• 제목/요약/키워드: polymorphism

검색결과 3,186건 처리시간 0.03초

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
    • /
    • 제14권5호
    • /
    • pp.3169-3173
    • /
    • 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
    • /
    • 제19권3호
    • /
    • pp.305-308
    • /
    • 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
    • /
    • 제15권14호
    • /
    • pp.5853-5860
    • /
    • 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.

정신분열병과 Catechol-O-methyltransferase(COMT) 유전자 다형성의 연합 (An Association Study of COMT Gene Polymorphism with Korean Schizophrenics)

  • 송은숙;양병환;박강규;이유상;안은숙;오동열;김종원;최인근;김길숙;채영규
    • 생물정신의학
    • /
    • 제5권2호
    • /
    • pp.210-214
    • /
    • 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.

  • PDF

Brain-Derived Neurotrophic Factor Val66Met 다형성과 정신분열병의 관련 연구 (An Association Study of the Brain-Derived Neurotrophic Factor Val66Met Gene Polymorphism and Schizophrenia)

  • 이화영;김대진;김용구
    • 생물정신의학
    • /
    • 제13권4호
    • /
    • pp.267-272
    • /
    • 2006
  • Objectives : Schizophrenia is a clinically heterogenous disease with a strong genetic component. Many studies have suggested that brain-derived neurotrophic factor(BDNF) is involved in the pathophysiology of schizophrenia. This study was performed to determine whether there is an association between BDNF Val66Met polymorphism and schizophrenia. Methods : To identify any genetic predisposition to schizophrenia, we investigated the BDNF Val66Met polymorphism in 106 patients with schizophrenia and 147 normal controls with PCR-RFLP method. Statistical analyses were used to test the association between and BDNF Val66Met genotype and Schizophrenia. Results : No association was found between BDNF Val66Met polymorphism and schizophrenia. No significant differences were found comparing the BDNF genotype distributions according to the age of onset, the number of admission and familial loading in schizophrenia. Conclusion : This result indicates that BDNF Val66Met polymorphism is not associated with schizophrenia. However, further studies with a large number of subjects are needed to confirm whether the BDNF gene is related to schizophrenia.

  • PDF

렙틴 수용체 유전자 다형성에 따른 대학생의 생화학 지표와 체지방 분포에 관한 연구 (Study on Biochemical Parameters and Body Fat Mass according to Leptin Receptor Polymorphism in University Students)

  • 김경희;조희숙
    • 동아시아식생활학회지
    • /
    • 제22권2호
    • /
    • pp.219-223
    • /
    • 2012
  • The purpose of this study was to investigate the body composition, biochemical parameters, and consumption of convenience foods according to leptin receptor polymorphism in university students. A survey was conducted on a total of 418 students - 271 males and 147 females. Based on a self-reporting method, questionnaires were administered for over 20 minutes, and leptin receptor and blood samples were analyzed. The genotype frequencies of leptin receptor polymorphism were Gln/Arg heterozygote (64.8%) and Gln/Gln homozygote (35.2%). Leptin polymormphism showed no significant association with biochemical parameters(ALT, cholesterol, triglyceride, HDL-cholesterol, LDL-cholesterol, and hemoglobin) and body composition. GG homozygote was associated with a higher risk of visceral fat obesity compared to those with GA heterozygote (odd ratio 1.758, 95% confidence intervals 0.812~3.803). Leptin polymorphism appeared to be a genetic risk factor for visceral fat obesity. This study suggests that leptin polymorphism has a causative role to body fat distribution in Korean.

Single Nucleotide Polymorphism in Cytochrome P450 2E1 among Korean Patients on Warfarin Therapy

  • Han, Dong-Hoon;Lee, Min-Jeon;Kim, Jeong-Hee;Lee, Suk-Hyang
    • Biomolecules & Therapeutics
    • /
    • 제14권4호
    • /
    • pp.189-193
    • /
    • 2006
  • This study was designed to assess the distribution of cytochrome P450 2E1 (CYP2E1) polymorphism among Korean patients on warfarin therapy. CYP2E1 polymorphism was analyzed at 5' flanking region of CYP2E1 gene using restriction fragment length polymorphism method. Patient characteristics including the measured internal normalized ratio (INR) were also evaluated. Based on the warfarin dose and the bleeding cases, the patients were grouped as the regular dose control, the regular dose bleeding, the low dose control, and the low dose bleeding. Total 96 patients were evaluated for both Pst I and Rsa I loci of the CYP2E1 gene and the results showed that both loci were tightly linked. Thirty-three patients(34.4%) were heterozygotes and 4 patients(4.2%) were homozygote. There was no significant difference in patient characteristics in the dose and bleeding case groups. CYP2E1 polymorphism showed a little difference among the groups but was not statistically significant, however, lower INR value was observed in homozygote genotype groups. It was also revealed that genotype allele frequencies of CYP2E1 in Korean was close to other Asian groups but was significantly different from other Caucasian and African-American populations.

Angiotensin-converting enzyme gene insertion/deletion polymorphism is not associated with BMI in Korean adults

  • Kwon, Insu
    • 운동영양학회지
    • /
    • 제24권1호
    • /
    • pp.24-28
    • /
    • 2020
  • [Purpose] Recent studies have demonstrated a probable association between ACE I/D polymorphism and obesity. Thus, this study aimed to investigate whether ACE I/D polymorphism influenced the susceptibly of developing obesity in Korean adults. [Methods] A total of 353 healthy Korean adults aged between 30 and 82 years were recruited, including 157 males and 196 females. Among the participants, 103 (29.2 %) were classified as normal (BMI < 23 kg/m2), 117 (33.1 %) as overweight (23 kg/m2 ≤ BMI < 25 kg/m2), and 133 (37.7 %) as obese (BMI ≥ 25 kg/m2). ACE polymorphism (rs1799752) analysis was performed using the MGB TaqMan® SNP Genotyping assay with 3 types of primers and 2 types of probes. The distributions of the ACE genotypes and allele frequencies were analyzed among the three groups using the Hardy-Weinberg equilibrium, chi-square tests, and multiple regression analysis. [Results] The distribution of the ACE genotypes were as follows: normal [II: n=38 (36.9 %), ID: n=46 (36.8 %), DD: n=19 (18.4 %)], overweight [II: n=43 (36.8 %), ID: n=55 (47.0 %), DD: n=19 (16.2 %)], and obese [II: n=41 (30.8 %), ID: n=76 (57.0 %), DD: n=16 (12.0 %)]. Unexpectedly, the I allele, rather than the D allele, was common in the obese group. [Conclusion] ACE I/D polymorphism is not associated with BMI in Korean adults. Thus, it is unlikely to be a powerful candidate gene for obesity in Korean adults.

곤충의 분산다형성-그의 다양성과 생태학적 의의 (Dispersal Polymorphisms in Insects-its Diversity and Ecological Significance)

  • 현재선
    • 한국응용곤충학회지
    • /
    • 제42권4호
    • /
    • pp.367-381
    • /
    • 2003
  • 곤충의 분산다형성이란 비상능력과 관련된 다형성으로 그 구체적 내용으로는 시다형성, 비상근다형성 그리고 비상행동변이성 등과 이들과는 별개로 개체군 밀도의존적인 상변이성이 있다. 분산다형성은 시간적으로나 공간적으로 이질적인 서식처 환경에 대응하기 위하여 이동형인 “유시형이나 장시형”과 정주형인 “무시형이나 단시형”을 생활사에 적절히 짜넣은 적응적 형질이다. 점변태곤충류에서는 유충과 성충의 생태학적지위가 중복되여 있어 유충과 성충이 생활공간과 그 밖의 요구조건을 달리하고 있는 완전변태류나 반변태류에 비하여 분산다형성의 예가 대단히 많다. 무시형 또는 단시형곤충은 같은 종의 유시형 또는 장시형곤충에 비하면 초산연령이 빠르고 총산란수도 많은 것이 보통이여서 자연증가율(r)이 크다. 단시형과 관련된 환경요인으로는 서식처의 시간적 영속성이나 공간적 이질성, 먹이조건, 개체군밀도, 온도, 일장 기타 여러 가지가 알려지고 있다 서식처의 환경조건에 대한 분산다형성발현상은 종에 따라 다를 뿐 아니라 암수간에도 차가 있고 같은 종에서도 계통간에 차가 있는 극히 탄력적인 현상이다. 분산다형성의 문제는 생리학, 유전학 그리고 생태학등에 걸친 폭넓은 학문분야로 특히 생태유전학이나 정량유전학분야치 연구는 분산다형성의 유전적본질 구명에 중요하다 하겠다.

$\beta$-II, III Adrenergic Receptor 유전자 다형성에 따른 20대 한국여성의 식이 섭취량, 비만도 및 체성분의 비교연구 (Comparative Analysis of Obesity by $\beta$-II, III, Adrenergic Receptor Gene Polymorphism in Korean Young Females)

  • 홍정미;김중학;박윤신;최선미;윤유식;안홍석
    • Journal of Nutrition and Health
    • /
    • 제35권8호
    • /
    • pp.870-879
    • /
    • 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.