymorphism in Duffy binding protein (DBP) gene of Plasmodium vivax isolates of Korea. Thirty samples were obtained from P. vivax patients in Yonchon-gun, Kyonggi-do in 1998. The PCR products of the samples were subjected to sequencing and hybridization analyses of the regions II and IV of P. vivax DBP gene. Two genotypes, SK-1 and SK-2, were identified on the basis of amino acid substitution and deletion. The genotype of 10 isolates was SK-1 and that of 20 isolates was SK-2. Most of the predicted amino acids in the region ll of DBP gene were conserved between the Korean isolates and Belem strain except for 4-5 amino acid substitutions. In the region W of DBP, a 6-bp insert that was shown in the Sal-1 allele type was found in SK-1, and a 27-bp insert that was shown in the Papua New Guinea allele type was found in SK-2. In conclusion, the present findings suggest that two genotypes of P. vivax coexist in the endemic area of Korea.

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Lack of Assocation of Glutathione S-transferase T1 Gene Null and Susceptibility to Lung Cancer in China: a Meta-analysis

  • Liu, Hong-Zhou;Peng, Jie;Zheng, Fang;Wang, Chun-Hong;Han, Ming-Jun
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.12
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    • pp.7215-7219
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    • 2013
  • Background: Variation in metabolic genes is regarded as an important factor in processes leading to cancer. However, the effect of GSTT1 null genotype is divergent in the form of lung cancer. Methods: Studies were conducted at different research databases from 1990 to 2013 and the total odds ratio (OR) and 95% confidence interval (CI) were calculated for lung cancer. Review Manager 5.2 and STATE 12 are employed. Results: Total OR value is calculated from 17 articles with 2,118 cases and 2,915 controls. We discovered no significant increase in lung cancer risk among subjects carrying GSTT1 null genotype [OR = 1.15; 95% CI 0.97-1.36] in this meta-analysis. Conclusion: The GSTT1 deletion polymorphism does not have a significant effect on the susceptibility to lung cancer overall in China.

Total Cholesterol and Alkaline Phosphatase are Increased in D/D Type of Angiotensin Converting Enzyme

  • Kim, Sung-Su
    • Biomedical Science Letters
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    • v.18 no.4
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    • pp.406-412
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    • 2012
  • The polymorphism (insertion, I or deletion, D) of angiotensin converting enzyme (ACE) gene is designated as the presence of a 287 bp Alu repeat. The D/D homozygote carrier is associated with high ACE activity, and this high activity has been implicated with hypertension, coronary artery disease, or diabetic nephropathy. We studied the clinical candidate marker in ACE gene polymorphism using chemical and hematological analysis. The subjects are divided into normotensive and hypertensive groups and ACE genotype in the group was confirmed by PCR method. Chemical analysis was preceded with Hitachi7060, and hematological analysis was performed using Mythic 22. In 116 targeted people, 17 (38.64%) of 44 I/I genotype group are hypertension, 15 (34.09%) in 44 with D/I, but, D/D type in the 28 cases is 15 patients (53.57%) in hypertension. In hypertension group, biochemical analysis (triglyceride, and alkaline phosphatase) and hematological analysis (white blood cell, platelet) are showed high value in D/D genotype of ACE gene. The relationship between hypertension and ACE genotype is the same results as previously reported and we thought that the high laboratory value of white blood cell, platelet, triglycerides, and alkaline phosphatase are also indicator of hypertension in D/D type of ACE.

The Effect of Angiotensin Converting Enzyme Gene Polymorphism in Children with Henoch-Schonlein Purpura Nephritis (Henoch-Schonlein Purpura 신염에서 안지오텐신 전환효소 유전자 다형성의 영향)

  • Ha, Chang Woo;Kim, Ji Young;Lee, Jeong Nyeo;Lee, Jeong Hwa;Chung, Woo Yeong
    • Clinical and Experimental Pediatrics
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    • v.45 no.7
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    • pp.884-890
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    • 2002
  • Purpose : Henoch-Schonlein purpura(HSP) nephritis has been reported to vary from 25 to 50% among HSP patients and is a common cause of chronic glomerulonephritis in children. In our study, we evaluated the distribution and the association of the Insertion/Deletion(I/D) polymorphism of angiotensin converting enzyme(ACE) gene with clinical manifestations, particularly proteinuria in children with HSP nephritis, compared with that in HSP. Methods : ACE gene polymorphism was determined in children with HSP nephritis(n=33) and HSP(n=28) who were diagnosed in Busan Paik hospital from January 1996 to June 2001. The I/D polymorphism of ACE gene was determined by PCR amplication of genomic DNA. Results : The ACE I/D genotype frequency was DD : 25%, ID : 50%, II : 25% in HSP and DD : 24 %, ID : 46%, II : 30% in HSP nephritis, there was no significant difference in the genotype and allele frequencies between two groups. When statistical analysis was done according to the presence of D allele, the amount of 24-hour urinary protein excretion and the incidence of moderate to heavy proteinuria(>$500mg/m^2/day$) at onset and last follow-up were higher in DD/ID genotype than in those in II genotype, but these differences were not statistically significant. Conclusion : We suggest a lack of association between I/D polymorphism of ACE gene and clinical manifestations in children with HSP nephritis. However, further follow-up studies based on a sufficient number of patients and long term follow up periods are necessary to confirm the role of I/D polymorphism of ACE gene in children with HSP nephritis.

CCR5 Polymorphism as a Protective Factor for Hepatocellular Carcinoma in Hepatitis B Virus-Infected Iranian Patients

  • Abdolmohammadi, Reza;Azar, Saleh Shahbazi;Khosravi, Ayyoob;Shahbazi, Majid
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.10
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    • pp.4643-4646
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    • 2016
  • The CC chemokine receptor 5 (CCR5) delta 32 allele results in a nonfunctional form of the chemokine receptor and has been implicated in a variety of immune-mediated diseases. $CCR5{\Delta}32$ may also predispose one to chronic liver disease or be linked with resistance to HBV infection. This study was undertaken to investigate any association between CCR5 polymorphism with resistance to hepatitis B or susceptibility to HBV infection. A total of 812 Iranian individuals were enrolled into two groups: HBV infected cases (n=357), who were HBsAg-positive, and healthy controls (n=455). We assessed polymorphisms in the CCR5 gene using specific CCR5 oligonucleotide primers surrounding the breakpoint deletion. Genotype distributions of the HBV infected cases and healthy controls were determined and compared. The CCR5/CCR5 (WW) and $CCR5/CCR5{\Delta}32$ (W/D) genotypes were found in (98%) and (2%) of HBV infected cases, respectively. The $CCR5{\Delta}32/{\Delta}32$genotype was not found in HBV infected cases. Genotype distributions of CCR5 in healthy controls were W/W genotype in (87.3%), W/D genotype in (11.2%) and D/D genotype in (1.5%). Heterozygosity for $CCR5/CCR5{\Delta}32$ (W/D) in healthy controls was greater than in HBV infected cases (11.2% vs 2%, p < 0.001). W/D and D/D genotypes were more prominent in healthy controls than in HBV infected cases. This study provides evidence that the $CCR5{\Delta}32$ polymorphism may have a protective effect in resistance to HBV infection at least in the Iranian population.

Glutathione S-transferase T1, M1 and P1 Genetic Polymorphisms and Susceptibility to Colorectal Cancer in Turkey

  • Gorukmez, Ozlem;Yakut, Tahsin;Gorukmez, Orhan;Sag, Sebnem Ozemri;Topak, Ali;Sahinturk, Serdar;Kanat, Ozkan
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.8
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    • pp.3855-3859
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    • 2016
  • Colorectal cancer (CRC) is reproted to be the third most common cancer worldwide and the fourth most common cause of cancer related deaths. CRC is considered to be a multifactorial disease whose risk varies due to the complex interaction between individual genetic basis and disposure to multiple endogenous factors. Glutathione S-transferases are pro-carcinogenic in CRC and are required for the conjugation between chemotherapeutics and broad spectrum xenobiotics. One hundred and eleven patients with CRC and 128 control subjects without any cancer history were enrolled in this study. Multiplex PCR was applied to determine polymorphisms for the GSTT1 and M1 genes, and PCR-RFLP was applied for the GSTP1 (Ile105Val) gene polymorphism. Values p<0.05 were defined as statistically significant. We detected a significant high correlation between predisposition for CRC and presence of the Ile/Ile genotype of the GSTP1 (IIe105Val) gene polymorphism, but we did not find a significant relationship between predisposition for CRC and GSTT1 and M1 deletion polymorphisms. In addition, we did not determine a relationship between GSTT1, M1 and P1 gene polymorphisms and any clinicopathological features of CRC. GSTT1 null/GSTM1 positive and GSTT1 null/GSTM1 positive/GSTP1 Ile/Ile genotypes were significantly higher in the patient group. Our results revealed that there is no relationship among CRC, its clinicopathologic features, and GSTT1 M1 gene polymorphisms. However, there was a significant correlation between CRC and the GSTP1 Ile/Ile genotype. Further studies with larger patient groups are required to delineate the relationships between GST gene polymorphisms and the clinicopathologic features of CRC in Turkey.

GSTT1 null and MPO -463G>A Polymorphisms and Carboplatin Toxicity in an Indian Population

  • Bag, Arundhati;Pant, Nirdosh Kumar;Jeena, Lalit Mohan;Bag, Niladri;Jyala, Narayan Singh
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.8
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    • pp.4739-4742
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    • 2013
  • Carboplatin, a second generation platinum drug, is widely used to treat different types of cancers. However, myelosuppression remains a major consideration in its use. Genetic polymorphisms of enzymes involved in drug disposition can influence therapeutic outcome. The homozygous null deletion of phase II metabolic gene GSTT1 that abolishes its xenobiotic- detoxifying ability may be associated with carboplatin toxicity. Further, since carboplatin generates oxidative stress, polymorphisms of oxidative stress genes that regulate the cellular level of free radicals may have important roles in generating drug- related adverse effects. We here investigated the null polymorphism of GSTT1, and the -463G>A promoter polymorphism of oxidative stress gene myeloperoxidase (MPO) for carboplatin toxicity in a population of northern India. Cancer patients who were treated with carboplatin, and developed toxicity was considered. The study group comprised of 10 patients who developed therapy- related adverse effects. Peripheral blood was taken from patients for DNA isolation. GSTT1 null genotype was determined by conducting duplex PCR and MPO-463 G>A was determined by PCR followed by RFLP. Hematologic toxicity was experienced by 5 patients, 2 of them had grade 3 and 4 toxicity and 3 others had grade 2 toxicity. They also had gastrointestinal (GI) toxicity. Remaining 5 individuals developed GI toxicity but no hematological toxicity. While GG homozygous of MPO was present in majority of patients having hematologic toxicity (in 4 out of 5 individuals), one A allele (AG genotype) was present in 4 patients who did not have any hematological toxicity. Thus variant A allele of MPO -463G>A may be related to lower hematological toxicity. These preliminary data, however, are required to be confirmed in larger studies along with other relevant polymorphisms.

Associations of CYP1A1, GSTM1 and GSTT1 Polymorphisms with Lung Cancer Susceptibility in a Northern Indian Population

  • Shukla, R.K.;Tilak, A.R.;Kumar, C.;Kant, S.;Kumar, A.;Mittal, B.;Bhattacharya, S.
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.5
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    • pp.3345-3349
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    • 2013
  • Background: Susceptibility to lung cancer has been shown to be modulated by inheritance of polymorphic genes encoding cytochrome P450 1A1 (CYP1A1) and glutathione S transferases (GSTM1 and GSTT1), which are involved in the bioactivation and detoxification of environmental toxins. This might be a factor in the variation in lung cancer incidence with ethnicity. Materials and Methods: We conducted a case-control study of 218 northern Indian lung cancer patients along with 238 healthy controls, to assess any association between CYP1A1, GSTM1 and GSTT1 polymorphisms, either separately or in combination, with the likelihood of development of Lung cancer in our population. Results: We observed a significant difference in the GSTT1 null deletion frequency in this population when compared with other populations (OR=1.87, 95%CI: 1.25-2.80-0.73, P=0.002). However, GSTM1 null genotype was found associated with lung cancer in the non-smoking subgroup. (P=0.170). Conclusions: Our study showed the GSTT1 null polymorphism to be associated with smoking-induced lung cancer and the GSTM1 null polymorphism to have a link with non-smoking related lung cancer.

Comparisons of UCP2 Polymorphism, Dietary Habits, and Obesity Index in Normal and Obese University Students (정상체중과 비만인 대학생의 UCP 2 유전자 다형성, 식습관, 비만도 및 체성분의 비교 연구)

  • Ahn, Myoung-Soo;Chang, In-Youb;Kim, Kyung-Hee
    • Journal of the Korean Society of Food Culture
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    • v.22 no.4
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    • pp.404-413
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    • 2007
  • This study was carried out to compare UCP2 polymorphism, dietary habits, and obesity index in normal and obese university students. The survey was carried out using self-questionnaires collected from the 126 normal and 60 obese university students. The results are summarized as follows. Breakfast was skipped in 43.7% of normal and 49.3% of obesity students and it appeared obese students eat faster than normal students. The percentage of weight control experience were 49.2 and 71.0 in the normal and obese students, respectively. Blood levels of lipid profiles(triglyceride, LDL cholesterol, and HDL cholesterol), hemoglobin, AST and ALT were anaylzed. In UCP2 genes, the frequency of deletion homozygote(DD) was 71.5%, heterozygote(DI) was 26.9% and insertion homozygote(II) was 1.6%. Plasma levels of triglyceride, total cholesterol, LDL cholesterol, and HDL cholesterol of normal students were 79.06, 172.25, 100.86 and 57.03 mg/dl, and those of obese students were 93.06, 173.22, 101.22 and 54.39 mg/dl, respectively. Blood parameters were in normal range in both group. Plasma triglyceride, total cholesterol and LDL cholesterol levels of obese students were higher than those of normal students. On the other hand, plasma HDL cholesterol levels of obese students were lower than those of normal students. Plasma levels of AST and ALT were in normal range in both group. However, AST and ALT levels of obese students were higher than that of normal students. Thus, it was recommended for them to have a nutritional education program to improve their dietary and living habits for obese students’health. Nutritional education program should also be organized practically and systematically.