• Title/Summary/Keyword: Disequilibrium

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A genome-wide association study (GWAS) for pH value in the meat of Berkshire pigs

  • Park, Jun;Lee, Sang-Min;Park, Ja-Yeon;Na, Chong-Sam
    • Journal of Animal Science and Technology
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    • v.63 no.1
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    • pp.25-35
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    • 2021
  • The purpose of this study is to estimate the single nucleotide polymorphism (SNP) effect for pH values affecting Berkshire meat quality. A total of 39,603 SNPs from 1,978 heads after quality control and 882 pH values were used estimate SNP effect by single step genomic best linear unbiased prediction (ssGBLUP) method. The average physical distance between adjacent SNP pairs was 61.7kbp and the number and proportion of SNPs whose minor allele frequency was below 10% were 9,573 and 24.2%, respectively. The average of observed heterozygosity and polymorphic information content was 0.32 ± 0.16 and 0.26 ± 0.11, respectively and the estimate for average linkage disequilibrium was 0.40. The heritability of pH45m and pH24h were 0.10 and 0.15 respectively. SNPs with an absolute value more than 4 standard deviations from the mean were selected as threshold markers, among the selected SNPs, protein-coding genes of pH45m and pH24h were detected in 6 and 4 SNPs, respectively. The distribution of coding genes were detected at pH45m and were detected at pH24h.

The Impact of Fiscal Policy Instruments on Economic Wellness: Evidence From Malaysian Per Capita Income

  • OTHMAN, Nor Salwati;TAI, Teh Lian
    • The Journal of Asian Finance, Economics and Business
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    • v.9 no.6
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    • pp.245-252
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    • 2022
  • This study examines the strength of the impact of fiscal policy tools on economic wellbeing as measured by per capita income in Malaysia from 1996 to 2020. The impact of fiscal policy instruments on economic wellness, represented by real income per capita, is measured using the autoregressive distributed lags model. The speed of adjustment from short-run disequilibrium to long-run equilibrium is also measured to assess the strength of the fiscal instruments' impact on per capita income. Empirical results exhibit the existence of co-integration relationships between per capita income, tax revenue, and government spending. The findings provide strong support for the presence of a long-run positive impact on government spending and a long-run negative impact of tax revenue on per capita income. The coefficient of ECTt-1 indicates that deviations from a short-run disequilibrium to a long-run equilibrium from the current to the future period are corrected with a speed of 76% (equivalent to a duration of 1.5-2 years to return to equilibrium). The practical and policy implication of the results is fiscal instruments play a significant role, mainly in alleviating the economic impact of the COVID-19 pandemic in the long run.

Bayesian bi-level variable selection for genome-wide survival study

  • Eunjee Lee;Joseph G. Ibrahim;Hongtu Zhu
    • Genomics & Informatics
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    • v.21 no.3
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    • pp.28.1-28.13
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    • 2023
  • Mild cognitive impairment (MCI) is a clinical syndrome characterized by the onset and evolution of cognitive impairments, often considered a transitional stage to Alzheimer's disease (AD). The genetic traits of MCI patients who experience a rapid progression to AD can enhance early diagnosis capabilities and facilitate drug discovery for AD. While a genome-wide association study (GWAS) is a standard tool for identifying single nucleotide polymorphisms (SNPs) related to a disease, it fails to detect SNPs with small effect sizes due to stringent control for multiple testing. Additionally, the method does not consider the group structures of SNPs, such as genes or linkage disequilibrium blocks, which can provide valuable insights into the genetic architecture. To address the limitations, we propose a Bayesian bi-level variable selection method that detects SNPs associated with time of conversion from MCI to AD. Our approach integrates group inclusion indicators into an accelerated failure time model to identify important SNP groups. Additionally, we employ data augmentation techniques to impute censored time values using a predictive posterior. We adapt Dirichlet-Laplace shrinkage priors to incorporate the group structure for SNP-level variable selection. In the simulation study, our method outperformed other competing methods regarding variable selection. The analysis of Alzheimer's Disease Neuroimaging Initiative (ADNI) data revealed several genes directly or indirectly related to AD, whereas a classical GWAS did not identify any significant SNPs.

Distribution and Haplotype Associations of XPD Lys751Gln, XRCC1 Arg280His and XRCC1 Arg399Gln Polymorphisms with Nasopharyngeal Carcinoma in the Malaysian Population

  • Visuvanathan, Shaneeta;Chong, Pei-Pei;Yap, Yoke-Yeow;Lim, Chin-Chye;Tan, Meng-Kuan;Lye, Munn-Sann
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.6
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    • pp.2747-2751
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    • 2014
  • Background: DNA repair pathways play a crucial role in maintaining the human genome. Previous studies associated DNA repair gene polymorphisms (XPD Lys751Gln, XRCC1 Arg280His and XRCC1 Arg399Gln) with nasopharyngeal carcinoma. These non-synonymous polymorphisms may alter DNA repair capacity and thus increase or decrease susceptibility. The present study aimed to determine the genotype distribution of XPD codon 751, XRCC1 codon 280 and codon 399 polymorphisms and haplotype associations among NPC cases and controls in the Malaysian population. Materials and Methods: We selected 157 NPC cases and 136 controls from two hospitals in Kuala Lumpur, Malaysia for this study. The polymorphisms studied were genotyped by PCR-RFLP assay and allele and genotype frequenci es, haplotype and linkage disequilibrium were determined using SNPstat software. Results: For the XPD Lys751Gln polymorphism, the frequency of the Lys allele was higher in cases than in controls (94.5% versus 85.0%). For the XRCC1 Arg280His polymorphism, the frequency of Arg allele was 90.0% and 89.0% in cases and controls, respectively and for XRCC1 Arg399Gln the frequency of the Arg allele was 72.0% and 72.8% in cases and controls respectively. All three polymorphisms were in linkage disequilibrium. The odds ratio from haplotype analysis for these three polymorphisms and their association with NPC was 1.93 (95%CI: 0.90-4.16) for haplotype CGC vs AGC allele combinations. The global haplotypte association with NPC gave a p-value of 0.054. Conclusions: Our study provides an estimate of allele and genotype frequencies of XRCC1Arg280His, XRCC1 Arg399Gln and XPD Lys751Gln polymorphisms in the Malaysian population and showed no association with nasopharyngeal cancer.

$^{230}$ Th/$^{234}$ U disequilibrium dating of fracture-filling carbonate veins from the Ipsil and Janghangri fault zones, Gyeongju, Korea by multiple collector inductively coupled plasma mass spectrometry (다검출기 유도결합 플라즈마 질량분석기를 이용한 경주 입실, 장항리 단층 파쇄대 충진 탄산염암 맥의 $^{230}Th/^{234}U$ 비평형 연대측정)

  • 정창식;최만식;김현철;임상복
    • The Journal of the Petrological Society of Korea
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    • v.10 no.3
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    • pp.148-156
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    • 2001
  • We report $^{230}Th/^{234}U$ disequilibrium ages of fracture-filling carbonate veins from the Ipsil and Janghangri fault zones, Gyeongju, Korea by multiple collector inductively coupled plasma mass spectrometry. The U and Th fraction was extracted from totally dissolved samples by rapid and convenient coprecipitation and ion exchange chemistry. The recovery was around 80% for Th and 70% for U. The $^{234}U/^{238}U,\;^{230}Th/^{232}Th$ ratios were analysed for this preconcentrated fraction and the U/Th ratio was directly analysed for untreated sample solution. The $^{234}U-^{230}Th$ system is in secular equilibrium for the Ipsil carbonate samples, supporting previously reported ESR ages. The detrital-corrected $^{230}Th/^{234}U$ age of the Janghangri carbonate samples is $48\pm$41 ka, which constrains the minimum age of the fracture zone.

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Linkage Disequilibrium Estimation of Chinese Beef Simmental Cattle Using High-density SNP Panels

  • Zhu, M.;Zhu, B.;Wang, Y.H.;Wu, Y.;Xu, L.;Guo, L.P.;Yuan, Z.R.;Zhang, L.P.;Gao, X.;Gao, H.J.;Xu, S.Z.;Li, J.Y.
    • Asian-Australasian Journal of Animal Sciences
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    • v.26 no.6
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    • pp.772-779
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    • 2013
  • Linkage disequilibrium (LD) plays an important role in genomic selection and mapping quantitative trait loci (QTL). In this study, the pattern of LD and effective population size ($N_e$) were investigated in Chinese beef Simmental cattle. A total of 640 bulls were genotyped with IlluminaBovinSNP50BeadChip and IlluminaBovinHDBeadChip. We estimated LD for each autosomal chromosome at the distance between two random SNPs of <0 to 25 kb, 25 to 50 kb, 50 to 100 kb, 100 to 500 kb, 0.5 to 1 Mb, 1 to 5 Mb and 5 to 10 Mb. The mean values of $r^2$ were 0.30, 0.16 and 0.08, when the separation between SNPs ranged from 0 to 25 kb to 50 to 100 kb and then to 0.5 to 1 Mb, respectively. The LD estimates decreased as the distance increased in SNP pairs, and increased with the increase of minor allelic frequency (MAF) and with the decrease of sample sizes. Estimates of effective population size for Chinese beef Simmental cattle decreased in the past generations and $N_e$ was 73 at five generations ago.

Effects of Fibrinogen Level and Genetic Variation in FGA Gene on Korean Stroke Patients (피브리노겐의 수치 및 중요한 아미노산 변형 돌연변이가 뇌중풍에 미치는 영향)

  • Yang, Yong-Jun;Shin, Yong-Cheol;Ko, Seong-Gyu
    • Journal of Society of Preventive Korean Medicine
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    • v.14 no.1
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    • pp.111-123
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    • 2010
  • Backgrounds : Stroke is characterized by loss of brain functions due to a disturbance in the blood vessels supplying blood to the brain, and classified into hemorrhage and ischemia. Stroke is known to be affected by genetic factors and other diseases such as hypertension and cardiovascular diseases. However, the distinctive association between stroke and genetic variations has not discovered yet. Objectives : This study investigated the effects of fibrinogen level and genetic variations in FGA (Fibrinogen alpha chain) gene on stroke in Korean stroke patients and controls. Methods : DNA samples from 674 stroke patients diagnosed by Oriental medical hospitals and 267 controls were used in this study. Two common single nucleotide polymorphism(SNP) with high minor allele frequency(MAF), rs2070011G/A of promoter region and nonsynonymous rs6050A/G of exon 5 in FGA gene, were targeted for Taqman genotyping. Because the TOAST classification is important to the factors and symptoms of stroke, ischemic patients were further classified into five subtypes using diagnosis and clinical data. One-way ANOVA and chi-square test were used for clinical data and genetic association, respectively. Haploview v4.1 program was used for linkage disequilibrium(LD), haplotype and haplotype block analysis. Results : The levels of red blood cells and fibrinogen from clinical data were shown to be significant factors for the sub-groups of TOAST classification. No significant associations of stroke, hemorrhage, ischemic and subtypes of TOAST with rs2070011 and rs6050 of FGA gene were found(P > 0.05). However, rs2070011 in promoter region and nonsynonymous rs6050 in exon 5 which produce the amino acid change from threonine to alanine showed a haplotype block and three haplotypes of A-G, G-A, A-A, suggesting that rs2070011 and rs6050 might be co-segregated in generic recombination. Although A-A haplotype of stroke patients showed 64-69% low frequency compared to controls, there was no significant association between stroke and haplotype(P > 0.05). Conclusion : This study showed that there was no significant association between stroke and two SNP of rs2070011G/A and nonsynonymous rs6050A/G in FGA gene. However, these two SNP compose a haplotype block and three haplotypes of A-G, G-A, A-A. This finding suggests that rs2070011 and rs6050 are so close as to be positioned as linkage disequilibrium. Nevertheless, no significant association between haplotypes and stroke was found.

Comparative assessment of the effective population size and linkage disequilibrium of Karan Fries cattle revealed viable population dynamics

  • Shivam Bhardwaj;Oshin Togla;Shabahat Mumtaz;Nistha Yadav;Jigyasha Tiwari;Lal Muansangi;Satish Kumar Illa;Yaser Mushtaq Wani;Sabyasachi Mukherjee;Anupama Mukherjee
    • Animal Bioscience
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    • v.37 no.5
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    • pp.795-806
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    • 2024
  • Objective: Karan Fries (KF), a high-producing composite cattle was developed through crossing indicine Tharparkar cows with taurine bulls (Holstein Friesian, Brown Swiss, and Jersey), to increase the milk yield across India. This composite cattle population must maintain sufficient genetic diversity for long-term development and breed improvement in the coming years. The level of linkage disequilibrium (LD) measures the influence of population genetic forces on the genomic structure and provides insights into the evolutionary history of populations, while the decay of LD is important in understanding the limits of genome-wide association studies for a population. Effective population size (Ne) which is genomically based on LD accumulated over the course of previous generations, is a valuable tool for e valuation of the genetic diversity and level of inbreeding. The present study was undertaken to understand KF population dynamics through the estimation of Ne and LD for the long-term sustainability of these breeds. Methods: The present study included 96 KF samples genotyped using Illumina HDBovine array to estimate the effective population and examine the LD pattern. The genotype data were also obtained for other crossbreds (Santa Gertrudis, Brangus, and Beefmaster) and Holstein Friesian cattle for comparison purposes. Results: The average LD between single nucleotide polymorphisms (SNPs) was r2 = 0.13 in the present study. LD decay (r2 = 0.2) was observed at 40 kb inter-marker distance, indicating a panel with 62,765 SNPs was sufficient for genomic breeding value estimation in KF cattle. The pedigree-based Ne of KF was determined to be 78, while the Ne estimates obtained using LD-based methods were 52 (SNeP) and 219 (genetic optimization for Ne estimation), respectively. Conclusion: KF cattle have an Ne exceeding the FAO's minimum recommended level of 50, which was desirable. The study also revealed significant population dynamics of KF cattle and increased our understanding of devising suitable breeding strategies for long-term sustainable development.

ON FUZZIFIED REPRESENTATION OF PIAGETIAN REVERSIBLE THINKING

  • Kang, Mee-Kwang;Lee, Byung-Soo
    • Research in Mathematical Education
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    • v.3 no.2
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    • pp.99-112
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    • 1999
  • In this paper, we represent the Piagetian reversible thinking by using the concept of fuzzy complements. In this case the turning point to the reversible thinking can be corre-sponded to the equilibrium points of a fuzzy set, which are shown through some examples. On the other hand, Piaget considered disequilibrium in the theory of equi-libration as a stimulus for students' cognitive structure, furthermore as the driving forces behind intellectual growth. But we suggest a di erent application o Piagetian equi-librium in another point of view as a tool understanding students' psychological stability in problem solving activity.

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Identification of Novel SNPs in Bovine Insulin-like Growth Factor Binding Protein-3 (IGFBP3) Gene

  • Kim, J.Y.;Yoon, D.H.;Park, B.L.;Kim, L.H.;Na, K.J.;Choi, J.G.;Cho, C.Y.;Lee, H.K.;Chung, E.R.;Sang, B.C.;Cheong, I.J.;Oh, S.J.;Shin, Hyoung Doo
    • Asian-Australasian Journal of Animal Sciences
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    • v.18 no.1
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    • pp.3-7
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    • 2005
  • The insulin-like growth factors (IGFs), their receptors, and their binding proteins play key roles in regulating cell proliferation and apoptosis. Insulin-like growth factor binding protein-3 (IGFBP3, OMIM #146732) is one of the proteins that bind to the IGFs. IGFBP3 is a modulator of IGF bioactivity, and direct growth inhibitor in the extravascular tissue compartment. We identified twenty-two novel single nucleotide polymorphisms (SNPs) in IGFBP3 gene in Korean cattle (Hanwoo, Bos taurus coreanae) by direct sequencing of full gene including -1,500 bp promoter region. Among the identified SNPs, five common SNPs were screened in 650 Korean cattle; one SNP in promoter (IGFBP3 G-854C), one in 5'UTR region (IGFBP3 G-100A), two in intron 1 (IGFBP3 G+421T, IGFBP3 T+1636A), and one in intron 2 (IGFBP3 C+3863A). The frequencies of each SNP were 0.357 (IGFBP3 G-854C), 0.472 (IGFBP3 G-100A), 0.418 (IGFBP3 G+421T), 0.363 (IGFBP3 T+1636A) and 0.226 (IGFBP3 C+3863A), respectively. Haplotypes and their frequencies were estimated by EM algorithm. Six haplotypes were constructed with five SNPs and linkage disequilibrium coefficients (|D'|) between SNP pairs were also calculated. The information on SNPs and haplotypes in IGFBP3 gene could be useful for genetic studies of this gene.