• Title/Summary/Keyword: polymorphism

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Methylenetetrahydrofolate Reductase C677T Polymorphism and Cervical Cancer Risk: a Meta-Analysis

  • Guo, Li-Na
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.5
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    • pp.2193-2197
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    • 2012
  • Background: Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the metabolism of folate, and the role of MTHFR C677T polymorphism in cervical carcinogenesis is still controversial. Method: We performed a meta-analysis of all relevant case-control studies that examined any association between the C677T polymorphism and cervical cancer risk. We estimated summary odds ratios (ORs) with their confidence intervals (CIs) to assess links. Results: Finally, 10 studies with a total of 2113 cervical cancer cases and 2804 controls were included. Results from this meta-analysis showed that significantly elevated cervical cancer risk was associated with the MTHFR T allele in the Asian population under conditions of two genetic comparison models (for TT vs. CC, OR = 1.37, 95%CI 1.00-1.87, P = 0.050; for TT vs. TC+CC: OR = 1.34, 95%CI 1.01-1.77, P = 0.039). However, there was no obvious association between the MTHFR C677T polymorphism and cervical cancer risk in the other populations. Conclusion: The MTHFR C677T polymorphism is associated with cervical cancer risk in Asians, while any possible link in the Caucasian population needs further studies.

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.

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.

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.

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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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.

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.

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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Association Study of Single-Nucleotide Polymorphism in Lymphotoxin Alpha Gene and Bipolar I Disorder (제1형 양극성 장애와 Lymphotoxin Alpha 유전자 단일염기 다형성 연관 연구)

  • Kim, Sang-Ha;Jun, Tae-Youn
    • Korean Journal of Biological Psychiatry
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    • v.19 no.3
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    • pp.134-139
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    • 2012
  • Objectives : Proinflammatory process has been implicated as an underlying mechanism of bipolar disorder and schizophrenia. Previous studies have suggested a possible role of lymphotoxin alpha (LTA) gene in the development of schizophrenia and have prompted further investigation in bipolar patients. Association of the LTA +252A/G polymorphism with susceptibility to bipolar I disorder itself as well as with vulnerability among a subset of psychotic bipolar patients were tested. Methods : DNA extraction was done by a standard method and genotyping was carried out by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 114 Korean patients with bipolar I disorder and 202 healthy controls. SPSS v18.0 was used for statistical analysis. Comparisons of the genotype and allele distributions in LTA +252A/G polymorphism were made using a chi-square test. The genotype and allele associations were also evaluated using odds ratio (OR) and 95% confidence interval (CI). Statistical significance was accepted when p was < 0.05. Results : No significant association was found between the LTA +252A/G polymorphism and bipolar disorder. However, LTA +252G allele was present with significantly higher frequency among bipolar patients with psychotic features compared to those without (${\chi}^2$ = 4.69, p = 0.034, OR = 2.495, 95% CI = 1.069-5.827). Conclusion : The results suggest that the allele LTA +252G of the polymorphism may be associated with the psychotic subset of bipolar disorder but not with bipolar I disorder itself. Adequately powered subsequent studies should be conducted.