• Title, Summary, Keyword: polymorphism

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Association between Panic Disorder and Dopamine D2 Receptor TaqI A Polymorphism (공황장애와 도파민 D2 수용체 TaqI A 다형성의 관련)

  • Lim, Se-Won;Kim, Bum-Jo;Oh, Kang-Seob;Lee, Min-Soo
    • Anxiety and mood
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    • v.2 no.1
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    • pp.45-49
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    • 2006
  • Puropse : Disturbances of dopaminergic system might be related to the possible mechanism of panic disorder. This study was aimed to examine the association of DRD2 Taq 1 polymorphism and panic disorder. Methods : One hundred and fourteen patients with panic disorder (62 male (54.4%), mean age $40.96{\pm}0.11$ years) and 200 comparison subjects (114 male (57.0%), mean age $35.57{\pm}8.81$ years)were tested for DRD2 TaqI A polymorphism. We excluded panic patients with comorbid alcohol related disorders, bipolar disorders, and any kinds of psychotic disorders because there have been some reports about association of these disease and DRD2 TaqI A polymorphism. Results : There was significant difference in the frequency of the genotype in DRD2 polymorphism between patients and controls (${\chi}^2$=6.09, df=2, p=0.048). The A1+ allele (A1A1 and A1A2) frequency analysis also showed significant association (${\chi}^2$=4.08, df=1, p=0.043). In addition, we observed a more strong and specific association between panic disorder and the A1+ allele of the DRD2 TaqI polymorphism for men (${\chi}^2$=4.71, df=1, p=0.03), but not for women (${\chi}^2$=0.45, df=1, p=0.50). Conclusion : These results in our Korean sample suggest that the DRD2 TaqI A polymorphism may be associated with panic disorder. Furthermore, we found sex-specific association of DRD2 A1 allele with panic disorder.

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Sex-specific differences in the association of a common aldehyde dehydrogenase 2 gene polymorphism and alcohol consumption with stroke risk in a Korean population: a prospective cohort study

  • Shin, Chol;Kwack, KyuBum;Cho, Nam H.;Kim, Seong Hwan;Baik, Inkyung
    • Nutrition Research and Practice
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    • v.9 no.1
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    • pp.79-86
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    • 2015
  • BACKGROUND/OBJECTIVES: It is well-known that alcohol consumption is associated with stroke risk as well as with aldehyde dehydrogenase 2 gene (ALDH2) polymorphisms. However, it is unclear whether ALDH2 polymorphisms are associated with stroke risk independent of alcohol consumption and whether such association is modified by sex. We evaluated sex-specific associations of a common ALDH2 polymorphism and alcohol consumption with stroke risk in a Korean population. SUBJECTS/METHODS: We conducted a prospective cohort study involving 8,465 men and women, aged 40-69 years and free of stroke between June, 2001 and January, 2003, and followed for the development of stroke. We identified new cases of stroke, which were self-reported or ascertained from vital registration data. Based on genome-wide association data, we selected a single-nucleotide polymorphism (rs2074356), which shows high linkage disequilibrium with the functional polymorphism of ALDH2. We conducted Cox proportional hazards regression analysis considering potential risk factors collected from a baseline questionnaire. RESULTS: Over the median follow-up of 8 years, 121 cases of stroke were identified. Carrying the wild-type allele of the ALDH2 polymorphism increased stroke risk among men. The multivariate hazard ratio [95% confidence interval] of stroke was 2.02 [1.03-3.99] for the wild-type allele compared with the mutant alleles, but the association was attenuated after controlling for alcohol consumption. Combinations of the wild-type allele and other risk factors of stroke, such as old age, diabetes mellitus, and habitual snoring, synergistically increased the risk among men. Among women, however, the ALDH2 polymorphism was not associated with stroke risk. CONCLUSIONS: The prospective cohort study showed a significant association between a common ALDH2 polymorphism and stroke risk in Korean men, but not in Korean women, and also demonstrated that men with genetic disadvantages gain more risk when having risk factors of stroke. Thus, these men may need to make more concerted efforts to control modifiable risk factors of stroke.

Lack of Association between the MiR146a Polymorphism and Susceptibility to Thai Childhood Acute Lymphoblastic Leukemia

  • Chansing, Kochpinchon;Pakakasama, Samart;Hongeng, Suradej;Thongmee, Acharawan;Pongstaporn, Wanida
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.5
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    • pp.2435-2438
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    • 2016
  • Background: MiRNAs, small non coding RNAs, play a role in the regulation of hematopoiesis, with effects on cell growth, differentiation, and apoptosis. In addition, MiRNAs are thought to play an important role in tumorigenesis. The miR146a G>C polymorphism can lead to alteration of miR146 expression, which appears to be associated with development and progression of several cancers. This study aimed to investigate the association of the miRNA146a (rs2910164) G>C polymorphism and susceptibility to childhood acute lymphoblastic leukemia (ALL) and clinical outcomes. Materials and Methods: Totals of 100 childhood ALL patients and 200 healthy children were studied for miR146a polymorphisms using polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP). Results: The frequency of the miR146a G allele in controls was 0.40 compared with 0.38 in ALL patients. There was no association between miRNA146a (rs2910164) G>C polymorphism and susceptibility to childhood ALL (OR=1.484, 95%CI=0.712-3.093, p=0.290). Moreover, the frequencies of miR146a (rs2910164) G>C polymorphism were not associated with demographic data and clinical outcomes in ALL cases. Conclusions: The miRNA146a polymorphism was not significantly associated with susceptibility to Thai childhood ALL or any clinico-pathological variables.

Correlation between Selected XRCC2, XRCC3 and RAD51 Gene Polymorphisms and Primary Breast Cancer in Women in Pakistan

  • Qureshi, Z.;Mahjabeen, I.;Baig, R.M.;Kayani, M.A.
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.23
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    • pp.10225-10229
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    • 2015
  • Genetic polymorphisms in homologous recombination repair genes cause an abnormal development of cancerous cells. In the present study we evaluated the possibility of breast cancer association with single nucleotide polymorphisms of RAD51, XRCC2 and XRCC3 genes. Polymorphisms selected in this study were RAD51 135G/C, XRCC2 Arg188His; and XRCC3 Thr241Met. Each polymorphism was genotyped using Polymerase chain reaction-restriction fragment length polymorphism in study cohort of 306 females (156 breast cancer patients and 150 controls). We observed that heterozygous variant genotype (GC) of RAD51 135 G/C polymorphism was associated with a significantly (OR=2.70; 95%CI (0.63-1.79); p<0.03) increased risk of breast cancer. In case of the XRCC3 gene we observed that frequency of heterozygous (OR=2.88; 95%CI (1.02-8.14); p<0.02) and homozygous (OR=1.46; 95%CI (0.89-2.40); p<0.04) genotype of Thr241Met polymorphism were significantly higher in breast cancer patients. For the Arg188His polymorphism of XRCC2, ~2fold increase in breast cancer risk (OR=1.6, 95%CI = 0.73-3.50) was associated with GA genotype with a p value for trend of 0.03. Our results suggest that the 135G/C polymorphism of the RAD51, Thr241Met polymorphism of XRCC3 and Arg188His polymorphism of XRCC2 can be independent markers of breast cancer risk in Pakistan.

Association between the XRCC3 Thr241Met Polymorphism and Risk of Colorectal Cancer: a Meta Analysis of 5,193 Cases and 6,645 Controls

  • Namazi, Abolfazl;Abedinzadeh, Maryam;Nourbaksh, Parisa;Neamatzadeh, Hossein
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.6
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    • pp.2263-2268
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    • 2015
  • Background: Many studies have reported associations of the X-ray repair cross-complementing group 3 (XRCC3) Thr241Met polymorphism with colorectal cancer (CRC) risk, but the results remained controversial. Hence, we performed the present meta-analysis with different inheritance models. Materials and Methods: We searched the PubMed and Google scholar databases for studies relating to associations between XRCC3 Thr241Met polymorphism and risk of CRC. 16 studies with 5,193 cases and 6,645 controls were finally included into the meta-analysis. Results: We found that the XRCC3 Thr241Met polymorphism was associated with increased CRC risk only under a dominant genetic model (CC+CT vs. TT: OR 0.575, 95%CI 0.498-1.665, p<0.001, $P_{heterogeneity}=0.00$, $I^2=83%$). There was a significant association between XRCC3 Thr241Met polymorphism and CRC risk in Caucasian in the overall 8 studies under only in the heterozygote genetic model (CT vs. TT: OR=0.929, 95%CI =0.806-1.070, P=0.308, $P_{heterogeneity}=0.002$, $I^2=57%$). Four studies evaluated the XRCC3 Thr241Met polymorphism and CRC risk in Asians. Two genetic models of the XRCC3 polymorphism were significantly correlated with increasing risk in Asians (dominant model: CC+CT vs. TT: OR= 0.609, 95%CI=411-0.902, P=0.013, $P_{heterogeneity}=0.54$, $I^2=0.00%$; Allele model: C vs. T: OR=0.708, 95 %=CI 0.605-0.829, p=0.000, $P_{heterogeneity}=0.000$, $I^2=92%$). The sensitivity analysis suggested stability of this meta-analysis and no publication bias was detected. Conclusions: In conclusion, this meta-analysis indicates that XRCC3 Thr241Met shows an increased CRC risk, particularly in Asians rather than Caucasians.

Association between the XRCC3 Thr241Met Polymorphism and Breast Cancer Risk: an Updated Meta-analysis of 36 Case-control Studies

  • Mao, Chang-Fei;Qian, Wen-Yi;Wu, Jian-Zhong;Sun, Da-Wei;Tang, Jin-Hai
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.16
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    • pp.6613-6618
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    • 2014
  • Background: The X-ray repair cross-complementing group 3 (XRCC3) is a highly suspected candidate gene for cancer susceptibility. Attention has been drawn upon associations of the XRCC3 Thr241Met polymorphism with breast cancer risk. However, the previous published findings remain controversial. Hence, we performed a meta-analysis to accurately evaluate any association between breast cancer and XRCC3 T241M (23, 812 cases and 25, 349 controls) in different inheritance models. Materials and Methods: PubMed and Web of Science databases were searched systematically until December 31, 2013 to obtain all the records evaluating the association between the XRCC3 Thr241Met polymorphism and breast cancer risk. Crude odds ratios (ORs) together with 95% confidence intervals (CIs) were used to assess the strength of associations. Results: When all eligible studies were pooled into the meta analysis of XRCC3 T241M polymorphism, a significantly increased breast cancer risk was observed in heterozygote comparison (OR=1.06, 95%CI=1.01-1.12). No significant associations were found in other models. In subgroup analysis, this polymorphism seemed to be associated with elevated breast risk in Asians. No publication bias was detected. Conclusions: This meta-analysis suggests that the T241M polymorphism confers a weakly increased breast cancer risk. A study with the larger sample size is needed to further evaluate gene-gene and gene-environment interactions of the XRCC3 T241M polymorphism with breast cancer risk.

Research of genetic polymorphisms of Sasang Constitution - focusing on SNP of MTHFR gene - (사상체질의 유전적 다형성 연구 - MTHFR의 단일염기다형성을 중심으로 -)

  • Song, Il-Byung;Lee, Su-Kyung
    • Journal of Sasang Constitutional Medicine
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    • v.13 no.2
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    • pp.177-181
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    • 2001
  • Sasang Constitutional Medicine is based on the diversity of Human being and medically developed the response variation to diseases and medicines. The diversity is categorized as four from physiology, pathology, symptoms, to therapy. So that is related the difference of individual characteristics in Western Science. Single nucleotide polymorphism is the basic tool to research genetic polymorphisms. We researched the polymorphism site of MTHFR gene on 1p36.3, which is relatively reported the occlusive vascular disease. In the clinical research of brain infarction, the occurrence was different according to constitution. The 677C/T Polymorphism site of MTHFR was not significantly different in constitution group. But this research was the first trial about the single nucleotide polymorphism according to constitution. The more researchs of many genes are necessary to find the characteristics of constitution.

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The Distribution of the Insertion/Deletion Polymorphism of the Endothelial Nitric Oxide Gene in Koreans (한국인에서 Endothelial Nitric Oxide Synthase 유전자의 Insertion/Deletion Polymorphism의 분포)

  • 김선정;강병용;배준설;김기태;이강오
    • Environmental Mutagens and Carcinogens
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    • v.22 no.3
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    • pp.183-186
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    • 2002
  • Hypertension is a multifactorial disease. Both genetic and environmental factors have been implicated in its etiology. Since the impairment of nitric oxide (NOS) production plays an important role in the pathogenesis of hypertension, endothelial nitric oxide synthase (ecNOS) gene is supposed to be a candidate gene of hypertension. Our study group investigated the 27 bp insertion/deletion (Ins/Del) polymorphism of ecNOS gene in 99 Korean normotensives and 98 hypertensives, respectively. There was no significant association with any cardiovascular risk factors as well as hypertension in Koreans. The Ins/Del polymorphism of the ecNOS gene indicated the similar allele distribution among ethnic groups studied. Further studies using larger sample size and subject information is required to describe the general picture of the association between the ecNOS gene polymorphic loci and hypertension

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The distribution of mitochondrial DNA 5178A/C polymorphism in Korean elite athletes

  • Jang, Dai-Ho;Kim, Seon-Jeong;Kang, Byun-Yong;Kim, Hyun-Hee;Lee, Kang-Oh
    • Proceedings of the Korea Society of Environmental Toocicology Conference
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    • pp.176-176
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    • 2003
  • In the previous studies, some genetic polymorphisms in the human mitochondrial DNA have been associated with athletic performance in several populations. To investigate the relationship between mitochondrial DNA 5178A/C polymorphism and athletic performance in Korean population, blood samples were collected from 100 male Korean elite athletes and 64 sedentary controls. There was no significant difference in allele frequency of mitochondrial DNA 5178A/C polymorphism between two groups (P > 0.05). However, 5178A allele frequency in Korean population was very higher than those in other populations studied. Because it has been reported that this genetic polymorphisms is associated with longevity, further study will be needed to clarify the relationship between this genetic polymorphism and life expectancy of Korean population.

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RFLP Analysis of Silkworms for DNA Polymorphism (RFLP에 의한 누에 계통간의 DNA 다형성 분석)

  • 강현아;성수일
    • Journal of Sericultural and Entomological Science
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    • v.37 no.1
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    • pp.16-26
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    • 1995
  • DNA restriction fragment length polymorphisms(RFLPs) were used for the classification of 22 leading silkworm races and wild silkworm, Bombyx mandarina. A genomic DNA library from silkworm was partially constructed and was prescreened to evaluate the selected DNA probes. Three DNA probes (SP1-13, SP1-28, 10-42) were selected to determine the polymorphism between silkworm races. As a result, high polymorphism with the probe SP1-28, moderate polymorphism with SP1-13 and monomorphism with 10-42 were obse-rbed.

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