• Title/Summary/Keyword: A/B gene polymorphism

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Lack of Association of Glutathione S-transferase M3 Gene Polymorphism with the Susceptibility of Lung Cancer

  • Feng, Xu;Dong, Chun-Qiang;Shi, Jun-Jie;Zhou, Hua-Fu;He, Wei;Zheng, Bao-Shi
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.9
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    • pp.4465-4468
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    • 2012
  • Objective: The conclusions of published reports on the relationship between the glutathione S-transferase M3 (GSTM3) A/B gene polymorphism and the risk of lung cancer are still debated. This meta-analysis was performed to evaluate the association between GSTM3 and the risk of lung cancer. Methods: Association investigations were identified from PubMed, Embase, and Cochrane Library, and eligible studies were included and synthesized using a meta-analysis method. Results: Eight reports were included into this meta-analysis for the association of GSTM3 A/B gene polymorphism and lung cancer susceptibility, covering 1,854 patients with lung cancer and 1,926 controls. No association between the GSTM3 A/B gene polymorphism and lung cancer was found in this meta-analysis (B allele: OR = 1.25, 95% CI: 0.89-1.76, P = 0.20; BB genotype: OR = 1.53, 95% CI: 0.71-3.32, P = 0.28; AA genotype: OR = 0.85, 95% CI: 0.59-1.23, P = 0.39). Conclusions: The GSTM3 A/B gene polymorphism is not associated with lung cancer susceptibility. However, more studies on the relationship between GSTM3 A/B gene polymorphism and the risk of lung cancer should be performed in the future.

Association between Serotonin 2A(T102C) and 1B(G861C) Receptor Gene Polymorphism and Suicidal Attempt with Drug Intoxication in Korean Populations (음독 자살 시도와 세로토닌 수용체 2A(T102C) 및 1B(G861C) 유전자 다형성에 관한 연합연구)

  • Kim, Dong-Hyeon;Kwon, Young-Joon;Kim, Jae-Woo;Shim, Se-Hoon;Jung, Hee-Yeon
    • Korean Journal of Biological Psychiatry
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    • v.11 no.2
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    • pp.110-116
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    • 2004
  • Objectives:Recently, polymorphisms of several serotonin genes have been suggested to be associated with suicide, but the results are still unclear. We examined whether the T102C polymorphisms of the serotonin 2A receptor gene and the G861C polymorphisms of the serotonin 1B receptor gene were associated with suicidal behavior using drug intoxication. Methods:The subjects were 52 patients who visited emergency room with suicidal behaviors. Fifty controls were selected from healthy volunteers matched for sex and age to the suicide subjects. The polymorphisms were analyzed with TaqMan$^{(R)}$ assay using primers based on previous studies. Results:The T102C polymorphism of the serotonin 2A receptor gene showed no significant difference between the suicidal attempters and controls in both genotype and allele frequency analyses(p=0.179 and p=0.422, respectively). There was no statistically significant difference between the suicidal attempters and the controls in the G861C polymorphism of the serotonin 1B receptor gene and any significant effect of the genotype distributions or the allele frequencies was not observed(p=0.092 and p=0.987, respectively). Conclusion:These findings suggest that the T102C polymorphism in serotonin 2A receptor gene and the G861C polymorphism in serotonin 1B receptor gene are not related to the susceptibility to suicide attempts using drugs. To clarify the genetic influences of the serotonergic system on suicidal behavior, the polymorphisms of other candidate genes in the serotonergic system should be studied with larger numbers of subjects.

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A Family-Based and Case-Control Association Study of the Serotonin 1B Receptor Gene Polymorphism in Korean Attention Deficit Hyperactivity Disorder (한국인 주의력결핍 과잉행동장애와 세로토닌 1B 수용체 유전자 다형성의 관련성:가족기반 연구 및 환자-대조군 연구)

  • Park, Tae Won;Kim, Boong Nyun;Im, Myung-Ho;Yoo, Hee Jeong;Kang, Daehee;Chung, Young-Chul
    • Korean Journal of Biological Psychiatry
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    • v.11 no.2
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    • pp.146-154
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    • 2004
  • Objective:Attention deficit hyperactivity disorder(ADHD) is the most common childhood psychiatric disorder, affecting 3-5% of school-aged children. Although the biological basis of ADHD is unknown, family studies provide strong evidence that ADHD has a genetic basis. Recent genetic studies have suggested associations between ADHD and serotonin 1B(5HT1B) receptor gene G861C polymorphism. The aim of this study is to test for the association between ADHD and 5HT1B receptor gene G861C polymorphism in Korean population. Method:We processed DNA extraction and genotyping. 106 Korean children with ADHD and their parents were analyzed using the transmission disequilibrium test(TDT) and haplotype-based haplotype relative risk (HHRR). And the ADHD children were compared with 212 age and gender matched normal controls. Results:There was no statistical difference of distributions between ADHD cases and controls. We did not observe any preferential transmission of alleles of 5HT1B receptor gene G861C polymorphism in ADHD. Conclusions:Though there is the possibility of failing to detect small genetic effects, our results show no evidence of an association between ADHD and 5HT1B receptor gene G861C polymorphism in the Korean population and indicate that it is unlikely that the 5HT1B receptor is implicated in the susceptibility to ADHD.

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Genetic Variation in Exon 3 of Human Apo B mRNA Editing Protein (apobec-1) Gene

  • Hong, Seung-Ho;Song, Jung-Han;Kim, Jin-Q
    • Journal of Genetic Medicine
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    • v.3 no.1
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    • pp.15-19
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    • 1999
  • We have investigated the genetic variation in the human apo B mRNA editing protein (apobec-1) gene. Exon 3 of the apobec-1 gene was amplified by polymerase chain reaction. After detection of an additional band by single strand conformational polymorphism (SSCP) analysis, sequencing of the SSCP-shift sample revealed a single-base mutation. The mutation was a CGG transversion at codon 80 resulting in a lleRMet substitution. This substitution was confirmed by restriction fragment length polymorphism analysis since a Pvull site is abolished by the substitution. Population and family studies confirmed that the inheritance of the genotypes for apobec-1 gene polymorphism is controlled by two codominant alleles (P1 and P2). A significant difference in plasma triglyceride was detected among the different apobec-1 genotypes in the CAD patients (P<0.05). Our study could provide the basis for elucidating the interaction between genetic variation of the apobec-1 gene and disorders related to lipid metabolism.

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Association between the Alleles of the Dopamine $D_1$ Receptor and Schizophrenia (정신분열증환자와 도파민 $D_1$ 수용체 대립유전자 연합)

  • Kim, Jeong Il;Lee, Min Soo;Kwak, Dong Il
    • Korean Journal of Biological Psychiatry
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    • v.4 no.2
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    • pp.218-224
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    • 1997
  • The results regarding an association between the polymorphism sites in the dopamine $D_1$ receptor gene and schizophrenia compelled us to study the distribution of the polymorphism in Korean schizophrenia and controls. Eighty-eight schizophrenic patients and normal controls were examined by case-control study for distribution of the polymorphism of the dopamine $D_1$ receptor gene in Korean popualtion to minimize the effect of racial differencies in gene frequencies. The frequencies of the $B_1$ and $B_2$ in schizophrenic patients were 0.11 and 9.89, respectively. And 0.10 and 0.90 in normal control. Ther was no significant differences in the frequencies in the allele $B_1$ and $B_2$between schizophrenic patients and normal controls. The author present here the evidence of a lack of alleic association between the polymorphism of the dopamine $D_1$ receptor gene and Korean schizophrenic patients. The assumption that the dopamine $D_1$ receptor gene has a genetic role in the development of schizophrenia was not suppoorted by this case-control study.

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Dopamine Transporter Gene and Dopamine D2, D3, D4 Receptor Gene Polymorphisms in Attention Deficit Hyperactivity Disorder (주의력결핍 과잉행동장애에서 도파민 전달체 및 도파민 D2, D3, D4 수용체 유전자 다형성)

  • Park, Pil-Sang;Kim, Dae-Kwang;Jung, Chul-Ho
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.19 no.1
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    • pp.19-27
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    • 2008
  • Objectives : The aim of this study was to examine the association of attention-deficit hyperactivity disorder (ADHD) in Korean populations with functional polymorphisms of six genes dopamine receptors (Ser311/Cys311 polymorphism, Taq1 A polymorphism, and Taq1 B polymorphism in DRD2, BalI polymorphism in DRD3, and promoter -521 C/T polymorphism and exon III 48 bp repeat polymorphism in DRD4) and one gene in dopamine transporter (DAT1). Methods : Participants were 58 children with ADHD and 110 control children. The genotypes were determined by PCR. Results : There was a statistically significant difference in genotype frequency of -521 C/T polymorphism within the promoter region of the DRD4 between two groups. Furthermore, in the male group, both genotype and allele frequencies showed statistically significant differences. Conclusion : Findings of the study indicate that -521 C/T polymorphism in promoter region of DRD4 appears to be a possible candidate gene for ADHD in Korean population.

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Association of Beta-lactoglobulin Polymorphism with Milk Production Traits in Cattle

  • Badola, S.;Bhattacharya, T.K.;Biswas, T.K.;Kumar, Pushpendra;Sharma, Arjava
    • Asian-Australasian Journal of Animal Sciences
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    • v.16 no.11
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    • pp.1560-1564
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    • 2003
  • The study was carried out in Sahiwal, Holstein Friesian, Jersey and crossbred cattle to find out the effect of genotype of beta-lactoglobulin gene on milk production traits. The polymorphism at beta-lactoglobulin gene was identified by conducting PCRRFLP studies. A 398 bp fragment of the gene was amplified and digested with Hae III restriction enzyme. The two alleles A and B and three genotypes AA, AB and BB were identified in all cattle breeds. The frequency of B allele was comparatively higher than that of A allele. The AA genotype produced significantly higher milk yield in Sahiwal cattle whereas BB genotype yielded higher milk in Holstein friesian cattle. In other cattle breeds the genotypic effect was non-significant. In conclusion it may be stated that the genotype with significantly higher milk yield may be favoured in the farm along with other conventional selection criteria to enhance the milk production of animals.

Association Study Between Genetic Polymorph isms in Interleukin-1 Gene Family and Adult Periodontitis in Korean

  • Kang, ByungYong;Kang, Chin Yang;Lee, Kang Oh
    • Toxicological Research
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    • v.20 no.4
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    • pp.299-305
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    • 2004
  • Adult periodontitis (AP) is a chronic inflammatory disease whose etiology is not well defined. Some studies suggested that the clinical characteristics of this disease may be in part explained by genetic factors, and some attempts to find genetic markers for this disease were successful. The interleukin-1 (IL-1) gene family as one of genetic factors may influence the expression of adult periodontitis. The aim of present study is to investigate the frequencies of genetic polymorphisms in the IL-1 gene family encoding three genes (IL-1A, IL-1B and IL-1RN) in Korean AP patients and periodontically healthy controls. There were no significant differences in genotype and allele frequencies of these polymorph isms between two groups, respectively. However, -511 polymorphism of IL-1 B gene was significantly associated with mean pocket depth (MPD, mm) value in AP patients (P<0.05). Therefore, our results suggest that -511 polymorphism in the IL-1B gene may be useful as a genetic marker for the severity of AP in Koreans.

Polymorphism of Insulin-like Growth Factor 1 Receptor Gene in 12 Pig Breeds and Its Relationship with Pig Performance Traits

  • Wang, Wenjun;Ouyang, Kehui;Su, Xifan;Xu, Mingsheng;Shangguan, Xinchen
    • Asian-Australasian Journal of Animal Sciences
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    • v.19 no.11
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    • pp.1541-1545
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    • 2006
  • The polymorphism of insulin-like growth factor I receptor (IGFIR) gene in 12 pig breeds (total n = 593) was detected by PCR-SacII-restriction fragment length polymorphism and allele A (379 bp) or allele B (235 bp and 144 bp) observed. In the studied breeds, it was found that European pigs principally carried allele A, while Chinese native pig breeds principally carried allele B. In addition, the role of pig IGFIR was investigated in 156 Wanbai pigs and 212 Large Yorkshire pigs. Growth related variables including body weight at birth, 2-, 4- and 6-mo of age and backfat thickness and lean percentage estimated by ultrasonography at 6-mo of age were recorded in analyzing the association between IGFIR gene polymorphism and growth traits. AA-genotype pigs exhibited greater (p<0.05) body weights (BW) at birth, 2- and 6-mo of age, but not at 4-mo of age, than those of the BB-genotype in Wanbai and Yorkshire breeds. Moreover, in the Yorkshire breed, AA-genotype pigs had less backfat thickness (p<0.05) and greater lean percentage (p<0.01) than the BB genotype. Based on these results, it is necessary to do more studies on IGFIR before introducing the IGFIR locus into breeding programs.

Cytochrome b Gene-Based Assay for Monitoring the Resistance of Colletotrichum spp. to Pyraclostrobin

  • Dalha Abdulkadir, Isa;Heung Tae, Kim
    • The Plant Pathology Journal
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    • v.38 no.6
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    • pp.616-628
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    • 2022
  • Resistance to pyraclostrobin due to a single nucleotide polymorphism at 143rd amino acid position on the cytochrome b gene has been a major source of concern in red pepper field infected by anthracnose in Korea. Therefore, this study investigated the response of 24 isolates of C. acutatum and C. gloeosporioides isolated from anthracnose infected red pepper fruits using agar dilution method and other molecular techniques such as cytochrome b gene sequencing, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and allele-specific polymerase chain reaction (PCR). The result showed that four isolates were resistant to pyraclostrobin on agar dilution method and possessed GCT (alanine) codon at 143rd amino acid position, whereas the sensitive isolates possessed GGT (glycine). Furthermore, this study illustrated the difference in the cytochrome b gene structure of C. acutatum and C. gloeosporioides. The use of cDNA in this study suggested that the primer Cacytb-P2 can amplify the cytochrome b gene of both C. acutatum and C. gloeosporioides despite the presence of various introns in the cytochrome b gene structure of C. gloeosporioides. The use of allele-specific PCR and PCR-RFLP provided clear difference between the resistant and sensitive isolates. The application of molecular technique in the evaluation of the resistance status of anthracnose pathogen in red pepper provided rapid, reliable, and accurate results that can be helpful in the early adoption of fungicide-resistant management strategies for the strobilurins in the field.