• 제목/요약/키워드: genetic association studies

검색결과 617건 처리시간 0.024초

Lack of Association Between the Matrix Metalloproteinase-2 -1306C>T Polymorphism and Breast Cancer Susceptibility: a Meta-analysis

  • Yang, Lu;Li, Ning;Wang, Siyu;Kong, Yanan;Tang, Hailin;Xie, Xinhua;Xie, Xiaoming
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권12호
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    • pp.4823-4827
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    • 2014
  • Background: Since inconsistent results have been reported regarding the relation between the matrix metalloproteinase-2 (MMP-2) -1306C>T polymorphism and susceptibility for breast cancer, we performed a meta-analysis to investigate the issue. Materials and Methods: An internet search of PubMed and EMBASE was performed to identify eligible studies. Pooled odds ratios (ORs) with their corresponding confidence intervals (CIs) were calculated to evaluate any association between MMP-2 -1306C>T polymorphism and breast cancer susceptibility. Results: Nine case-control studies were included in the meta-analysis, involving 9,858 cases and 10,871 controls. Overall, there was no evidence of any association between the MMP-2 -1306C>T polymorphism and breast cancer susceptibility in different genetic models (T-allele vs C-allele: OR=0.95, 95%CI, 0.82-1.10, p=0.49; TT vs CC: OR=1.03, 95%CI, 0.90-1.19, p=0.66; TT+TC vs CC: OR=0.93, 95%CI, 0.78-1.10, p=0.38; TT vs TC+CC: OR=1.02, 95%CI, 0.89-1.17, p=0.77). In the subgroup analysis by ethnicity, CC was associated with a significant increase in breast susceptibility among Latin-Americans in the dominant model (OR=0.61, 95%CI, 0.40-0.93, p=0.02), but the association disappeared in other models. No significant association was observed among Europeans, East Asians and others in different genetic models. In the subgroup analysis by their source of controls, no significant association between MMP-2 -1306C>T polymorphism and breast cancer susceptibility was noted among population-based studies and hospital-based studies in different genetic models. Conclusions: The results of this meta-analysis suggest that MMP-2 -1306C>T polymorphism is not associated with breast cancer susceptibility, although the association among Latin-Americans in the dominant model was significant.

Genetic Association between ERCC5 rs17655 Polymorphism and Colorectal Cancer Risk: Evidence Based on a Meta-analysis

  • Zeng, Yong;Wei, Li;Wang, Ya-Jie;Liu, Chuan
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권13호
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    • pp.5565-5571
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    • 2015
  • Background: Previous studies evaluating the association between the excision repair cross complementing group 5 (ERCC5) gene rs17655 polymorphism and colorectal cancer susceptibility generated controversial results. To generate large-scale evidence on whether the ERCC5 rs17655 polymorphism might indeed be associated with colorectal cancer susceptibility, the present meta-analysis was performed. Materials and Methods: Data were collected from PubMed, Embase and Web of Science, with the last report up to Apr 03, 2015. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of any association. Results: A total of nine studies including 5,102 cases and 6,326 controls based on the search criteria were included and significant associations were found between ERCC5 rs17655 polymorphism CG vs GG overall (OR = 1.29, 95% CI =1.18~1.40) and in the dominant model (OR=1.23, 95% CI =1.13~1.33). On subgroup analysis by ethnicity and source of controls, the ERCC5 rs17655 polymorphism was found to correlate with the pathogenesis of colorectal cancer among Asians and Caucasians and with hospital-based populations. Conclusions: This meta-analysis suggests that the ERCC5 rs17655 polymorphism might contribute to genetic susceptibility to colorectal cancer.

Association of mitochondrial haplogroup F with physical performance in Korean population

  • Hwang, In Wook;Kim, Kicheol;Choi, Eun Ji;Jin, Han Jun
    • Genomics & Informatics
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    • 제17권1호
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    • pp.11.1-11.7
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    • 2019
  • Athletic performance is a complex multifactorial trait involving genetic and environmental factors. The heritability of an athlete status was reported to be about 70% in a twin study, and at least 155 genetic markers are known to be related with athlete status. Mitochondrial DNA (mtDNA) encodes essential proteins for oxidative phosphorylation, which is related to aerobic capacity. Thus, mtDNA is a candidate marker for determining physical performance. Recent studies have suggested that polymorphisms of mtDNA are associated with athlete status and/or physical performance in various populations. Therefore, we analyzed mtDNA haplogroups to assess their association with the physical performance of Korean population. The 20 mtDNA haplogroups were determined using the SNaPshot assay. Our result showed a significant association of the haplogroup F with athlete status (odds ratio, 3.04; 95% confidence interval, 1.094 to 8.464; p = 0.012). Athletes with haplogroup F ($60.64{\pm}3.04$) also demonstrated a higher Sargent jump than athletes with other haplogroups ($54.28{\pm}1.23$) (p = 0.041). Thus, our data imply that haplogroup F may play a crucial role in the physical performance of Korean athletes. Functional studies with larger sample sizes are necessary to further substantiate these findings.

Statistical Genetic Studies on Cattle Breeding for Dairy Productivity in Bangladesh: I. Genetic Improvement for Milk Performance of Local Cattle Populations

  • Hossain, K.B.;Takayanagi, S.;Miyake, T.;Moriya, K.;Bhuiyan, A.K.F.H.;Sasaki, Y.
    • Asian-Australasian Journal of Animal Sciences
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    • 제15권5호
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    • pp.627-632
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    • 2002
  • Genetic parameters for dairy performance traits were estimated, breeding values for the traits of all breeding sires and cows were predicted and the genetic trends were estimated using the breeding values in the Central Cattle Breeding Station (CCBS). A total of 3,801 records for Bangladeshi Local, 756 records for Red Sindhi and 959 records for Sahiwal covering the period from 1961 to 1997 were used in this analysis. Traits considered were total milk production per lactation (TLP), lactation length (LL) and daily milk yield (DMY). The genetic parameters were estimated by the REML using MTDFREML program. The breeding values were predicted by a best linear unbiased prediction (BLUP). In all sets of data, the genetic trends for the dairy performance traits were computed as averages of breeding values for cows born in the particular year. The estimates of heritability for TLP (0.26 and 0.27) and DMY (0.28 and 0.27) were moderate in Bangladeshi local and Red Sindhi breed, respectively. Furthermore, the heritability estimate for LL (0.24) was moderate in Red Sindhi. The estimates of heritabilities for all traits were low in Sahiwal. The repeatability estimate was high for TLP, moderate for LL and moderate to high for DMY. All variances estimated in Bangladeshi Local were low, comparing the respective values estimated in both Red Sindhi and Sahiwal. On the other hand, additive genetic variances for the three traits were estimated very low in Sahiwal. The genetic trends for the three dairy production traits have not been positive except for the recent trend in Bangladeshi Local.

Linzhi Native Pig - An Investigation Report on New Genetic Resource of Livestock

  • Chang, H.;Mimachiren, Mimachiren;Li, X.Y.;Ren, Z.J.;Dongwang, Dongwang;Dejiyangzhong, Dejiyangzhong;Chang, G.B.
    • Asian-Australasian Journal of Animal Sciences
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    • 제14권9호
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    • pp.1203-1208
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    • 2001
  • Linzhi Native Pig is a unique local breed recently discovered in the hinterland of Tibet. Its geological distribution, natural environment and ecological conditions have been explored. Using random sampling in typical colony of classification and standard animal-scientific and biogenetic techniques, we examined its contour features, size and weight, reproductive performances, carcass characters, meat quality, fresh-keeping features and the frequency distribution in the 19 structural gene loci encoding enzymes and proteins; according to folklores and Tibetan, Chinese and English history books, the materials and literature of Tibetan Studies, we have analyzed its origin and affirmed the fact that its products have been consumed as Tibetan medicine resources. Our findings make certain that Linzhi Native Pig holds great potential value in economy and culture.

Genetic Similarity between Cotton Leafroll Dwarf Virus and Chickpea Stunt Disease Associated Virus in India

  • Mukherjee, Arup Kumar;Mukherjee, Prasun Kumar;Kranthi, Sandhya
    • The Plant Pathology Journal
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    • 제32권6호
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    • pp.580-583
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    • 2016
  • The cotton leafroll dwarf virus (CLRDV) is one of the most devastating pathogens of cotton. This malady, known as cotton blue disease, is widespread in South America where it causes huge crop losses. Recently the disease has been reported from India. We noticed occurrence of cotton blue disease and chickpea stunt disease in adjoining cotton and chickpea fields and got interested in knowing if these two viral diseases have some association. By genetic studies, we have shown here that CLRDV is very close to chickpea stunt disease associated virus (CpSDaV). We were successful in transmitting the CLRDV from cotton to chickpea. Our studies indicate that CpSDaV and CLRDV in India are possibly two different strains of the same virus. These findings would be helpful in managing these serious diseases by altering the cropping patterns.

한국한의학연구원의 사상체질 연구동향 - 2007년부터 2010년까지의 논문을 중심으로 - (Researches Trend of Korea Institute of Oriental Medicine in Sasang Constitution Field - from 2007 to 2010)

  • 이영섭;김상혁;이시우
    • 한국한의학연구원논문집
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    • 제18권1호
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    • pp.59-74
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    • 2012
  • Objective : The aim of this study is to investigate current status of Sasang constitutional medicine researches and to provide source in setting a development strategy and making a policy on the Sasang constitutional medicine. Method : This study analyzed trends in research as represented in the 142 articles of Korea Institute of Oriental Medicine in the field of Sasang constitution medicine from 2007 to 2010. Result : The main themes of studies were Sasang constitution clinical study (68, 47%) and developing instruments for measuring diagnosis (48, 33%), especially pulse diagnosis (25, 17%). Genetic researches and trends studies on Sasang constitutional medicine were respectively 17 (12%) and 8 (5%). As a result, Korea Institute of Oriental Medicine established Sasang clinical information bank, and discovered clinical character of Sasang constitution to develope various diagnosis tools include constitution survey form and pulse diagnosis instrument. Genetic researches also discover constitution related genes such as FTO and MC4R, and explore association between heredity and Sasang constitution. Conclusion : The above mentioned achievements of Korea Institute of Oriental Medicine were limited to diagnosis process, unquestionably studies for reproducibility and authenticity of constitution diagnosis were important mission of Sasang constitutional medicine. However, to develop the advance of Sasang constitutional medicine, not only constitution diagnosis but also constitutional treatment studies should be conducted.

Genetic determinants of periosteum-mediated craniofacial bone regeneration: a systematic review

  • Eyituoyo Okoturo
    • 대한두개안면성형외과학회지
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    • 제24권6호
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    • pp.251-259
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    • 2023
  • Background: Periosteum-mediated bone regeneration (PMBR) is a recognized method for mandibular reconstruction. Despite its unpredictable nature and the limited degree to which it is understood, it does not share the concerns of developmental changes to donor and recipient tissues that other treatment options do. The definitive role of the periosteum in bone regeneration in any mammal remains largely unexplored. The purpose of this study was to identify the genetic determinants of PMBR in mammals through a systematic review. Methods: Our search methodology was designed in accordance with the PRISMA (Preferred Reporting Items for Systematic Review and Meta-Analysis) guidelines. We conducted a quality assessment of each publication, and evaluated the differences in gene expression between days 7 and 15. Results: A total of four studies satisfied the inclusion criteria. The subjects and tissues examined in these studies were Wistar rat calvaria in two studies, mini-pigs in one study, and calves and mice in one study. Three out of the four studies achieved the necessary quality score of ≥ 3. Gene expression analysis showed increased activity of genes responsible for angiogenesis, cytokine activities, and immune-inflammatory responses on day 7. Additionally, genes related to skeletal development and signaling pathways were upregulated on day 15. Conclusions: The results suggest that skeletal morphogenesis is regulated by genes associated with skeletal development, and the gene expression patterns of PMBR may be characterized by specific pathways.

The Methylenetetrahydrofolate Reductase C677T Polymorphism and Breast Cancer Risk in Asian Populations

  • Rai, Vandana
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권14호
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    • pp.5853-5860
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    • 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.

한국인과 일본인에서 1번 염색체에 부착되는 microsatellite marker의 특징 (Characterization of microsatellite markers covering chromosome 1 in the Korean and Japanese populations)

  • 이유진;박수병
    • 대한치과교정학회지
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    • 제34권6호
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    • pp.537-543
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    • 2004
  • Microsatellite market는 유전연관분석을 위한 매우 유용한 유전표지이다. 그러나 대부분의 market들은 서양인의 정보를 이응하고 있으므로 다른 종족에서 사용할 때는 종족간에 존재할 수 있는 유전 변이의 현저한 차이를 검증해야 한다. 한국인과 일본인 집단에서 종족간 유전 변이를 조사하기 위하여, 각각 96명의 비 혈연관계의 한국인과 일본인 개체들에서 DNA를 채취하였다 그리고 microsatellite set(ABI PRISM Linkage Mapping Set- HDS, Applied Biosystems, Foster City, CA, USA)을 이용하여 1번 인간 염색체 전 부위에 걸쳐 51개의 microsatellite marker들을 배열하고 부착된 marker들의 위치를 분석하여 대립유전자 빈도와 이형질성을 결정하였다 그 결과, 한국인과 서양인 집단 사이에는 현저한 차이를 보였으나 한국인과 일본인 집단 사이에서는 매우 유사하였다. 본 연구의 결과는 유전 연관 연구에 앞서 일반적으로 상용되는 microsatellite marker에 관한 광범위한 검증을 반드시 시행하여야 한다는 것을 나타낸다. 또한 한국인과 일본인 집단 사이에서 유사하게 나타난 대립유전자 빈도와 이 형질성은 두 민족간의 동질성이 높다는 것을 의미하므로 두 민족을 대상으로 한 1번 인간염색체와 관련된 유전 질환의 유전 연관 연구를 시행할 때 동일한 microsatellite marker의 이용 가능성을 제시하였다.