• Title/Summary/Keyword: genetic polymorphism and susceptibility

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The Role of Job Stress and Brain-Derived Neurotrophic Factor Gene Polymorphism on the Severity of Alcohol Drinking in Korean Office Workers in Their Twenties (20대 한국 직장인의 음주 심각도에 대한 직무 스트레스와 BDNF 유전자 다형성의 역할)

  • Kim, Bo-Ah;Lee, Sang-Ick;Kim, Sie-Kyeong;Shin, Chul-Jin;Son, Jung-Woo;Hong, Joo-Bong;Nam, Yeong-Woo;Ju, Ga-Won
    • Korean Journal of Biological Psychiatry
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    • v.19 no.2
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    • pp.91-98
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    • 2012
  • Objectives : The aim of this study was to examine the effects of brain-derived neurotrophic factor (BDNF) genetic polymorphism and job stress on the severity of alcohol drinking. It was hypothesized that individuals with the Met/Met BDNF genotype would be more vulnerable than those carrying the Val allele. Methods : Participants were 133 healthy Korean adults (mean age $28.2{\pm}1.1$). Job stress and the severity index of drinking were investigated through self-reported questionnaires. BDNF (rs6265) gene was genotyped. Results : There was no significant association between job stress and the severity of alcohol drinking. Although the severity of alcohol drinking was not associated with BDNF genetic polymorphism, there was a significant difference in men according to genotype and job stress. Men with homozygous BDNF Met allele were more severe in alcohol drinking when job stress was high, less severe in alcohol drinking when job stress was low than those carrying the Val allele (F = 4.47, p = 0.038). Also higher level of job stress was correlated with higher severity of alcohol drinking in men homozygous for BDNF Met allele (rs = 0.620, p = 0.005). Conclusions : These findings suggest the possibility that Met allele could have differential susceptibility, with men homozygous for BDNF Met allele being more susceptible to both more adverse and less adverse environmental influences.

Susceptibility for ischemic stroke in Sasang constitutional classification is associated with the interleukin-1 receptor antagonist polymorphism

  • Lee, Byung-Cheol;Ahn, Young-Min;Ahn, Se-Young;Doo, Ho-Kyung
    • Advances in Traditional Medicine
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    • v.6 no.1
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    • pp.27-33
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    • 2006
  • The Sasang constitutional medicine classifies the mankind into four constitutional types according to the individual psychological and physical traits. Differences in the Sasang constitutional medicine may be explained by the genetic factors. In order to determine the association of Sasang constitutional classification and interleukin-1 receptor antagonist (IL-1Ra) in genetic susceptibility to ischemic stroke, we classified the four constitutional types in ischemic stroke patients (n = 125) and the healthy control subjects (n = 107), and genotyped for IL-1Ra polymorphism by polymerase chain reaction (PCR) methods. The distribution of the $IL1RN^*1/IL1RN^*2$ genotype in the ischemic stroke patients was significantly different from the healthy controls (OR = 6.09; P =0.0134). And the prevalence of $IL1RN^*1/IL1RN^*2$ genotype was increased in Taeum-in ischemic stroke patients, as compared to Taeum-in healthy controls (OR = 14.71; P = 0.0144). These results suggest that $IL1RN^*1/IL1RN^*2$ genotype in Taeum-in might be associated with the increasing risk for ischemic stroke. Furthermore, this relationship could provide the basis for a new approach in the investigation of the etiology of ischemic stroke.

Association between MTHFR C677T Polymorphism and Risk of Prostate Cancer: Evidence from 22 Studies with 10,832 Cases and 11,993 Controls

  • Abedinzadeh, Mehdi;Zare-Shehneh, Masoud;Neamatzadeh, Hossein;Abedinzadeh, Maryam;Karami, Hormoz
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.11
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    • pp.4525-4530
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    • 2015
  • Background: The MTHFR C677T polymorphism is a genetic alteration affecting an enzyme involved in folate metabolism, but its relationship to host susceptibility to prostate cancer remains uncertain. The aim of this study was to investigate the association between MTHFR C677T polymorphism and prostate cancer by performing a meta-analysis. Materials and Methods: Pubmed and Web of Science databases were searched for case-control studies investigating the association between MTHFR C677T polymorphism and prostate cancer. Odds ratios (OR) and 95% confidence intervals (95%CI) were used to assess any link. Results: A total of 22 independent studies were identified, including 10,832 cases and 11,993 controls. Meta-analysis showed that there was no obvious association between MTHFR C677T polymorphism and risk of prostate cancer under all five genetic models. There was also no obvious association between MTHFR C677T polymorphism and risk of prostate cancer in the subgroup analyses of Caucasians. In contrast, MTHFR C677T polymorphism was associated with increased risk for prostate cancer in Asians with the allele model (C vs G: OR=1.299, 95 %CI =1.121-1.506, P=0.001, $P_{heterogeneity}=0.120$, $I^2=45%$), additive genetic model (CC vs TT: OR =1.925, 95 % CI= 1.340-2.265, P=0.00, $P_{heterogeneity}=0.587$, $I^2=0.00%$), recessive model (CC vs TT+TC: OR= 1.708, 95 % CI=1.233-2.367, P=0.001, $P_{heterogeneity}=0.716$, $I^2=0.00%$), and heterozygote genetic model (CT vs TT: OR=2.193, 95 % CI =1.510-3.186, P=0.000, $P_{heterogeneity}=0.462$, $I^2=0.00%$). Conclusions: These results suggest that the MTHFR C677T polymorphism does not contribute to the risk of prostate cancer from currently available evidence in populations overall and Caucasians. However, the meta analysis indicates that it may play a role in prostate cancer development in Asians.

POLYMORPHISM OF GSTM1, GSTT1, GSTP1, NATII AND CYP1A1 AND THE SUSCEPTIBILITY TO ASTHMA

  • Ahn, Tai-Hui;Kim, Su-Young;Kim, Tai-Yun;Paek, Do-Myung;Chung, Hai-Won
    • Proceedings of the Korean Society of Toxicology Conference
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    • 2001.05a
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    • pp.112-112
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    • 2001
  • The genetic polymorphism of GSTM1, GSTT1, GSTP1, NATII and CYP1A1 genes among 33 asthma patients and 66 controls were investigated to find the association between the polymorphism and the risk of asthma. The frequency of the GSTT1 null genotype was slightly higher in asthma patients than that in the control, but this difference was not significant.(omitted)

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Lack of Participation of the GSTM1 Polymorphism in Cervical Cancer Development in Northeast Thailand

  • Natphopsuk, Sitakan;Settheetham-Ishida, Wannapa;Settheetham, Dariwan;Ishida, Takafumi
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.5
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    • pp.1935-1937
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    • 2015
  • The potential association between the GSTM1 deletion polymorphism and risk of cervical cancer was investigated in Northeastern Thailand. DNA was extracted from buffy coat specimens of 198 patients with squamous cell carcinoma of the cervix and 198 age-matched healthy controls. Genotyping of the GSTM1 was conducted by using two PCR methods, a short- and a long-PCR. Distribution of the GSTM1 genotypes in between the cases and the controls was not significantly different (p>0.5 by ${\chi}^2$ test). The results suggest that the GSTM1 deletion polymorphism is not a risk factor for squamous cell carcinoma of the cervix in the northeast Thai women.

Association between a p73 Gene Polymorphism and Genetic Susceptibility to Non-small Cell Lung Cancer in the South of China

  • Wang, Shuang-Shuang;Guo, Hai-Yan;Dong, Lin-Li;Zhu, Xiang-Qian;Ma, Liang;Li, Wen;Tang, Jian-Xin
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.23
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    • pp.10387-10391
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    • 2015
  • Background: This study aimed to identify any association between the p73 gene G4C14-to-A4T14 polymorphism and risk of non-small cell lung cancer (NSCLC) in the south of China. Materials and Methods: We genotyped the p73 gene polymorphism of peripheral blood DNA from 168 patients with NSCLC and 195 normal controls using HRM (high resolution melting) and PCR-CTPP (polymerase chain reaction with confronting two-pair primers). Results: The results of genotyping by HRM and PCR-CTPP were consistent with direct sequencing, the p73 genotype distribution in 168 lung cancer patients being as follows: GC/GC 101 cases (60.1%), GC/AT 59 cases (35.1%), AT/AT 8 cases (4.8%). The carriers of AT/AT genotype had a significantly reduced risk of NSCLC (OR=0.370; 95%CI: 0.170-0.806; p=0.010) as compared with non-carriers. However, we found no relations between p73 genotypes and histological type (p=0.798, $x^2=0.452$), tumor stage (p=0.806, $x^2=0.806$), or lymph node metastasis (p=0.578, $x^2=1.098$). Conclusions: Our findings suggest that the p73 G4C14-to-A4T14 polymorphism may be a modifier of NSCLC susceptibility in the Chinese population.

Transforming Growth Factor Beta-1 C-509T Polymorphism and Cancer Risk: A Meta-analysis of 55 Case-control Studies

  • Liu, Yang;Lin, Xian-Fan;Lin, Chun-Jing;Jin, Si-Si;Wu, Jin-Ming
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.9
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    • pp.4683-4688
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    • 2012
  • Aim: To investigate the association of transforming growth factor-beta 1 (TGF-${\beta}1$) C-509T polymorphism and susceptibility to cancer by means of meta-analysis. Methods: An extensive search was performed to identify eligible case-control studies investigating such a link. The strength of the association between TGF-${\beta}1$ C-509T polymorphism and cancer risk was assessed by pooled odds ratios (ORs) and 95%confidence intervals (95%CIs) in fixed or random effects models. Results: 55 published case-control studies with a total number of 21,639 cases and 28,460 controls were included. Overall, there was no association between TGF-${\beta}1$ C-509T and cancer risk in all genetic comparison models (TT vs. CC: OR=1.01, 95%CI=0.89-1.15; T vs. C: OR=1.01, 95%CI=0.94-1.07). However, a stratified analysis by cancer type indicated -509 T allele was significantly associated with decreased risk of colorectal cancer (CRC) (TT vs. CT/CC: OR=0.85, 95%CI=0.76-0.95), especially for Caucasians (TT vs. CT/CC: OR=0.83, 95%CI=0.71-0.98) and for population-based studies (TT vs. CT/CC: OR=0.78, 95%CI=0.68-0.89). Conclusion: This meta-analysis suggested that TGF-${\beta}1$ C-509T polymorphism might contribute to a decreased risk on colorectal cancer susceptibility, especially for Caucasians.

The AURKA Gene rs2273535 Polymorphism Contributes to Breast Carcinoma Risk - Meta-analysis of Eleven Studies

  • Guo, Xu-Guang;Zheng, Lei;Feng, Wei-Bo;Xia, Yong
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.16
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    • pp.6709-6714
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    • 2014
  • The rs2273535 polymorphism in the AURKA gene had proven to be associated with breast carcinoma susceptibility. Nevertheless, the results of different studies remain contradictory. A meta-analysis covering 28, 789 subjects from eleven different studies was here carried out in order to investigate the association in detail. The random effects model was used to analyze the pooled odds ratios (ORs) and their corresponding 95% confidence intervals (95% CIs). A significant relationship between the rs2273535 polymorphism and breast tumors was found in an allelic genetic model (OR: 1.076, 95% CI: 1.004-1.153, p=0.040, $P_{heterogeneity}$=0.002). No significant association was detected in a homozygote model (OR: 1.186, 95% CI: 0.990-1.423, P=0.065, $P_{heterogeneity}$=0.002), a heterozygote model (OR: 1.016, 95% CI: 0.959-1.076, p=0.064, $P_{heterogeneity}$=0.000), a dominant genetic model (OR: 1.147, 95% CI: 0.992-1.325, p=0.217, $P_{heterogeneity}$=0.294) and a recessive genetic model (OR: 1.093, 95% CI: 0.878-1.361, p=0.425, $P_{heterogeneity}$=0.707). A significant relationship between the rs2273535 polymorphism in the AURKA gene and breast tumor in Asian group was found in an allelic genetic model (OR: 1.124, 95% CI: 1.003-1.29, p=0.044, $P_{heterogeneity}$=0.034), a homozygote model (OR: 1.229, 95% CI: 1.038-1.455, p=0.016, $P_{heterogeneity}$=0.266) and a recessive genetic model (OR: 1.227, 95% CI: 1.001-1.504, p=0.049, $P_{heterogeneity}$=0.006). A significant association was thus observed between the rs2273535 polymorphism in the AURKA gene and breast cancer risk. Individuals with the rs2273535 polymorphism in the AURKA gene have a higher risk of breast cancer in Asian populations, but not in Caucasians.

CYP1A1 Genetic Polymorphisms and Risk for Esophageal Cancer: a Case-control Study in Central China

  • Yun, Yu-Xia;Wang, Yan-Ping;Wang, Peng;Cui, Li-Hong;Wang, Kai-Juan;Zhang, Jian-Ying;Dai, Li-Ping
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.11
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    • pp.6507-6512
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    • 2013
  • The purpose of this study was to evaluate the associations of CYP1A1 genetic polymorphisms with the risk of developing esophageal cancer (EC). A case-control study was carried out in a Chinese population in which 157 hospital based EC cases and 157 population based healthy controls with 1:1 match by age and sex were included. PCR based restriction fragment length polymorphisms (PCR-RFLP) were used to detect genotypes in case and control groups. For the CYP1A1 Ile/Val polymorphism, comparing with wild genotype Ile/Ile, both the heterozygote genotype Ile/Val and the combined variant genotype Ile/Val+Val/Val increased the risk of esophageal cancer (OR: 2.05, 95%CI: 1.19-3.54, OR: 1.86, 95%CI: 1.11-3.12). No significant association was found between the CYP1A1 MspI polymorphism and EC. According to analysis of combined genotypes, the TC/AG combined genotype which contained both variant alleles of these two polymorphisms increased the risk of developing EC (OR: 2.12, 95%CI: 1.16-3.85). Our results suggested that genetic polymorphisms of CYP1A1 may increase the susceptibility to EC.

Action-mechanisms of Genetic Polymorphism in the CYP2E1 on Susceptibility to Polycyclic Aromatic Hydrocarbons (다환성방향족탄화수소 노출에 대한 감수성에 미치는 CYP2E1의 작용)

  • Kang Hyuck-Joon;Park Chang- Hwan;Kang Jin Sun;Dong Mi- Sook;Yang Mihi
    • Environmental Analysis Health and Toxicology
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    • v.20 no.3 s.50
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    • pp.215-221
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    • 2005
  • Environmental polycyclic aromatic hydrocarbones (PAHs), which are formed during incomplete combustion of fossil fuels, are widely distributed in our environment. Human exposure to PAHs may occur through smoking, polluted air, food consumption and occupational contact. Urinary naphthols, 1-and 2-naphthol, have been suggested as route -specific biomarkers for exposure to airborne PAHs. Cytochrome p450 2E1 (CYP2E1) is known to be a great importance for the metabolism of organic solvents, which is a precacinogens with small molecular weight. This study describes the metabolic differences between PstI and RsaI polymorphisms (c1 allele: PstI-. RsaI+ ; c2 allele: PstI+, RsaI-) of CYP2E1 5-flanking region by genetically modified HepG2 cells, which overexpress the polymorphic regions. The results of CAT assay and western blot in the c2 allele overexpressed cells have higher activities than the cl allele over-expressing cells. However, the metabolism of naphthalene to 2-naphthol has no difference due to the two genotypes. In this study, we established the CYP2E1 polymorphic allele transduced HepG2 cells to screen susceptibility -differences in PAH exposure. In conclusion, the CYP2E1 polymorphism may hardly induce susceptibility differences in PAH exposure monitoring with urinary naphthols.