• Title/Summary/Keyword: polymorphism

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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.

Polymorphism of Dopamine Transporter Gene(DAT1) in Korean Social Phobia Patients:Preliminary Study (한국인에서의 도파민 수송체 유전자 다형성(Dopamine Transporter Gene(DAT1) Polymorphism)과 사회공포증과의 연관성에 관한 예비 연구)

  • Oh, Kang Seob;Yoon, Hyung Kun;Lee, Min Soo
    • Korean Journal of Biological Psychiatry
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    • v.11 no.2
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    • pp.165-172
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    • 2004
  • Objective:Although polymorphism of dopamine transporter gene(DAT1) has been considered to be implicated in the pathogenesis of social phobia, previous investigations have been inconsistent and controversial. The authors investigated the relationship between DAT1 polymorphism and social phobia in Koreans. Methods:DAT1 and alleles of fifty subjects who met DSM-IV criterion of social phobia, and those of age- & sex- matched fifty normal controls in Korea were compared. Additionally, patients were grouped into generalized(33) and nongeneralized(17) types and DAT1 polymorphism was compared with that of age- & sex- matched controls. DAT1 with variable number of tandem repeats(VNTR) were determined by using polymerase chain reaction. To compare the distribution of the DAT1 polymorphism between different groups, Fisher's exact test was used. Results:There were no significant differences in either genotypic(p=0.451) or allelic(p=0.452) distributions between the social phobia patients and the controls. There also were no differences in genotypic distribution between subtypes of social phobia patients and the controls. Conclusion:We couldn't find any association between DAT1 polymorphism and social phobia. Further studies including larger number of samples and diverse clinical variables should be conducted to elucidate the present findings.

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No Association between Genetic Polymorphism of Tryptophan Hydroxylase A218C and Serotonin Transporter Linked Polymorphic Region and Panic Disorder (한국인 공황장애 환자의 트립토판 가수분해 효소와 세로토닌 전달체 유전자 다형성)

  • Choi, Young Hee;Woo, Jong Min;Park, Hun Ku;Yoon, Kyung Sik;Cho, Dae Yeon;Lee, Min Soo
    • Korean Journal of Biological Psychiatry
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    • v.11 no.2
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    • pp.136-145
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    • 2004
  • Objectives:Genetic variations of the tryptophan hydroxylase(TPH) gene and the serotonin transporter linked polymorphic region(5-HTTLPR) polymorphism have been associated with its functional capacity. The authors investigated whether the allelic constitution of the TPH gene and 5-HTTLPR are associated in Korean panic patients. Methods:244 Korean patients with panic disorder and 227 normal healthy controls were tested for a genetic polymorphism of TPH A218C and 5-HTTLPR polymorphism. To assess the severity of panic disorder during the last one month, anticipatory anxiety, panic difficulty, panic distress, agoraphobic difficulty and agoraphobic distress were measured with visual analogue scale(VAS) score, STAI-S & T, BDI, SCL-90-R, ASI-R, CGI, PDSS, and HAMD. Results:There was no significant difference in genotype and allele frequencies of TPH A218C and 5-HTTLPR polymorphism between panic patients and controls. Although we observed some differences in genotype and allele frequencies of TPH A218C polymorphism among male subjects, these differences disappeared after Bonferroni correction. And there were no significant differences in clinical variables. Conclusion:Our results suggested that there are no association between the genetic polymorphism of TPH gene and 5-HTTLPR with panic disorder.

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Associations between the rs6010620 Polymorphism in RTEL1 and Risk of Glioma: a Meta-analysis of 20,711 Participants

  • Wu, Yao;Tong, Xiang;Tang, Ling-Li;Zhou, Kai;Zhong, Chuan-Hong;Jiang, Shu
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.17
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    • pp.7163-7167
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    • 2014
  • Background: Associations between the rs6010620 polymorphism in the regulator of telomere elongation helicase1 (RTEL1) gene and glioma have been widely reported but the results were not inconclusive. The aim of the current study was to investigate the association between the rs6010620 polymorphism in RTEL1 gene and risk of glioma by meta-analysis. Materials and Methods: We searched PubMed, Embase, Wanfang Weipu and CNKI (China National Knowledge Infrastructure) databases, which included all research published 05 May 2014. A total of 8,292 cases and 12,419 controls from 14 case-control studies involving the rs6010620 polymorphism in the RTEL1 gene were included. Statistical analysis was performed using STATA 12.0 software. Results: The results indicated that the rs6010620 polymorphism in RTEL1 gene was indeed associated with risk of glioma (OR=1.474, 95%CI=1.282-1.694, p<0.001). On subgroup analysis by ethnicity, we found associations between the rs6010620 polymorphism in the RTEL1 gene and risk of glioma in both Caucasians and Asians. Conclusions: The current meta-analysis suggested that the rs6010620 polymorphism in the RTEL1 gene might increase risk of glioma. In future, larger case-control studies are needed to confirm our results.

Relationship between angiotensin-converting enzyme gene polymorphism and muscle damage parameters after eccentric exercise

  • Kim, Jooyoung;Kim, Chang-Sun;Lee, Joohyung
    • Korean Journal of Exercise Nutrition
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    • v.17 no.2
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    • pp.25-34
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    • 2013
  • This study was conducted to investigate the relationship between ACE gene polymorphism and muscle damage parameters after eccentric exercise. 80 collegiate males were instructed to take an eccentric exercise with the elbow flexor muscle through the modified preacher curl machine for 2 sets of 25 cycles (total 50 cycles). The maximal isometric strength, muscle soreness, creatine kinase (CK), and myoglobin (Mb) were measured before exercise, and 0, 24, 48, 72, and 96 hrs after exercise. The result showed that after the eccentric exercise, the maximal isometric strength significantly decreased by more than 50% (p < 0.001) and the muscle soreness, CK, and Mb significantly increased compared to those before the exercise (p < 0.001). The ACE gene polymorphism of the subjects was classified using real-time polymerase chain reaction (real-time PCR). The result showed that it consisted of 38 cases of type II (46.4%), 33 cases of type ID (43.4%), and 9 cases of type DD (10.2%). The Hardy-Weinberg equilibrium for ACE gene polymorphism was shown to have p = 0.653, which showed that each allele was evenly distributed. Although significant differences in the changes in the maximal isometric strength, muscle soreness, CK, and Mb were found according to time course (p < 0.001), no significant differences in the changes in the maximal isometric strength, muscle soreness, CK, and Mb were found according to ACE gene polymorphism. Furthermore, no significant difference in the changes in the muscle damage parameters was found according to interaction between ACE gene polymorphism and time course (p > 0.05). In conclusion, the level of the muscle damage parameters changed in the injured muscle after eccentric exercise, but these changes in the muscle damage parameters were not affected by ACE gene polymorphism. The result of this study indicates that ACE gene is not a candidate gene that explains muscle damage.

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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A Single Nucleotide Polymorphism in Transforming Growth Factor-$\beta$ type II Receptor of the Rat

  • Ryu, Doug-Young
    • Toxicological Research
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    • v.16 no.1
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    • pp.59-61
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    • 2000
  • A single nucleotide polymorphism in the transforming growth factor-$\beta$ type II receptor (TGE$\beta$RII) gene of the rat was studied. TGF$\beta$RII is a tumor suppressor that is frequently inactivated by mutation in human colon cancers. A novel nucleotide polymorphism of G to A(or A to G), which causes a silent mutation at codon 129, was found in G:C rich sequence in the TGF$\beta$RII gene of Sprague-Dawley rats. The results suggest that genetic polymorphism occures without a strain of the laboratory animal.

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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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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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    • 2003.05a
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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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Angiotensin-Converting Enzyme Gene Polymorphism is not Associated with Myocardial Infarction in Koreans

  • Chai, Seok;Sohn, Dong-Ryul
    • The Korean Journal of Physiology and Pharmacology
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    • v.2 no.5
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    • pp.645-650
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    • 1998
  • To assess the relationship between angiotensin-converting enzyme (ACE) gene polymorphism and myocardial infarction in Koreans, we recruited 112 healthy, unrelated subjects (mean age 53.4 years) and 104 myocardial infarction survivors (mean age 54.2 years) of both sexes. An insertion/deletion (I/D) polymorphism of the ACE gene was typed by polymerase chain reaction. The I allelic frequency of ACE gene in Korean subjects was irrelavant to myocardial infarction (patients, 65 control subjects 66%), as was true with the D allele. When compared with other populations, the frequency of D allele in Koreans (0.34) was lower than that in Caucasians, and was close to that of other Oriental populations. The data suggest that the ACE gene polymorphism is not an independent genetic risk factor for myocardial infarction in Koreans.

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