• 제목/요약/키워드: polymorphism

검색결과 3,181건 처리시간 0.031초

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

  • 황우석;정승연;김진주;정희재;정승기
    • 대한한방내과학회지
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    • 제29권1호
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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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유전자를 이용한 체질유형감별(體質類型鑑別)의 방법론(方法論)에 관한 고찰(考察) (A Study on the Methodologies for the Classification of Sasang Constitution by Analysis of Genetic Polymorphism)

  • 하만수;고병희;송일병
    • 사상체질의학회지
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    • 제11권2호
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    • pp.185-194
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    • 1999
  • 근래에 유전자를 이용하여 체질(體質)을 객관화하려는 시도가 있었다. 이에 본인은 그 동안 한의학계(韓醫學係)에서 이루어진 유전자를 이용한 사상체질(四象體質)의 객관화 연구와 의학계 쪽의 연구 중에서 어느 정도 연관성이 있는 논문들을 비교 검토하여 앞으로 사상의학(四象醫學)에서 유전자를 이용한 연구를 하는데 있어서 방향설정을 하는데 도움이 되고자 본 논문을 쓰게 되었다. 그 결과를 요약하면 다음과 같다. 1. 유전자 polymorphism(다형성)이 기능성을 가진 것을 대상으로 하여야한다. 2. Microsatellite는 기능을 가지지 않는 부분이므로 이것의 polymorphism이 체질(體質)과 관련될 가능성은 적을 것으로 사료된다. 3. Angiotensin converting enzyme (ACE)은 일반적으로 체질(體質)과 관련이 있다고 믿어지는 인내력(忍耐力)을 결정하는데 중요한 유전자로 알려져 있는 바 이 효소의 polymorphism을 이용하여 체질(體質)을 분류하고자 한 시도는 의미가 있는 것으로 생각된다. 4. HLA는 다형성을 가지고 있고 HLA유전자의 발현에 따라 질병에 대한 감수성이 차이가 있다는 사실을 고려해 볼 때 앞으로 이 분야는 연구해볼 충분한 가치가 있는 것으로 생각된다. 5. DNA chip의 사용이 보편화되면 사상체질(四象體質)의 객관화에 많은 도움이 될 것으로 생각된다.

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

  • 김상하;전태연
    • 생물정신의학
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    • 제19권3호
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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.

SULT1A1 Arg213His Polymorphism and Lung Cancer Risk: a Meta-analysis

  • Liao, Shao-Guang;Liu, Lu;Zhang, Ying-Yi;Wang, Ying;Wang, Ya-Jie
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권2호
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    • pp.579-583
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    • 2012
  • Background: The SULT1A1 Arg213His polymorphism is reported to be associated with lung cancer risk. However, this relationship remains controversial. For better understanding a meta-analysis was therefore performed. Methods: An extensive search was performed to identify all case-control studies investigating association between SULT1A1 Arg213His polymorphism and lung cancer risk. The strength was assessed by odds ratio (OR) with the corresponding 95% confidence interval (95%CI). Results: A total of five publications covering 1,669 cases and 1,890 controls were included in this meta-analysis. No significant association between SULT1A1 Arg213His polymorphism and lung cancer risk was observed in overall comparisons in all genetic models (dominant model: OR=1.33, 95%CI=1.00-1.76, P=0.05; additive model: OR=1.30, 95%CI=0.93-1.81, P=0.12; recessive model: OR=1.21, 95%CI=0.89-1.66, P=0.23). However, on subgroup analysis, an elevated risk in mixed populations with variant His allele was revealed in the dominant model (OR=1.66, 95% CI=1.06-2.62, P=0.03). Furthermore, the SULT1A1 Arg213His polymorphism was associated with an increased risk of lung cancer in both females and males in the dominant model (females: OR=1.72, 95%CI=1.29-2.27, P=0.00; males: OR=1.46, 95%CI=1.19-1.78, P=0.00). No significant association between this polymorphism and different smoking status (smokers and non-smokers) and the other ethnicities (Asians and Caucasians) was shown. Conclusions: The results of this meta-analysis indicate that the SULT1A1 Arg213His polymorphism is not associated with lung cancer risk in Asians and Caucasians, but possible elevation for genotype (GA/AA) in mixed populations and males and females needs further investigation.

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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    • 제13권9호
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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 TP53 Arg72Pro Polymorphism and Hepatocellular Carcinoma Risk: A Meta-analysis

  • Xu, Chang-Tao;Zheng, Fang;Dai, Xin;Du, Ji-Dong;Liu, Hao-Run;Zhao, Li;Li, Wei-Min
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권9호
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    • pp.4305-4309
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    • 2012
  • Background: Previous studies on the association between the TP53 Arg72Pro polymorphism and hepatocellular carcinoma (HCC) risk obtained controversial findings. This study aimed to quantify the strength of the association by meta-analysis. Methods: We searched PubMed and Wangfang databases for published studies on the association between the TP53 Arg72Pro polymorphism and HCC risk, using the pooled odds ratio (OR) with its 95% confidence intervals (95% CI) for assessment. Results: 10 studies with a total of 2,026 cases and 2,733 controls were finally included into this meta-analysis. Overall, the TP53 Arg72Pro polymorphism was not associated with HCC risk (all P values greaterth HCC risk in Caucasians in three genetic models (For Pro versus Arg, OR = 1.20, 95%CI 1.03-1.41; For ProPro versus ArgArg, OR = 1.74, 95%CI 1.23-2.47; For ProPro versus ArgPro/ArgArg, OR = 1.85, 95%CI 1.33-2.57). However, there was no significant association between the TP53 Arg72Pro polymorphism and HCC risk in East Asians (all P values greater than 0.10). No evidence of publication bias was observed. Conclusion: Meta-analyses of available data suggest an obvious association between the TP53 Arg72Pro and HCC risk in Caucasians. However, the TP53 Arg72Pro polymorphism may have a race-specific effect on HCC risk and further studies are needed to elucidate this possible effect.

The Association between the T102C Polymorphism of the HTR2A Serotonin Receptor Gene and HDL Cholesterol Level in Koreans

  • Choi, Jin-Ho;Zhang, Shu-Ying;Park, Kyung-Woo;Cho, Young-Seok;Oh, Byung-Hee;Lee, Myoung-Mook;Park, Young-Bae;Kim, Hyo-Soo
    • BMB Reports
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    • 제38권2호
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    • pp.238-242
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    • 2005
  • 5-HT2A is one of major serotonin receptor that is involved in the action of serotonin-targeting drugs. Previous clinical studies have shown an unexpected association between lower cholesterol level and psychiatric diseases, in which T102C polymorphism of HTR2A, gene of 5-HT2A serotonin receptor, might be involved. Therefore, we hypothesized a potential association between lower cholesterol level and T102C polymorphism. The effect of the T102C polymorphism on the serum lipid profiles of 646 subjects without specific psychiatric disease was investigated. Genotype was determined by polymerase chain reaction and restriction fragment length polymorphism analysis. There were significantly lower levels of total cholesterol ($193.6{\pm}35.0$ versus $202.1{\pm}45.5\;mg/dl$, p = 0.016) and HDL-cholesterol ($42.7{\pm}11.6$ versus $46.3{\pm}12.7\;mg/dl$, p = 0.004) in CC genotype than non-CC genotypes. Moreover, multivariate analysis showed that the CC genotype is a strong predictor of a lower HDL-cholesterol level (p < 0.001). In conclusion, this study shows that the CC genotype of the HTR2A gene is related to lower HDL-cholesterol level in Koreans. This is the first demonstration showing the potential genetic relationship between the serotonin receptor gene polymorphism and the HDL-cholesterol level.

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

  • 박진경;이희제;반건호;박종득;정주호;장환일
    • 생물정신의학
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    • 제9권1호
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    • pp.62-67
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    • 2002
  • 본 연구에서는 정신분열병과 antioxidant defense system사이의 관련성을 알아보기 위해 항산화 효소(antioxidant enzyme)중의 하나인 CAT의 유전자 다형성을 한국인 정신분열병 환자군과 대조군 사이에서 비교 분석하였다. 환자군과 대조군의 HinfI 다형성에 따른 CAT유전자형과 대립유전자형의 빈도는 통계적으로 유의한 차이는 없었지만, 여성 정신분열병 환자군과 여성 대조군 사이의 유전자형 빈도에서는 통계적으로 유의한 차이를 나타내었다. 연구결과 CAT유전자가 여성 정신분열병과 관련이 있을 수 있다는 가능성이 제시된다.

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The RTEL1 rs6010620 Polymorphism and Glioma Risk: a Meta-analysis Based on 12 Case-control Studies

  • Du, Shu-Li;Geng, Ting-Ting;Feng, Tian;Chen, Cui-Ping;Jin, Tian-Bo;Chen, Chao
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권23호
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    • pp.10175-10179
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    • 2015
  • Background: The association between the RTEL1 rs6010620 single nucleotide polymorphism (SNP) and glioma risk has been extensively studied. However, the results remain inconclusive. To further examine this association, we performed a meta-analysis. Materials and Methods: A computerized search of the PubMed and Embase databases for publications regarding the RTEL1 rs6010620 polymorphism and glioma cancer risk was performed. Genotype data were analyzed in a meta-analysis. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the association. Sensitivity analyses, tests of heterogeneity, cumulative meta-analyses, and assessments of bias were performed in our meta-analysis. Results: Our meta-analysis confirmed that risk with allele A is lower than with allele G for glioma. The A allele of rs6010620 in RTEL1 decreased the risk of developing glioma in the 12 case-control studies for all genetic models: the allele model (OR=0.752, 95%CI: 0.715-0.792), the dominant model (OR=0.729, 95%CI: 0.685-0.776), the recessive model (OR=0.647, 95%CI: 0.569-0.734), the homozygote comparison (OR=0.528, 95%CI: 0.456-0.612), and the heterozygote comparison (OR=0.761, 95%CI: 0.713-0.812). Conclusions: In all genetic models, the association between the RTEL1 rs6010620 polymorphism and glioma risk was significant. This meta-analysis suggests that the RTEL1 rs6010620 polymorphism may be a risk factor for glioma. Further functional studies evaluating this polymorphism and glioma risk are warranted.

Association between the MDM2 T309G Polymorphism and Leukemia Risk: a Meta-analysis

  • Yan, Yu-Lan;Han, Feng;Tan, Wen-Min;Wu, Cui-Ping;Qin, Xi
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권16호
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    • pp.6767-6772
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    • 2014
  • Several studies have suggested associations between MDM2 (mouse double minute 2 homolog) polymorphisms and leukemia risk, but they reported contradictory results. For better understanding of the effect of MDM2 T309G polymorphism on leukemia risk, we performed a meta-analysis. All eligible studies were identified through a search of PubMed, Web of Science, EMBASE, and Chinese Biomedical Literature (CBM) databases before May 2014. Assessment of associations between the MDM2 T309G polymorphism and leukemia risk was conducted by odds ratios (ORs) and 95% confidence intervals (95% CIs). Finally, a total of 11 publications covering 12 case-control studies with 2, 362 cases and 5, 562 controls concerning MDM2 T309G polymorphism with respect to leukemia were included in the meta-analysis. Significant associations were found between MDM2 T309G polymorphism and leukemia risk in four models in overall populations (G vs T: OR=1.29, 95% CI=1.11-1.49, p=0.001; GG vs TT: OR=1.67, 95% CI=1.21-2.30, p=0.002; GG vs TG/TT: OR=1.56, 95% CI=1.21-2.00, p=0.001; GG/TG vs TT: OR=1.28, 95% CI=1.05-1.57, p=0.015). In the sub-group analysis according to ethnicity, increased leukemia risks were observed in three genetic models among Asians but not Caucasians. In conclusion, the results of our meta-analysis suggest that the MDM2 T309G polymorphism can increase the risk of leukemia, especially among Asian populations.