• 제목/요약/키워드: genetic association studies

검색결과 618건 처리시간 0.026초

수문학적 홍수저감효과 기반의 천변저류지 최적위치 선정을 위한 의사결정모형의 개발 (Development of Decision Making Model for Optimal Location of Washland based on Flood Control Effect estimated by Hydrologic Approach)

  • 안태진;강인웅;백천우
    • 한국수자원학회논문집
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    • 제41권7호
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    • pp.725-735
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    • 2008
  • 최근 국내에서는 기상이변으로 인한 홍수피해가 증가하고 있으나, 환경, 경제 및 정치적 문제로 인해 댐과 같은 대규모 수공구조물의 설치가 어려우며, 이에 대안으로 천변저류지의 설치를 검토하기 시작했다. 천변저류지는 비교적 규모가 작아 대상유역에 설치가능한 후보지가 다수 존재하며, 이들 후보지를 적절히 조합할 경우 효율적인 홍수 조절효과를 기대할 수 있다. 그러나 천변저류지 후보지가 다수 존재할 경우 최대의 효과를 제공하는 조합을 결정하기는 어려우며, 특히 기존의 연구에서 천변저류지의 홍수조절효과 산정을 위해 사용한 부정류해석과 같은 수리학적 접근방법을 적용할 경우 분석에 한계가 있을 수 있다. 본 연구에서는 수문학적 접근방법을 이용하여 천변저류지의 홍수조절효과를 산정하고, 최적화 기법인 유전자알고리즘을 이용하여 다양한 경우에 대한 홍수조절효과를 효율적으로 산정하기 위한 의사결정모형을 개발하였다. 개발된 모형을 안성천수계에 적용하여 모형의 적용성을 검토하였으며, 개발된 모형은 천변저류지 계획 수립을 위한 의사결정모형으로 활용할 수 있을 것으로 판단된다.

Influence of Genotype and Haplotype of MDR1 (C3435T, G2677A/T, C1236T) on the Incidence of Breast Cancer - a Case-Control Study in Jordan

  • Abuhaliema, Ali M;Yousef, Al-Motassem F;El-Madany, Nirmeen N;Bulatova, Nailya R;Awwad, Nemah M;Yousef, Muhammad A;Al Majdalawi, Khalil Z
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권1호
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    • pp.261-266
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    • 2016
  • Background: Breast cancer is the leading cause of cancer death among women and the second in humans worldwide. Many published studies have suggested an association between MDR1 polymorphisms and breast cancer risk. Our aim was to study the association between genetic polymorphism of MDR1 at three sites (C3435T, G2677A/T, and C1236T) and their haplotype and the risk of breast cancer in Jordanian females. Materials and Methods: A case-control study involving 150 breast cancer cases and 150 controls was conducted. Controls were age-matched to cases. The polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) technique and sequencing were performed to analyse genotypes. Results: The distribution of MDR1 C3435T genotypes differed between cases and controls [cases, CC 45.3%, CT 41.3%, and TT 13.3%; controls, CC 13.4%, CT 43.3%, and TT 30.2%, p < 0.001]. Similarly, the distribution of G2677A/T significantly differed [cases, GG 43.1 %, GT+GA 50.9% and AA+TT 6%; controls, GG 29.6 %, GT+GA 50.9%, and AA+TT 19.4%, p = 0.004]. On the other hand, genotype and allelotype distribution of C1236T was not statistically different between cases and controls (p=0.56 and 0.26, respectively). The CGC haplotype increased the risk to breast cancer by 2.5-fold compared to others, while TGC and TTC haplotypes carried 2.5- and 5-fold lower risk of breast cancer, respectively. Conclusions: Genetic polymorphisms of MDR1 C3435T and G2677A/T, but not C1236T, are associated with increased risk of breast cancer. In addition, CGC, TGC and TTC haplotypes have different impacts on the risk of breast cancer. Future, larger studies are needed to validate these findings.

Association of Clusterin Polymorphisms with Coronary Heart Disease in Koreans

  • ;;;유민
    • 대한의생명과학회지
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    • 제14권1호
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    • pp.55-58
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    • 2008
  • Clusterin is an 80 kDa heterodimetric glycosylated protein and it plays diverse biological roles in various tissues and organs. Clusterin is reported to be associated with the pathogenesis of coronary artery disease and atherosclerosis. Therefore, we investigated the genotype for the A/G polymorphism at the position 4,183 of clusterin gene in Koreans and compared genotype of patients with control group. 100 patients (Male 63, Female 37), who previously underwent coronary artery stent due to ischemic heart disease and 100 controls (Male 36, Female 64) participated in this study. There was a significant association between 4,183 A/G polymorphism in clusterin gene and coronary artery disease (CAD). The present study shows that clusterin gene A/G polymorphism may be associated with the pathogenesis of CAD. Further studies with larger population may be needed for the development of diagnostic methods at genetic level such as DNA chip.

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SNP Discovery from Transcriptome of Cashmere Goat Skin

  • Wang, Lele;Zhang, Yanjun;Zhao, Meng;Wang, Ruijun;Su, Rui;Li, Jinquan
    • Asian-Australasian Journal of Animal Sciences
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    • 제28권9호
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    • pp.1235-1243
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    • 2015
  • The goat Capra hircus is one of several economically important livestock in China. Advances in molecular genetics have led to the identification of several single nucleotide variation markers associated with genes affecting economic traits. Validation of single nucleotide variations in a whole-transcriptome sequencing is critical for understanding the information of molecular genetics. In this paper, we aim to develop a large amount of convinced single nucleotide polymorphisms (SNPs) for Cashmere goat through transcriptome sequencing. In this study, the transcriptomes of Cashmere goat skin at four stages were measured using RNA-sequencing and 90% to 92% unique-mapped-reads were obtained from total-mapped-reads. A total of 56,231 putative SNPs distributed among 10,057 genes were identified. The average minor allele frequency of total SNPs was 18%. GO and KEGG pathway analysis were conducted to analyze the genes containing SNPs. Our follow up biological validation revealed that 64% of SNPs were true SNPs. Our results show that RNA-sequencing is a fast and efficient method for identification of a large number of SNPs. This work provides significant genetic resources for further research on Cashmere goats, especially for the high density linkage map construction and genome-wide association studies.

Chronic non-bacterial osteomyelitis in the jaw

  • Kim, Soung Min;Lee, Suk Keun
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • 제45권2호
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    • pp.68-75
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    • 2019
  • Chronic recurrent multifocal osteomyelitis (CRMO) is one of the most severe form of chronic non-bacterial osteomyelitis (CNO), which could result in bone and related tissue damage. This autoinflammatory bone disorder (ABD) is very difficult for its clinical diagnosis because of no diagnostic criteria or biomarkers. CRMO in the jaw must be suspected in the differential diagnosis of chronic and recurrent bone pain in the jaw, and a bone biopsy should be considered in chronic and relapsing bone pain with swelling that is unresponsive to treatment. The early diagnosis of CRMO in the jaw will prevent unnecessary and prolonged antibiotic usage or unnecessary surgical intervention. The updated researches for the identification of genetic and molecular alterations in CNO/CRMO should be studied more for its correct pathophysiological causes and proper treatment guidelines. Although our trial consisted of reporting items from Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), there are very few articles of randomized controlled trials. This article was summarized based on the author's diverse clinical experiences. This paper reviews the clinical presentation of CNO/CRMO with its own pathogenesis, epidemiology, recent research studies, and general medications. Treatment and monitoring of the jaw are essential for the clear diagnosis and management of CNO/CRMO patients in the field of dentistry and maxillofacial surgery.

Comparative Analysis of Optimization Algorithms and the Effects of Coupling Hedging Rules in Reservoir Operations

  • Kim, Gi Joo;Kim, Young-Oh
    • 한국수자원학회:학술대회논문집
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    • 한국수자원학회 2021년도 학술발표회
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    • pp.206-206
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    • 2021
  • The necessity for appropriate management of water resources infrastructures such as reservoirs, levees, and dikes is increasing due to unexpected hydro-climate irregularities and rising water demands. To meet this need, past studies have focused on advancing theoretical optimization algorithms such as nonlinear programming, dynamic programming (DP), and genetic programming. Yet, the optimally derived theoretical solutions are limited to be directly implemented in making release decisions in the real-world systems for a variety of reasons. This study first aims to comparatively analyze the two prominent optimization methods, DP and evolutionary multi-objective direct policy search (EMODPS), under historical inflow series using K-fold cross validation. A total of six optimization models are formed each with a specific formulation. Then, one of the optimization models was coupled with the actual zone-based hedging rule that has been adopted in practice. The proposed methodology was applied to Boryeong Dam located in South Korea with conflicting objectives between supply and demand. As a result, the EMODPS models demonstrated a better performance than the DP models in terms of proximity to the ideal. Moreover, the incorporation of the real-world policy with the optimal solutions improved in all indices in terms of the supply side, while widening the range of the trade-off between frequency and magnitude measured in the sides of demand. The results from this study once again highlight the necessity of closing the gap between the theoretical solutions with the real-world implementable policies.

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Identification of Bovine Lymphocyte Antigen DRB3.2 Alleles in Iranian Golpayegani Cattle by DNA Test

  • Mosafer, J.;Nassiry, M.R.
    • Asian-Australasian Journal of Animal Sciences
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    • 제18권12호
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    • pp.1691-1695
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    • 2005
  • The bovine lymphocyte antigen (BoLA)-DRB3 gene encodes cell surface glycoproteins that initiate immune responses by presenting processed antigenic peptides to CD4 T helper cells. DRB3 is the most polymorphic bovine MHC class II gene which encodes the peptide-binding groove. Since different alleles favour the binding of different peptides, DRB3 has been extensively evaluated as a candidate marker for associations with various bovine diseases and immunological traits. For that reason, the genetic diversity of the bovine class II DRB3 locus was investigated by polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP). This study describes genetic variability in the BoLA-DRB3 in Iranian Golpayegani Cattle. Iranian Golpayegani Cows (n = 50) were genotyped for bovine lymphocyte antigen (BoLA)-DRB3.2 allele by polymerase chain reaction and restriction fragment length polymorphism method. Bovine DNA was isolated from aliquots of whole blood. A two-step polymerase chain reaction followed by digestion with restriction endonucleases RsaI, HaeIII and BstYI was conducted on the DNA from Iranian Golpayegani Cattle. In the Iranian Golpayegani herd studied, we identified 19 alleles.DRB3.2${\times}$16 had the highest allelic frequency (14%), followed by DRB3.2${\times}$7 (11%). Six alleles (DRB3.2${\times}$25, ${\times}$24, ${\times}$22, ${\times}$20, ${\times}$15, ${\times}$3) had frequencies = 2%. Although additional studies are required to confirm the present findings, our results indicate that exon 2 of the BoLA-DRB3 gene is highly polymorphic in Iranian Golpayegani Cattle.

Investigation of Association between oipA and iceA1/iceA2 Genotypes of Helicobacter pylori and Gastric Cancer in Iran

  • Aghdam, Saeed Mahboubi;Sardari, Zeinab;Safaralizadeh, Reza;Bonyadi, Mortaza;Abdolmohammadi, Reza;Moghadam, Mostafa Soltani;Khalilnezhad, Ahad
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권19호
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    • pp.8295-8299
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    • 2014
  • Background: H pylori is the main causative agent of Gastric cancer and chronic gastritis. Genetic diversity of H. pylori has major contribution in its pathogenesis. We investigated the prevalence of oipA and iceA1/iceA2 positive strains of H. pylori among patients with gastric cancer and gastritis. Materials and Methods: Sampling performed by means of endoscopy from 86 patients. DNA was extracted from tissue samples using DNA extraction kit. PCR assay was performed and products were monitored by Agarose Gel Electrophoresis. Results: Urease Test and 16S rRNA PCR did not show significant differences in detection of H. pylori. The frequency of iceA1 allele in patients with gastric cancer was significantly higher than those with gastritis (p<0.05). However, there was no significant difference in prevalence of oipA and iceA2 genes among the two groups of patients (p>0.05). Conclusions: The iceA1 gene, but the oipA and iceA2 genes, is associated with H. pylori-induced gastric cancer. However, confirmatory studies must be performed in future.

Exome sequencing in a breast cancer family without BRCA mutation

  • Noh, Jae Myoung;Kim, Jihun;Cho, Dae Yeon;Choi, Doo Ho;Park, Won;Huh, Seung Jae
    • Radiation Oncology Journal
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    • 제33권2호
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    • pp.149-154
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    • 2015
  • Purpose: We performed exome sequencing in a breast cancer family without BRCA mutations. Materials and Methods: A family that three sisters have a history of breast cancer was selected for analysis. There were no family members with breast cancer in the previous generation. Genetic testing for BRCA mutation was negative, even by the multiplex ligation-dependent probe amplification method. Two sisters with breast cancer were selected as affected members, while the mother of the sisters was a non-affected member. Whole exome sequencing was performed on the HiSeq 2000 platform with paired-end reads of 101 bp in the three members. Results: We identified 19,436, 19,468, and 19,345 single-nucleotide polymorphisms (SNPs) in the coding regions. Among them, 8,759, 8,789, and 8,772 were non-synonymous SNPs, respectively. After filtering out 12,843 synonymous variations and 12,105 known variations with indels found in the dbSNP135 or 1000 Genomes Project database, we selected 73 variations in the samples from the affected sisters that did not occur in the sample from the unaffected mother. Using the Sorting Intolerant From Tolerant (SIFT), PolyPhen-2, and MutationTaster algorithms to predict amino acid substitutions, the XCR1, DLL1, TH, ACCS, SPPL3, CCNF, and SRL genes were risky among all three algorithms, while definite candidate genes could not be conclusively determined. Conclusion: Using exome sequencing, we found 7 variants for a breast cancer family without BRCA mutations. Genetic evidence of disease association should be confirmed by future studies.

Association of RAD 51 135 G/C, 172 G/T and XRCC3 Thr241Met Gene Polymorphisms with Increased Risk of Head and Neck Cancer

  • Kayani, Mahmood Akhtar;Khan, Sumeera;Baig, Ruqia Mehmood;Mahjabeen, Ishrat
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권23호
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    • pp.10457-10462
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    • 2015
  • Homologous recombination repair (HRR) plays an important role in protection against carcinogenic factors. Genes regulating the HRR mechanisms may impair their functions and consequently result in increased cancer susceptibility. RAD 51 and XRCC3 are key regulators of the HRR pathway and genetic variability in these may contribute to the appearance and progression of various cancers including head and neck cancer (HNC). The aim of the present study was to compare the distribution of genotypes of RAD51 (135G/C, 172 G/T) and XRCC3 (Thr241Met) polymorphisms between HNC patients and controls. Each polymorphism was genotyped using the polymerase chain reaction-restriction fragment length polymerase (PCR-RFLP) technique in 200 pathologically confirmed HNC patients along with 150 blood samples from normal, disease free healthy individuals. We observed that homozygous variant CC genotype of RAD51 135G/C was associated with a 2.5 fold increased HNC risk (OR=2.5; 95%CI=0.69-9.53; p<0.02), while second polymorphism of RAD 51 172 G/T, heterozygous variant GT genotype was associated with a 1.68 fold (OR=1.68; 95%CI=1.08-2.61; p<0.02) elevation when compared with controls. In the case of the Thr241Met polymorphism of XRCC3, we observed a 16 fold (OR=16; 95% CI=3.78-69.67; p<0.0002) increased HNC risk in patients compared to controls. These results further suggested that RAD51 (135G/C, 172 G/T) and XRCC3 (Thr241Met) polymorphisms may be effective biomarkers for genetic susceptibility to HNC. Larger studies are needed to confirm our findings and identify the underlying mechanisms.