• Title, Summary, Keyword: gene polymorphism

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Genetic Variations of Eight Candidate Genes in Korean Obese Group

  • Kang, Byung-Youn;Lee, Kang-Oh;Bae, Joon-Seol;Kim, Ki-Tae;Yoon, Moon-Young;Lim, Seok-Rhin;Seo, Sang-Beom;Shin, Jung-Hee;Lee, Chung-Choo
    • Environmental Mutagens and Carcinogens
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    • v.22 no.1
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    • pp.39-46
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    • 2002
  • Obesity is a complex metabolic disorder with a strong genetic component. There are many candidate genes for obesity and its related phenotypes. We studied genetic variations between Korean obese and lean groups. Polymorphisms investigated were the Msp I polymorphism of the $\alpha$$_{2A}$-adrenergic receptor ($\alpha$$_{2A}$-AR) gene, the Mnl I polymorphism of the $\alpha$$_2$-adrenergic receptor ($\alpha$$_2$-AR) gene, the BstO I polymorphism of the $\beta$$_3$-adrenergic receptor ($\beta$$_3$-AR) gene, the Pml I polymorphism of the lamin A/C (LMNA) gene, the Hga I polymorphism of the clearance receptor (NPRC) gene, the Msp I polymorphism of the leptin gene, BclI polymorphism of the uncoupling protein 1 (UCPI) gene and the Hha I polymorphism of the fatty acid binding protein 2 (FABP2) gene. Among these genetic markers, Pml I polymorphism at the LMNA gene and Bcl I polymorphism at the UCP1 gene were significantly associated with obesity. However, further studies are required whether thease findings are reproduced in large population, although two polymorphisms might be useful as genetic markers in the ethiology of obesity in Korean population.ion.

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Dopamine Transporter Gene and Dopamine D2, D3, D4 Receptor Gene Polymorphisms in Attention Deficit Hyperactivity Disorder (주의력결핍 과잉행동장애에서 도파민 전달체 및 도파민 D2, D3, D4 수용체 유전자 다형성)

  • Park, Pil-Sang;Kim, Dae-Kwang;Jung, Chul-Ho
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.19 no.1
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    • pp.19-27
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    • 2008
  • Objectives : The aim of this study was to examine the association of attention-deficit hyperactivity disorder (ADHD) in Korean populations with functional polymorphisms of six genes dopamine receptors (Ser311/Cys311 polymorphism, Taq1 A polymorphism, and Taq1 B polymorphism in DRD2, BalI polymorphism in DRD3, and promoter -521 C/T polymorphism and exon III 48 bp repeat polymorphism in DRD4) and one gene in dopamine transporter (DAT1). Methods : Participants were 58 children with ADHD and 110 control children. The genotypes were determined by PCR. Results : There was a statistically significant difference in genotype frequency of -521 C/T polymorphism within the promoter region of the DRD4 between two groups. Furthermore, in the male group, both genotype and allele frequencies showed statistically significant differences. Conclusion : Findings of the study indicate that -521 C/T polymorphism in promoter region of DRD4 appears to be a possible candidate gene for ADHD in Korean population.

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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.

The G801A Polymorphism in the CXCL12 Gene and Risk of Breast Carcinoma: Evidence from a Meta-Analysis Including 2,931 Subjects

  • Xia, Yong;Guo, Xu-Guang;Ji, Tian-Xing
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.6
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    • pp.2857-2861
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    • 2014
  • More and more evidence indicates that the G801A polymorphism in the CXCL12 gene might be associated with susceptibility to breast carcinoma in humans being. However, individually published results have been inconsistent. The purpose of this meta-analysis was to investigate the association between the G801A polymorphism in the CXCL12 gene and breast carcinoma risk. A complete search strategy was done by the electronic databases including PubMed and Chinese Biomedical Literature Database. A meta-analysis including seven individual studies was carried out in order to explore the association between the G801A polymorphism in the CXCL12 gene polymorphisms and breast carcinoma. The pooled odds ratios (ORs) and their corresponding 95% confidence intervals (95%CIs) between the G801A polymorphism in the CXCL12 gene and breast carcinoma risk were assessed by the random-effects model. A significant relationship between the G801A polymorphism in the CXCL12 gene and breast carcinoma was discovered in an allelic genetic model (OR: 1.214, 95%CI: 1.085-1.358, p=0.001), a homozygote model (OR: 1.663, 95%CI: 1.240-2.232, p=0.001), a heterozygote model (OR: 1.392, 95%CI: 1.190-1.629, p=0.000), a recessive genetic model (OR: 1.407, 95%CI: 1.060-1.868, p=0.018) and a dominant genetic model (OR: 1.427, 95%CI: 1.228-1.659, p=0.000). On sub-group analysis based on ethnicity, significance was observed between the European group and the mixed group. A significant relationship was found between the G801A polymorphism in the CXCL12 gene and breast carcinoma risk. Individuals with the A allele of the G801A polymorphism in the CXCL12 gene are under a higher risk for breast carcinoma.

The Effect of Trp64Arg Polymorphism in the ${\beta}_3$-Adrenergic Receptor Gene on Blood Pressure, Body Composition and Bone Mineral Density in Athletes (운동선수의 베타3-아드레날린성 수용체 유전자의 Trp64Arg 다형성이 혈압, 신체조성 및 골밀도에 미치는 영향)

  • Jung In Geun;Oh Sang Duk;Kim Tae Wook;Kang Byung Yong;Ha Nam Joo;Ha Nam Joo
    • YAKHAK HOEJI
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    • v.49 no.1
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    • pp.44-50
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    • 2005
  • The purpose of this study was to investigate the relationship between Trp64Arg polymorphism in the ${\beta}_3$-adrenergic receptor gene and complex phenotypes such as blood pressure, body compositions and bone parameters in young men about 20 years, and to collect the fundamental data in designing the exercise program. Eighty healthy young men including 41 controls and 39 athletes were recruited, Trp64Arg polymorphism in the ${\beta}_3$-adrenergic receptor gene was genotyped by PCR-RFLP method. By association study, there were no significance in genotype and allele frequencies of Trp64Arg polymorphism in the ${\beta}_3$-adrenergic receptor gene between controls and athletes, respectively (p>0.05). When the relationship between physiological parameters and Trp64Arg polymorphism in the ${\beta}_3$-adrenergic receptor gene was tested, this polymorphism was significantly associated with 3th lumber and left femoral neck Z-score values in controls (p<0.05), but these associations were not detected in athletic groups (p>0.05). It is likely that Trp64Arg polymorphism in the ${\beta}_3$-adrenergic receptor gene is a genetic marker for the bone mineral density index in young men, but environmental factors such as exercise modify the significant effect of this polymorphism. Thus, our results suggest that Trp64Arg polymorphism in the ${\beta}_3$-adrenergic receptor gene may be applicable as a predictive marker for osteoporosis in Korean young men, and regular exercise may prevent the disadventageous effect of this polymorphism for bone mineral density in male athletic group.

Genetic Variations in Six Candidate Genes for Insulin Resistance in Korean Essential Hypertensives

  • Bae, Joon-Seol;Kang, Byung-Yong;Kim, Ki-Tae;Shin, Jung-Hee;Lee, Chung-Choo
    • Animal cells and systems
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    • v.5 no.4
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    • pp.341-346
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    • 2001
  • Hypertension is a complex disease with strong genetic influences. Essential hypertension has been shown to be associated with insulin resistance. To clarify the genetic basis of insulin resistance in Hypertension, case-control association studies were performed to examine candidate genes for insulin resistance in hypertension. Polymorphisms investigated were the BstO I polymorphism of the $\beta$3-adrenergic receptor (ADRB3) gene, the Xba I Polymorphism of the glycogen synthase (GSY) gene, the Dde I polymorphism of the protein phosphatase 1 G subuit (PP1G) gene, the BstE II polymorphism of the glucagon receptor (GCG-R) gene, the Pst 1 polymorphism of the insulin (INS) gene and the Acc I polymorphism of the glucokinase (GCK) gene. No significant differences were observed in the distribution of alleles and genotypes of the ADRB3, GSY PP1G, GCG-R, INS, and GCK genes between hypertensive and normotensive groups. Although the frequencies in each of these polymorphisms were not significantly different between essential hypertensive and normotensive individuals, our results may provide additional information for linkage analysis and associative studies of disorders in carbohydrate metabolism or in cardiovascular disease.

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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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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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Genetic Polymorphism of CCK Promotor Region and Sasang Constitution (사상체질의 Cholecystokinin 유전자 단일염기다형성 연구)

  • Lee Soo-Kyung;Lee Seong-Gene
    • The Journal of Korean Medicine
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    • v.25 no.3
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    • pp.105-110
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    • 2004
  • Objectives : Sasang Constitutional Medicine is based on the diversity of human beings and medically developing a variation of responses to diseases and medicines. This diversity is categorized into four concerning morphology, physiology, pathology, and pharmacology. It is supposed that sasang constitutional medicine is related the genetic diversity of individuals. Single nucleotide polymorphism is the basic tool to research genetic polymorphism as a landmark of genomes. Each constitution has different processes of pathophysiology and metabolisms to herb medications. In clinical research, the stroke incidence is significantly different by constitution. Methods : We researched whether the polymorphic expression of CCK (rs=2241997) depends on sasang constitution. The [c/t] polymorphism site of promotor region of CCK gene on 3p22-p21.3 was investigated. Results : The allele frequency of [c/t] polymorphism of CCK promotor region was different in constitution groups compared to the average allele frequency of SNP DB. The allele frequencies of Soeumin and Soyangin groups were (c:0.70/t:0.30). and (c:0.71/t:0.29), that of Taeumin group was (c:0.57/t:0.43) and of Taeyangin group was (c:1.00/t:0.00) Conclusions : It was regarded the [c/t] polymorphism of CCK promotor region is available to classify the constitution. However, it is necessary to research about CCK gene polymorphism and more constitution population groups. It is also necessary to research the more functional gene's polymorphism and sasang constitution.

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An Association Study of COMT Gene Polymorphism with Korean Alcoholism (한국인 알코올리즘과 Catechol-O-methyltransferase(COMT) 유전자 다형성의 연합)

  • Kim, Min-Jung;Yang, Byung-Hwan;Lee, Jung-Sik;Chai, Young-Gyu;Park, Taek-Kyu
    • Korean Journal of Biological Psychiatry
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    • v.8 no.1
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    • pp.111-115
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    • 2001
  • An association study with Korean alcoholic patients(n=50) and normal controls(n=53) was performed to find the relationship between catechol-O-methyltransferase(COMT) gene polymorphism and alcoholism using polymerase chain reaction-restriction fragment length polymorphism. When we compared the allele and genotype frequencies of Nla III COMT gene polymorphism in alcoholism and normal controls, there was no significant difference between two groups. Our results do not support an association between the Nla III polymorphism of COMT gene and alcoholism.

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