• Title/Summary/Keyword: polymorphisms

Search Result 1,798, Processing Time 0.03 seconds

The Role of CYP2B6*6 Gene Polymorphisms in 3,5,6-Trichloro-2-pyridinol Levels as a Biomarker of Chlorpyrifos Toxicity Among Indonesian Farmers

  • Liem, Jen Fuk;Suryandari, Dwi A.;Malik, Safarina G.;Mansyur, Muchtaruddin;Soemarko, Dewi S.;Kekalih, Aria;Subekti, Imam;Suyatna, Franciscus D.;Pangaribuan, Bertha
    • Journal of Preventive Medicine and Public Health
    • /
    • v.55 no.3
    • /
    • pp.280-288
    • /
    • 2022
  • Objectives: One of the most widely used pesticides today is chlorpyrifos (CPF). Cytochrome P450 (CYP)2B6, the most prominent catalyst in CPF bioactivation, is highly polymorphic. The objective of our study was to evaluate the role of CYP2B6*6, which contains both 516G>T and 785A>G polymorphisms, in CPF toxicity, as represented by the concentration of 3,5,6-trichloro-2-pyridinol (TCPy), among vegetable farmers in Central Java, Indonesia, where CPF has been commonly used. Methods: A cross-sectional study was conducted among 132 vegetable farmers. Individual socio-demographic and occupational characteristics, as determinants of TCPy levels, were obtained using a structured interviewer-administered questionnaire and subsequently used to estimate the cumulative exposure level (CEL). TCPy levels were detected with liquid chromatography-mass spectrometry. CYP2B6*6 gene polymorphisms were analyzed using a TaqMan® SNP Genotyping Assay and Sanger sequencing. Linear regression analysis was performed to analyze the association between TCPy, as a biomarker of CPF exposure, and its determinants. Results: The prevalence of CYP2B6*6 polymorphisms was 31% for *1/*1, 51% for *1/*6, and 18% for *6/*6. TCPy concentrations were higher among participants with CYP2B6*1/*1 than among those with *1/*6 or *6/*6 genotypes. CYP2B6*6 gene polymorphisms, smoking, CEL, body mass index, and spraying time were retained in the final linear regression model as determinants of TCPy. Conclusions: The results suggest that CYP2B6*6 gene polymorphisms may play an important role in influencing susceptibility to CPF exposure. CYP2B6*6 gene polymorphisms together with CEL, smoking habits, body mass index, and spraying time were the determinants of urinary TCPy concentrations, as a biomarker of CPF toxicity.

Peroxisome Proliferator-activated Receptor-γ Gene Polymorphisms are not associated with Osteonecrosis of the Femoral Head in the Korean Population

  • Kim, Tae-Ho;Hong, Jung Min;Park, Eui Kyun;Kim, Shin-Yoon
    • Molecules and Cells
    • /
    • v.24 no.3
    • /
    • pp.388-393
    • /
    • 2007
  • Osteonecrosis of the femoral head (ONFH) is a multifactorial disease to which certain individuals are more at risk. Altered lipid metabolism is one of the major risk factors for osteonecrosis, especially corticosteroid therapy and alcoholism. Peroxisome Proliferator-Activated Receptor-${\gamma}$ ($PPAR{\gamma}$) plays a crucial role in differentiation of mesenchymal cells to adipocytes, lipid homeostasis, and bone metabolism. To investigate the possible association between $PPAR{\gamma}$ gene variants and susceptibility to ONFH, we genotyped three common polymorphisms (-796A > G, +34C > G[Pro12Ala], and +82466C > T[His477His]) in 448 ONFH patients and 336 control subjects. Genotypes, allele frequencies, and haplotypes of the polymorphisms in the complete set of patients as well as in subgroups by sex or etiology were not significantly different from those in the control group. This suggests that the examined polymorphisms and haplotypes of the $PPAR{\gamma}$ gene are unlikely to be associated with susceptibility to ONFH.

Lack of Association Between GSTM1 and GSTT1 Polymorphisms and Brain Tumour Risk

  • Sima, Xiu-Tian;Zhong, Wei-Ying;Liu, Jian-Gang;You, Chao
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.13 no.1
    • /
    • pp.325-328
    • /
    • 2012
  • Objective: Glutathione S-transferases (GSTs) are important enzymes that are involved in detoxification of environmental carcinogens. Molecular epidemiological studies have been conducted to investigate the association between GSTM1 and GSTT1 homozygous deletion polymorphisms and brain tumours but results have been conflicting. The aim of this study was to clarify this problem using a meta-analysis. Methods: A total of 9 records were identified by searching the PubMed and Embase databases. Fixed- and random-effects models were performed to estimate the pooled odds ratios. Results: No significant association was found between the GSTM1 and GSTT1 homozygous deletion polymorphisms and risk of brain tumours, including glioma and meningioma. Similar negative results were also observed in both population-based and hospital-based studies. Conclusion: These findings indicate that the GSTM1 and GSTT1 polymorphisms may not be related to the development of brain tumours.

Leptin Polymorphisms Associated with Carcass Traits of Meat in Korean Cattle

  • Cheong, Hyun Sub;Yoon, Du-Hak;Kim, Lyoung Hyo;Park, Byung Lae;Chung, Eui Ryong;Lee, Han Ju;Cheong, Il-Cheong;Oh, Sung-Jong;Shin, Hyoung Doo
    • Asian-Australasian Journal of Animal Sciences
    • /
    • v.19 no.11
    • /
    • pp.1529-1535
    • /
    • 2006
  • Leptin has been investigated as a candidate gene for fat characteristics in beef cattle. Previously, we have reported 57 sequence variants discovered in Korean cattle (Bos Taurus coreanae). In this study, we examined the association between polymorphisms of leptin and carcass traits (cold carcass weight (CWT) and marbling score (Marb)) in Korean cattle. Among 57 polymorphisms, 11 common polymorphic sites were genotyped in our beef cattle (n = 437). Statistical analysis revealed that one single nucleotide polymorphism in coding exon (c.+411T>C (A137A)) showed a significant association with the yield trait, CWT. The C-bearing genotypes (CC or CT) of c.+411T>C (A137A) showed the higher CWT (p = 0.006). c.+150C>G (S50S) also showed a significant association with the quality trait, Marb (p = 0.01). Our findings suggest that polymorphisms in leptin might be one of the important genetic factors that influence carcass yield and quality in beef cattle, especially in CWT and Marb.

Effects of Styrene-metabolizing Enzyme Polymorphisms and Lifestyle Behaviors on Blood Styrene and Urinary Metabolite Levels in Workers Chronically Exposed to Styrene

  • Kim, Ki-Woong
    • Toxicological Research
    • /
    • v.31 no.4
    • /
    • pp.355-361
    • /
    • 2015
  • The aim of this study was to investigate whether genetic polymorphisms of CYP2E1, GSTM1, and GSTT1 and lifestyle habits (smoking, drinking, and exercise) modulate the levels of urinary styrene metabolites such as mandelic acid (MA) and phenylglyoxylic acid (PGA) after occupational exposure to styrene. We recruited 79 male workers who had received chronic exposure in styrene fiberglass-reinforced plastic manufacturing factories. We found that serum albumin was significantly correlated with blood styrene/ambient styrene (BS/AS), urinary styrene (US)/AS, and US/BS ratios as well as urinary metabolites, that total protein correlated with US/MA and US/PGA ratios, and that low density lipoprotein (LDL)-cholesterol significantly correlated with US/BS, US/MA, and US/PGA ratios. Multiple logistic regression analyses using styrene-metabolizing enzyme genotypes and lifestyle habits as dependent variables and blood and urine styrene concentrations and urine styrene metabolite levels as independent variables revealed that $CYP2E1^*5$ was associated with the MA/US ratio and GSTM1 with US/BS, that a smoking habit was associated with US/AS and MA/US ratios and MA and PGA levels, and that regular exercise was correlated with PGA/US. In conclusion, the results suggested that genetic polymorphisms of styrene-metabolizing enzymes, lifestyle behaviors, and albumin and LDL-cholesterol serving as homeostasis factors together are involved in styrene metabolism.

T-786C, G894T, and Intron 4 VNTR (4a/b) Polymorphisms of the Endothelial Nitric Oxide Synthase Gene in Bladder Cancer Cases

  • Polat, Fikriye;Diler, Songul Budak;Azazi, Irfan;Oden, Artun
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.16 no.6
    • /
    • pp.2199-2202
    • /
    • 2015
  • The aim of the present study was to determine whether endothelial nitric oxide synthase (eNOS) gene polymorphisms play a role in development of bladder cancer in the Turkish population. The study was performed on 75 patients (64 men, 11 women) with bladder cancer and 143 healthy individuals (107 men, 36 women) with any kind of cancer history. Three eNOS gene polymorphisms (T-786C promoter region, G894T and intron 4 VNTR 4a/b) were determined with polymerase chain reaction and restriction fragment lenght polymorphism methods. In our study, GT and TT genotypes for eNOS G894T polymorphism were found to significantly vary among patients with bladder cancer and control group (OR: 0.185, CI: 0.078-0.439, p=0.0001 and OR: 0.324, CI: 0.106-0.990, p=0.026). Also, the frequency of the 894T allele was significantly higher in patients with bladder cancer (51%). No association was identified for eNOS T-786C and intron 4 VNTR 4a/b polymorphisms between patients with bladder cancer and control groups in our Turkish population.

Circulating levels of vitamin D, vitamin D receptor polymorphisms, and colorectal adenoma: a meta-analysis

  • Lee, Jung-Eun
    • Nutrition Research and Practice
    • /
    • v.5 no.5
    • /
    • pp.464-470
    • /
    • 2011
  • Growing evidence suggests an elevated risk for colorectal neoplasia among individuals with low levels of vitamin D, the biological actions of which are mediated by the vitamin D receptor (VDR). To investigate the association among vitamin D status, VDR polymorphisms (FokI, and BsmI), and colorectal adenoma, we conducted a meta-analysis of nine studies of circulating levels of 25-hydroxyvitamin D (25(OH)D) and five studies of FokI or BsmI polymorphisms in relation to colorectal adenomas. Study-specific relative risks (RRs) and 95% confidence intervals (CIs) were pooled using a random-effects model. A total of 3398 coloreetal adenomas for 25(OH)D and 1754 colorectal adenomas for VDR were included in the meta-analysis. We identified a significant inverse association between colorectal adenoma (combined RR, 0.93; 95% CI, 0.87-0.98 per 10 ng/mL increase in 25(OH)D levels). When we examined FokI and BsmI polymorphisms in the meta-analysis, we found no association for either FokI (combined RR, 1.00; 95% CI, 0.95-1.06) or BsmI (combined RR, 0.99; 95% CI, 0.93-1.05) in the additive model. These data suggest an inverse association between circulating 25(OH)D levels and colorectal adenoma risk.

Genetic Polymorphisms in Patients with Endometriosis in the Korean Population (한국인 자궁내막증 환자의 유전자 다형성 양상)

  • Lee, Gyeong-Hun;Choi, Young-Min
    • Journal of Genetic Medicine
    • /
    • v.6 no.2
    • /
    • pp.121-130
    • /
    • 2009
  • Medical Research Center, Seoul National University College of Medicine, Seoul, Korea To analyze a wide variety of polymorphisms in patients with endometriosis is important since this disease has a strong genetic component. Until now, more than 30 Korean studies have been performed in order to elucidate the possible role of specific polymorphisms in the susceptibility to endometriosis. The most meaningful polymorphisms in Korean patients with endometriosis came from studies investigating GSTM1, AhRR, ER-alpha, VEGF, AHSG, and TNF-alpha. However, following studies should be made to confirm the consistency of the data to have some implications in the prediction of endometriosis. In this review, we also present the future direction of the association studies in complex trait disease such as endometriosis.

  • PDF

Epidermal Growth Factor Receptor Gene Polymorphisms and Gastric Cancer in Iran

  • Abediankenari, Saeid;Jeivad, Fereshteh
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.14 no.5
    • /
    • pp.3187-3190
    • /
    • 2013
  • Background: Epidermal growth factor receptor (EGFR) is a transmembrane receptor which contributes to many processes involved in cell survival, proliferation and inhibits apoptosis, that may lead to cancer development. Gastric cancer is one of the most common diseases of digestive system that has low 5-year-survival. The aim of this research was to determine the significance of EGFR tyrosine kinase domain gene polymorphisms in gastric cancer in Iran. Materials and Methods: In the present study, 83 patients with gastric cancer and 40 normal subjects were investigated for EGFR gene polymorphisms in exons 18-21 by PCR-SSCP. Then, DNA sequencing was conducted for different mobility shift bands. Finally the data were statistically analyzed using the chi-2 test and the SPSSver.16 program. Results: Exon 18 of EGFR gene showed three different bands in SSCP pattern and DNA sequencing displayed one mutation. SSCP pattern of Exons 19 and 21 did not show different migration bands. Exon 20 of EGFR gene revealed multiple migrate bands in SSCP pattern. DNA sequencing displayed 2 mutations in this exon: one mutation was caused amino acid change and another mutation was silent. Conclusion: It may be that EGFR tyrosine kinase gene polymorphisms differ between populations and screening could be useful in gastric cancer patients who might benefit from tyrosine kinase inhibitor therapy.

A Study on the DNA Polymorphisms at $\beta$fibrinogen Loci and Plasma Fibrinogen Concentration

  • Lee, Mi-Hwa;Ohrr, Hee-Choul;Song, Kyung-Soon
    • Biomedical Science Letters
    • /
    • v.7 no.3
    • /
    • pp.151-159
    • /
    • 2001
  • Many prospective studies have confirmed the predictive value of plasma fibrinogen levels for vascular diseases, including ischemic heart disease. Several polymorphisms of the $\beta$fibrinogen gene have been investigated in relation to plasma fibrinogen levels. The blood samples for DNA were collected from 109 healthy Koreans who have no relationship by blood (67 males and 42 females) in due consideration of some other factors such as gender, age, and smoking status. Four polymorphisms of the $\beta$fibrinogen gene that consist of HaeIII, AluI, MaII and BcII restriction fragment length polymorphisms (RFLPs) were investigated to examine the associations between RFLPs and plasma fibrinogen levels. In conclusion, the significant associations between HaeIII, AluI, MnII RFLPs(H$_1$H$_2$, M$_1$M$_2$, $A_1$A$_2$) and the concentration of plasma fibrinogen were shown by the smokers as well as by the old people more than 50, whereas the association between BcII and plasma fibrinogen were shown no connection with the status of age and smoking. The concentration of plasma fibrinogen was significantly shown higher by the old people ($\geqq$50) by the younger people ($\leqq$49) in male and also higher by the smokers than by the nonsmokers.

  • PDF