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Angiotensin-Converting Enzyme Gene Polymorphism is not Associated with Myocardial Infarction in Koreans

  • Chai, Seok;Sohn, Dong-Ryul
    • The Korean Journal of Physiology and Pharmacology
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    • v.2 no.5
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    • pp.645-650
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    • 1998
  • To assess the relationship between angiotensin-converting enzyme (ACE) gene polymorphism and myocardial infarction in Koreans, we recruited 112 healthy, unrelated subjects (mean age 53.4 years) and 104 myocardial infarction survivors (mean age 54.2 years) of both sexes. An insertion/deletion (I/D) polymorphism of the ACE gene was typed by polymerase chain reaction. The I allelic frequency of ACE gene in Korean subjects was irrelavant to myocardial infarction (patients, 65 control subjects 66%), as was true with the D allele. When compared with other populations, the frequency of D allele in Koreans (0.34) was lower than that in Caucasians, and was close to that of other Oriental populations. The data suggest that the ACE gene polymorphism is not an independent genetic risk factor for myocardial infarction in Koreans.

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A Single Nucleotide Polymorphism in Transforming Growth Factor-$\beta$ type II Receptor of the Rat

  • Ryu, Doug-Young
    • Toxicological Research
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    • v.16 no.1
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    • pp.59-61
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    • 2000
  • A single nucleotide polymorphism in the transforming growth factor-$\beta$ type II receptor (TGE$\beta$RII) gene of the rat was studied. TGF$\beta$RII is a tumor suppressor that is frequently inactivated by mutation in human colon cancers. A novel nucleotide polymorphism of G to A(or A to G), which causes a silent mutation at codon 129, was found in G:C rich sequence in the TGF$\beta$RII gene of Sprague-Dawley rats. The results suggest that genetic polymorphism occures without a strain of the laboratory animal.

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An Association Study of COMT Gene Polymorphism with Korean Schizophrenics (정신분열병과 Catechol-O-methyltransferase(COMT) 유전자 다형성의 연합)

  • Song, En-Sook;Yang, Byung-Hwan;Park, Kang-Kyu;Lee, Yu-Sang;An, Eun-Soog;Oh, Dong-Yul;Kim, Jong-Won;Choi, Ihn-Geun;Kim, Gil-Sook;Chai, Young-Gyu
    • Korean Journal of Biological Psychiatry
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    • v.5 no.2
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    • pp.210-214
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    • 1998
  • An association study with Korean schizophrenic patients(N=84) and normal controls(N=87) was performed to find the relationship between catechol-O-methyltransferase(COMT) gene polymorphism and schizophrenia using polymerase chain reaction-restriction fragment length polymorphism. When we compared the allele and genotype frequencies of Bgl I COMT gene polymorphism in schizophrenics and normal controls, there was no significant difference between two groups. Our results do not support an association between the Bgl I polymorphism of COMT gene and schizophrenia.

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An Association Study of the Brain-Derived Neurotrophic Factor Val66Met Gene Polymorphism and Schizophrenia (Brain-Derived Neurotrophic Factor Val66Met 다형성과 정신분열병의 관련 연구)

  • Lee, Hwa-Young;Kim, Dae-Jin;Kim, Yong-Ku
    • Korean Journal of Biological Psychiatry
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    • v.13 no.4
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    • pp.267-272
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    • 2006
  • Objectives : Schizophrenia is a clinically heterogenous disease with a strong genetic component. Many studies have suggested that brain-derived neurotrophic factor(BDNF) is involved in the pathophysiology of schizophrenia. This study was performed to determine whether there is an association between BDNF Val66Met polymorphism and schizophrenia. Methods : To identify any genetic predisposition to schizophrenia, we investigated the BDNF Val66Met polymorphism in 106 patients with schizophrenia and 147 normal controls with PCR-RFLP method. Statistical analyses were used to test the association between and BDNF Val66Met genotype and Schizophrenia. Results : No association was found between BDNF Val66Met polymorphism and schizophrenia. No significant differences were found comparing the BDNF genotype distributions according to the age of onset, the number of admission and familial loading in schizophrenia. Conclusion : This result indicates that BDNF Val66Met polymorphism is not associated with schizophrenia. However, further studies with a large number of subjects are needed to confirm whether the BDNF gene is related to schizophrenia.

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Genetic Polymorphism of the Angiotensin Converting Enzyme Gene among Korean Golfers

  • Kim, Chong-Ho;Park, Sang-Ho;Kim, Eun-Sook
    • Korean Journal of Clinical Laboratory Science
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    • v.43 no.2
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    • pp.43-47
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    • 2011
  • Angiotensin converting enzyme (ACE) is a vital enzyme in the renin-angiotensin-aldosterone system, and there are literature reports describing its relationship between the ACE polymorphism and muscular strength, muscular endurance and flexibility. The purpose of this study is to identify the distribution of the ACE gene polymorphism among individual golfers and the relationship between different golfers group. We analyzed the ACE gene polymorphism to study the individual differences among professional golfers (n=35), junior golfers (n=30) and general golfers (n=25). Genotype frequencies of DD, ID and II in total golfers (n=90) were 16.7%, 52.2% and 31.1% respectively. In professional golfers, the frequencies of DD, ID and II were 25.7%, 45.7% and 28.6% respectively. The frequency of DD genotype in professional golfers was higher than in junior golfers and in general golfers, but the II genotype in professional golfers was lower than in other groups. In conclusion, these data suggest that the capability and power of golf exercise are associated with the hereditary characteristics of the ACE polymorphism.

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Study on Biochemical Parameters and Body Fat Mass according to Leptin Receptor Polymorphism in University Students (렙틴 수용체 유전자 다형성에 따른 대학생의 생화학 지표와 체지방 분포에 관한 연구)

  • Kim, Kyung-Hee;Cho, Hee-Sook
    • Journal of the East Asian Society of Dietary Life
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    • v.22 no.2
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    • pp.219-223
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    • 2012
  • The purpose of this study was to investigate the body composition, biochemical parameters, and consumption of convenience foods according to leptin receptor polymorphism in university students. A survey was conducted on a total of 418 students - 271 males and 147 females. Based on a self-reporting method, questionnaires were administered for over 20 minutes, and leptin receptor and blood samples were analyzed. The genotype frequencies of leptin receptor polymorphism were Gln/Arg heterozygote (64.8%) and Gln/Gln homozygote (35.2%). Leptin polymormphism showed no significant association with biochemical parameters(ALT, cholesterol, triglyceride, HDL-cholesterol, LDL-cholesterol, and hemoglobin) and body composition. GG homozygote was associated with a higher risk of visceral fat obesity compared to those with GA heterozygote (odd ratio 1.758, 95% confidence intervals 0.812~3.803). Leptin polymorphism appeared to be a genetic risk factor for visceral fat obesity. This study suggests that leptin polymorphism has a causative role to body fat distribution in Korean.

Effect of Alpha-lactalbumin Gene Polymorphism on Milk Production Traits in Water Buffalo

  • Dayal, S.;Bhattacharya, T.K.;Vohra, V.;Kumar, P.;Sharma, Arjava
    • Asian-Australasian Journal of Animal Sciences
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    • v.19 no.3
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    • pp.305-308
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    • 2006
  • A genetic study was conducted to elucidate the effect of alpha-Lactalbumin (${\alpha}$-LA) gene polymorphism on milk production traits involving total milk yield and daily milk yield during first lactation in two breeds of water buffaloes namely, Murrah and Bhadawari. Single strand conformation polymorphism (SSCP) was carried out to explore genetic polymorphism present at this locus. For this study, exon 1 region of ${\alpha}$-LA was analyzed. Finally, polymorphism data was associated with milk production traits by employing least square analysis. In Murrah buffalo, five genotypes such as AB, BB, BC, CC and CD and four alleles A, B, C and D were detected whereas in Bhadawari buffalo two genotypes namely, AB and BC and three alleles namely, A, B and C were found. Genotypes showed significant effects ($p{\leq}0.05$) on total milk yield and daily milk yield in Bhadawari buffalo but had non-significant effects on these traits in Murrah buffalo.

Insertion/Deletion Polymorphism of the Angiotensin Converting Enzyme Gene in Coronary Artery Disease in Southern Turkey

  • Acarturk, Esmeray;Attila, Gulen;Bozkurt, Abdi;Akpinar, Onur;Matyar, Selcuk;Seydaoglu, Gulsah
    • BMB Reports
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    • v.38 no.4
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    • pp.486-490
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    • 2005
  • Genetic factors are important in the pathogenesis of coronary artery disease (CAD). Angiotensin converting enzyme (ACE) gene insertion(I)/deletion(D) polymorphism is one of the genetic factor found to be related with CAD. We investigated the association between I/D polymorphism of the ACE gene and the presence of CAD. Threehundred and seven patients (187 males and 120 females, aged between 35-80, mean $54.3{\pm}9.8$ years) who underwent diagnostic coronary angiography were included in the study. ACE I/D polymorphism was detected by polymerase chain reaction. Of the 307, 176 had CAD. The most frequently observed genotype in all subjects was ID (47.9 %). However, in patients with CAD the frequency of II genotype was lower whereas DD genotype was higher compared to the controls (p < 0.05). The number of D allele carrying subjects were also higher (p < 0.05) in CAD patients. The logistic regression analysis indicated that the ACE D allele is an independent risk factor (odds ratio = 1.48, 95% CI = 1.01-2.18, p < 0.05). In conclusion, the I/D polymorphism of ACE gene (carrying D allele) is an independent risk factor for CAD in the studied Turkish population.

Impact of the Copper Transporter Protein 1 (CTR1) Polymorphism on Adverse Events among Advanced Non-Small Cell Lung Cancer Patients Treated with Carboplatin-Gemcitabine Regimen

  • Kumpiro, Siriluk;Sriuranpong, Virote;Areepium, Nutthada
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.9
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    • pp.4391-4394
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    • 2016
  • Background: Platinum-based regimens are effective treatments for advanced non-small cell lung cancer (NSCLC), but the five-year survival rate is still less than 20%. One possible factor appears to be resistance involving polymorphisms in the CTR1 gene which plays an importance role in accumulation of platinum in the cytoplasm. Purpose: To establish both prevalence of CTR1 polymorphism and its impact on treatment related toxicity in Thai advanced NSCLC patients. Materials and Methods: Thirty-two advanced NSCLC participants received carboplatin and gemcitabine during January to June 2016 at King Chulalongkorn Memorial Hospital (KCMH) were recruited for analysis of the CTR1 rs12686377 genotype. These participants were planning to be treated with platinum-based chemotherapy for at least two cycles. Results: Allele frequency of CTR1 polymorphism $G{\rightarrow}T$ was found to be 25%. The results showed that genetic polymorphism at CTR1 rs12686377 was associated with emesis side effects (P = 0.020) and neuropathic symptoms (P = 0.010). In addition, hematologic side effects in terms of anemia also tended to be related to this polymorphism. Conclusions: This is the first study suggesting that polymorphism at CTR1 rs12686377 may be associated with toxicity from platinum-based regimens. Therefore, it could be a factor to aid in treatment decision-making.