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The Methylenetetrahydrofolate Reductase C677T Polymorphism and Breast Cancer Risk in Asian Populations

  • Rai, Vandana
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.14
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    • pp.5853-5860
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    • 2014
  • Background: Methylenetetrahydrofolate (MTHFR) is the key enzyme of the folate metabolic pathway and several studies have pointed to association between the MTHFR C677T polymorphism and breast cancer risk. Although significant association was observed in some studies, in others no clear link could be established. Objective: A meta-analysis of published Asian case control studies was therefor carried out to shed further light on any C677T breast cancer association. Materials and Methods: PubMed, Springer Link, Google Scholar and Elsevier databases were searched for case control studies of associations between MTHFR C677T polymorphism and breast cancer risk. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the association. A total of 36 studies including 8,040 cases and 10,008 controls were included in the present meta-analysis. Results: Overall, a significantly elevated breast cancer risk was associated with the T allele and TT genotype in homozygote comparison and dominant genetic models when all studies were pooled into the meta-analysis (T vs C (allele contrast model): OR=1,23, 95%CI=1.13-1.37, p=0.000 ; TT vs CC(homozygote model): OR=1.38, 95%CI=1.16-1.63, p=0.0003; TT+CT vs CC (dominant model): OR=1.12, 95%CI=1.01-1.23, p=0.02). Conclusions: The present meta-analysis strongly suggested a significant association between the MTHFR C677T polymorphism and risk of breast cancer in Asian populations.

Lack of Association Between the CYP1A1 Ile462Val Polymorphism and Endometrial Cancer Risk: a Meta-analysis

  • Wang, Xi-Wen;Zhong, Tian-Yu;Xiong, Yun-Hui;Lin, Hai-Bo;Liu, Qing-Yi
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.8
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    • pp.3717-3721
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    • 2012
  • Purpose: Any association between the CYP1A1 Ile462Val polymorphism and endometrial cancer risk remains inconclusive. For a more precise estimate, we performed the present meta-analysis. Methods: PUBMED, OVID and EMBASE were searched for the studies which met inclusion criteria. Data in all eligible studies were evaluated and extracted by two authors independently. The meta-analysis estimated pooled odds ratio (OR) with 95% confidence interval (CI) for endometrial cancer risk attributable to the CYP1A1 Ile462Val polymorphism. Results: A total of 7 studies were included in this meta-analysis. The results indicated no association between endometrial cancer risk and the CYP1A1 Ile462Val polymorphism (for Val vs Ile allele model [OR 1.09, 95% CI 0.73-1.62]; for Val.Val vs Ile.Ile genotype model [OR 1.54, 95% CI 0.56-4.23]; for (Ile.Val + Val.Val) vs Ile.Ile genotpye model [OR 1.08, 95% CI 0.71-1.63]; for Val.Val vs (Ile.Ile + Ile.Val) genotype model [OR 1.46, 95% CI 0.53-4.04]). Conclusions: This meta-analysis suggests that there is no association between endometrial cancer risk and the CYP1A1 Ile462Val polymorphism.

The XRCC3 Thr241Met Polymorphism Influences Glioma Risk - A Meta-analysis

  • Jiang, Jun;Quan, Xun-Feng;Zhang, Li;Wang, Yi-Chun
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.5
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    • pp.3169-3173
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    • 2013
  • Background: Findings from previous published studies regarding the association of the XRCC3 Thr241Met polymorphism with glioma susceptibility have often been conflicting. Therefore, a meta-analysis including all available publications was carried out to make a more precise estimation of the potential relationship. Methods: By searching the electronic databases of Pubmed and Embase (up to April 1st, 2013), a total of nine case-control studies with 3,752 cases and 4,849 controls could be identified for inclusion in the current meta-analysis. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the strength of the association. Results: This meta-analysis showed the XRCC3 Thr241Met polymorphism to be significantly associated with decreased glioma risk in the allelic model (Met allele vs. Thr allele: OR= 0.708, 95%CI= 0.631-0.795). Moreover, we also observed a statistically significant association between the XRCC3 Thr241Met polymorphism and reduced glioma risk in analyses stratified by ethnicity (Asian) and source of controls (hospital based) in the allelic model. Conclusions: Current evidence suggests that the XRCC3 Thr241Met polymorphism may be a risk factor for glioma development, especially in Asians.

The Interleukin-18 Promoter -607C>A Polymorphism Contributes to Nasopharyngeal Carcinoma Risk: Evidence from a Meta-analysis Including 1,886 Subjects

  • Guo, Xu-Guang;Xia, Yong
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.12
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    • pp.7577-7581
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    • 2013
  • The interleukin-18 promoter -607C>A gene polymorphism may be related to nasopharyngeal carcinoma (NPC) risk but the results of individual studies remain conflicting. A meta-analysis including 1,886 subjects from five individual studies was therefore performed to provide a more accurate estimation. Pooled odds ratios (ORs) and their corresponding 95% confidence intervals (95% CIs) were evaluated by fixed- or random-effects models. A significant relationship between interleukin-18 promoter -607C>A gene polymorphism and NPC was found in a dominant genetic model (OR: 1.351, 95% CI: 1.089-1.676, P=0.006, $P_{heterogeneity}$=0.904), a homozygote model (OR: 1.338, 95% CI: 1.023-1.751, P=0.034, $P_{heterogeneity}$=0.863), and a heterozygote model (OR: 1.357, 95% CI: 1.080-1.704, P=0.009, $P_{heterogeneity}$=0.824). No significant association was detected in either an allelic genetic model (OR: 1.077, 95% CI: 0.960-1.207, 0.207, $P_{heterogeneity}$=0.844) or a recessive genetic model (OR: 1.093, 95% CI: 0.878-1.361, P=0.425, $P_{heterogeneity}$=0.707). In conclusion, a significant association was found between interleukin-18 promoter -607C>A gene polymorphism and NPC risk. Individuals with the C allele of interleukin-18 promoter -607C>A gene polymorphism have a higher risk of NPC development.

Association of Estrogen Receptor Gene Polymorphism in Patients with Degenerative Lumbar Spondylolisthesise

  • Lee, Jung-Sub;Suh, Kuen-Tak;Kim, Jeung-Il;Lim, Jong-Min;Goh, Tae-Sik
    • Journal of Korean Neurosurgical Society
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    • v.50 no.5
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    • pp.415-419
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    • 2011
  • Objective : The purpose of this study was to investigate the possible association of estrogen receptor alpha ($ER{\alpha}$) gene polymorphisms in a cohort of degenerative spondylolisthesis (DS) patients. Methods : Accordingly, the authors examined the association between DS and $ER{\alpha}$ gene polymorphisms in 174 patients diagnosed with DS. The $Pvu$ $II$ and $Xba$ $I$ polymorphisms, bone mineral density at the lumbar spine and femoral neck, and biochemical markers were analyzed and compared in the 174 patients with DS and 214 patients with spinal stenosis (SS). Results : A comparison of genotype frequencies in DS and SS patients revealed a significant difference for the $Pvu$ $II$ polymorphism only ($p$=0.0452). No significant difference was found between these two groups with respect to the $Xba$ $I$ polymorphism, BMD or biochemical markers. No significant association was found between the$Pvu$ $II$ polymorphism of $ER{\alpha}$ and BMD, vertebral slip or biochemical markers in patients with DS. Conclusion : These results suggest that the $ER{\alpha}$ gene polymorphism using $Pvu$ $II$ restriction enzyme influences the prevalence of DS.

Analysis of Monocyte Chemoattractant Protein 1(MCP-1) Polymorphism in Korean Patients with Asthma (한국인 천식환자의 Monocyte chemoattractant protein 1(MCP-1) 유전자 다형성에 대한 분석)

  • Hwang, Woo-Suk;Jeong, Seung-Yeon;Kim, Jin-Ju;Jung, Hee-Jae;Jung, Sung-Ki
    • The Journal of Internal Korean Medicine
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    • v.29 no.1
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    • pp.32-41
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    • 2008
  • Background : Monocyte chemoattractant protein-1(MCP-1), one of the CC chemokines, appears to play a significant role in asthma pathogenesis. It was reported that polymorphism in the MCP-1(-2518 A/G promoter) was associated with asthma in Caucasians, but the association of this polymorphism and asthma patients in the Korean population has not yet been clarified. Objective : We investigated the possible association between 2 polymorphisms (-2518 A/G promoter and Cys35Cys) and asthma patients in a Korean population. Materials and Methods : DNA samples were obtained from 86 Korean asthma patients and 270 healthy controls. MCP-1 genomic variants (-2518 A/G promoter and Cys35Cys polymorphism) were detected by PCR-RFLP. Level of MCP-1 was measured by ELISA for each genotype (n=8) (AA, AG, GG) and allele types of -2518 A/G promoter polymorphism for control subjects. Results : The Cys35Cys polymorphism was associated with asthma patients in Korean population [genotype distribution ($X^{2}=16.011$, P<0.001)]. Comparison of the two groups revealed no detectable differences in genotype and allele frequencies of the -2518 A/G polymorphism. Haplotype frequencies analysis revealed significant difference $(X^{2}=51.70$, P<0.001). MCP-1 serum level of subjects with G genotype of -2518 A/G promoter polymorphism was statistically higher than that with AA genotype (P<0.05). Conclusion : Our data indicate that no association exists between the MCP-1 -2518 A/G polymorphism and asthma susceptibility in the Korean population. However, it is noteworthy that the high prevalence of the -2518 G allele in the Korean population suggests a potentially important ethnic variation in the regulation of MCP-1 production. This variation must be considered in gene-association studies in different ethnic populations.

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Comparative Analysis of Obesity by $\beta$-II, III, Adrenergic Receptor Gene Polymorphism in Korean Young Females ($\beta$-II, III Adrenergic Receptor 유전자 다형성에 따른 20대 한국여성의 식이 섭취량, 비만도 및 체성분의 비교연구)

  • 홍정미;김중학;박윤신;최선미;윤유식;안홍석
    • Journal of Nutrition and Health
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    • v.35 no.8
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    • pp.870-879
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    • 2002
  • The purpose of this study was to investigate the obesity and state of dietary intake of 216 young Korean females, and the influence of $\beta$-II, III Adrenergic receptor (AR) gene polymorphism upon obesity and dietary intake. The average weight, height and BMI of the subjects were 160 cm, 54 kg, and 20.9 kg/$m^2$, respectively. The average triceps skinfold thickness, waist circumference, hip circumference and WHR were 21.7mm, 73.1cm, 93.3cm and 0.78, respectively. The results of body composition measurement using bioimpedance method, average body fluid, body protein, mineral mass and body fat were 29.271, 7.22 kg, 6.79 kg and 19.16 kg, respectively. A dietary survey was conducted using 24-hour recall method. Average calorie intake was 1621 ㎉, which is 81% of Korean RDA. We detected 182 (84.3%) Gln27 (QQ) homozygotes and 34 (15.7%) Gln27Glu (QE) heterozygotes for $\beta$-II AR polymorphism. For $\beta$-III AR polymorphism, we detected 163 (75.5%) Trp64 (WW) and 53 (24.5%) Trp 64Arg (WR). The results of comparing of obesity by $\beta$-II AR gene polymorphism, obesity index and BMI of QE type were slightly higher than those of the QQ type. For $\beta$-III AR gene polymorphism, the mean BMI, obesity index, fat mass and percent body fat (%) of the WR type were significantly higher than those of the WW type (p < 0.05). These findings suggest that genetic variability in the human $\beta$-III AR is associated with obesity among young Korean females. We also evaluated the effect of the simultaneous presence of the $\beta$-II AR and $\beta$-III AR polymorphism on obesity. We found that the BMI and obesity index of the mutant type in both $\beta$-II AR and $\beta$-III AR were significantly higher than those of the type that has only one gene mutation or has no mutation (p < 0.05), indicating a synergistic effect of $\beta$-II AR and $\beta$-III AR polymorphism on obesity. No association was found between $\beta$-II Ad or $\beta$-III AR polymorphism and dietary intake.

A Study on the Methodologies for the Classification of Sasang Constitution by Analysis of Genetic Polymorphism (유전자를 이용한 체질유형감별(體質類型鑑別)의 방법론(方法論)에 관한 고찰(考察))

  • Ha, Man-soo;Koh, Byung-hee;Song, Il-byung
    • Journal of Sasang Constitutional Medicine
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    • v.11 no.2
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    • pp.185-194
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    • 1999
  • Recently some report has been published on the classification of Sasang constitution by analysis of genetic polymorphism. In this study, to present the ideas in the study on the classification of Sasang constitution based on the genetic variation of individuals, we reviewed the previous studies dealing with relationship between genetic polymorphism and Sasang constitution and suggested new molecular biological methodologies applicable to the classification of Sasang constitution. The results were as follow; 1. In the studies on the classification of constitution by analysis of genetic polymorphism, the special genes were desirable as subjects rather than the non-functional part of genome such as inter-gene and intron. Since microsatellite is usually located in inter-gene or intron, representation of constitutions may not associated with the polymorphism of certain microsatellite. 2. It may possible that polymorphism patterns of the genes related to the expression of individuality is associated with the types of Sasang constitutions. Therefore, angiotensin converting enzyme (ACE) which known have some role in the determination the human performance is one of the candidate genes can use for the classification of Sasang constitutions. 3. It is well known that HLA types are very variable in human and closely associated with the determination of susceptibility for certain disease. The studies on the polymorphism of HLA types may applicable to the classification of Sasang constitutions. 4. DNA chip technique which developed recently for the analysis of the expression of human genes may powerful tools in the study of Sasang medicine.

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Dispersal Polymorphisms in Insects-its Diversity and Ecological Significance (곤충의 분산다형성-그의 다양성과 생태학적 의의)

  • 현재선
    • Korean journal of applied entomology
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    • v.42 no.4
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    • pp.367-381
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    • 2003
  • Dispersal polymorphism in insects Is a kind of adaptive strategy of the life history together with the diapause, consisting of the “long-winged or alate forms” of migratory phase and the “short-winged or apterous forms” of stationary phase. Dispersal polymorphism is a polymorphism related with the flight capability, and has three categories ; the wing polymorphisms, flight muscle polymorphisms, and flight behavior variations. Phase variation is another type of dispersal polymorphism varying in morphology, physiology and wing forms in response to the density of the population. The dispersal migration is a very adaptive trait that enables a species to keep pace with the changing mosaic of its habitat, but requires some costs. In general, wing reduction has a positive effect on the reproductive potential such as earlier reproduction and larger fecundity The dispersal polymorphism is a kind of optimization in the evolutionary strategies of the life history in insects; a trade-off between the advantages and disadvantages of migration. Wing polymorphism is a phenotypically plastic trait. Wing form changes with the environmental conditions even though the species is the same. Various environmental factors have an effect on the dispersal polymorphisms. Density dependent dispersal polymorphism plays an important role In population dynamics, but it is not a simple function of the density; the individuals of a population may be different in response to the density resulting different outcomes in the population biology, and the detailed information on the genotypic variation of the individuals in the population is the fundamental importance in the prediction of the population performances in a given environment. In conclusion, the studies on the dispersal polymorphisms are a complicated field in relation with both physiology and ecology, and studies on the ecological and quantitative genetics have indeed contributed to understanding of its important nature. But the final factors of evolution; the mechanisms of natural selections, might be revealed through the studies on the population biology.

The Association between Korean Schizophrenics and Catalase Gene Polymorphism (한국인 정신분열병 환자와 Catalase 유전자 다형성의 연합)

  • Park, Jin-Kyung;Lee, Hee-Jae;Bahn, Geon-Ho;Park, Jong-Deuk;Chung, Joo-Ho;Chang, Hwan-Il
    • Korean Journal of Biological Psychiatry
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    • v.9 no.1
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    • pp.62-67
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    • 2002
  • Objective:There is increasing evidence that free radical-mediated CNS neuronal dysfunction is involved in the pathophysiology of schizophrenia. This study was performed to examine the relationship between antioxidant defense system and schizophrenia by analyzing polymorphism of catalase gene, an antioxidant enzyme. Method:Genotype and allele frequencies in the promoter region in the catalase gene using restriction fragment length polymorphism were studied, comparing 155 Korean controls with 167 Korean schizophrenics. Results:No difference was found between the schizophrenics and the controls in genotype and allele frequencies of HinfI polymorphism in the catalase gene. Significant difference was found between the female schizophrenics and the female controls in the genotype distribution(${\chi}^2$=11.096, df=2, p=0.004). Conclusions:The results do not support an association between polymorphism of catalase gene and schizophrenia. However, this study suggests that HinfI polymorphism in the catalase gene could be associated with female schizophrenics.

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