Search results for: genome-wide association study

Authors: Lu Yung-Hsiang, Chang Kuming, Dai Yi-Fang, Liao Ching-Yi

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According to Taiwan’s administrative division of future land planning may lead farmer association and service areas facing recombination or merger. Thus, merger combination and the economic benefit of the farmer association are worth to be discussed. The farmer association in the merger, which may cause some then will not be consolidated, or consolidate two, or ever more to one association. However, under what condition to merge is greatest, as one of observation of this study. In addition, research without using simulation methods and only on the credit department rather whole farmer association. Therefore, this paper will use the simulation approach, and examine both the merge of farmer association and the condition under which the benefits are the greatest. The data of this study set include 266 farmer associations in Taiwan period 2012 to 2013. Empirical results showed that the number of the farmer association optimal simulation combination is 108.After the merger from the first stage can be reduced by 60% of the farmers’ association. The cost saving effects of the post-merger is not different. The cost efficiency of the farmers’ association improved it. The economies of scale and scope would decrease by the merger. The research paper hopes the finding will benefit the future merger of the farmers’ association.

Keywords: simulation merger, farmer association, assurance region, data envelopment analysis

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Authors: Shiva Ebrahimian Dehaghani, Afsaneh Doosti, Morteza Zare

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Background: There is no consensus regarding the association between dysphagia and cognition. Purpose: The aim of this study was to quantitatively and qualitatively analyze the available evidence on the direction and strength of association between dysphagia and cognition. Methodology: PubMed, Scopus, Embase and Web of Science were searched about the association between dysphagia and cognition. A random-effects model was used to determine weighted odds ratios (OR) and 95% confidence intervals (CI). Sensitivity analysis was performed to determine the impact of each individual study on the pooled results. Results: A total of 1427 participants showed that some cognitive disorders were significantly associated with dysphagia (OR = 3.23; 95% CI, 2.33–4.48). Conclusion: The association between cognition and swallowing disorders suggests that multiple neuroanatomical systems are involved in these two functions.

Keywords: adult, association, cognitive impairment, dysphagia, systematic review

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Authors: Feng Zhang

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Kashin-Beck disease (KBD) is a chronic osteochondropathy. The mechanism of hand growth and development failure of KBD remains elusive now. In this study, we conducted a two-stage genome-wide association study (GWAS) of palmar length-width ratio (LWR) of KBD, totally involving 493 Chinese Han KBD patients. Affymetrix Genome Wide Human SNP Array 6.0 was applied for SNP genotyping. Association analysis was conducted by PLINK software. Imputation analysis was performed by IMPUTE against the reference panel of the 1000 genome project. In the GWAS, the most significant association was observed between palmar LWR and rs2071358 of COL2A1 gene (P value = 4.68×10-8). Imputation analysis identified 3 SNPs surrounding rs2071358 with significant or suggestive association signals. Replication study observed additional significant association signals at both rs2071358 (P value = 0.017) and rs4760608 (P value = 0.002) of COL2A1 gene after Bonferroni correction. Our results suggest that COL2A1 gene was a novel susceptibility gene involved in the growth and development failure of hand of KBD.

Keywords: Kashin-Beck disease, genome-wide association study, COL2A1, hand

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Authors: Diriba Dereje

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Background: Cardiac and renal disease are the most prevalent chronic non-communicable diseases (CNCD) affecting the community in a significant manner. The best and recommended method in halting CNCD is by working on prevention as early as possible. This is only possible if early surrogate markers are identified. As part of the stated solution, this study will identify an association between microalbuminuria (an early surrogate marker of renal and cardiac disease) and lung function test among adult in the community. Objective: The main aim of this study was to assess an association between microalbuminuria (an early surrogate marker of renal and cardiac disease) and lung function test among adult in the community. Methodology: Community based cross sectional study was conducted among 384 adult in Jimma town. A systematic sampling technique was used in selecting participants to the study. In searching for the possible association, binary and multivariate logistic regression and t-test was conducted. Finally, the association between microalbuminuria and lung function test was well stated in the form of figures and written description. Result and Conclusion: A significant association was found between microalbuminuria and different lung function test parameters.

Keywords: microalbuminuria, lung function, association, test

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Authors: Heejin Yun, Juanjuan Zang

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This study aims to analyze the text terms posted on an online community of people from the same hometown and to understand the topic and trend of nostalgia composed online. For this purpose, this study collected 144 writings which the natives of Yeongjong Island, Incheon, South-Korea have posted on an online community. And it analyzed association relations. As a result, online community texts means that just defining nostalgia as ‘a mind longing for hometown’ is not an enough explanation. Second, texts composed online have abstractness rather than persons’ individual stories. This study figured out the relationship that had the most critical and closest mutual association among the terms that constituted nostalgia through literature research and association rule concerning nostalgia. The result of this study has a characteristic that it summed up the core terms and emotions related to nostalgia.

Keywords: nostalgia, cultural memory, data mining, association rule

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Authors: Abir Derouiche, Abdesslem Layeb

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Association Rule Mining (ARM) is one of the most popular data mining tasks and it is widely used in various areas. The search for association rules is an NP-complete problem that is why metaheuristics have been widely used to solve it. The present paper presents the ARM as an optimization problem and surveys the proposed approaches in the literature based on metaheuristics.

Keywords: Optimization, Metaheuristics, Data Mining, Association rules Mining

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Authors: Nooralhuda Aljlas

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In the ever-growing field of non-governmental organizations, the enhancement of performance management and measurement systems has been increasingly acknowledged by political, economic, social, legal, technological and environmental factors. Within Bahrain Athletics Association, such enhancement results from the key factors leading performance management including collaboration, feedback, human resource management, leadership and participative management. The exploratory, qualitative research conducted reviewed performance management theory. As reviewed, the key factors leading performance management were identified. Drawing on a non-governmental organization case study, the key factors leading Bahrain Athletics Association’s performance management were explored. By exploring the key factors leading Bahrain Athletics Association’s performance management, the research study proposed a theoretical framework of the key factors leading performance management in non-governmental organizations in general. The research study recommended further investigation of the role of the two key factors of command and control and leadership, combining military and civilian approaches to enhancing non-governmental organizations’ performance management.

Keywords: Bahrain athletics association, exploratory, key factor, performance management

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Authors: Saima Suleman, Kalsoom Sughra, Naeem Mahmood Ashraf

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Mycobacterium tuberculosis is a communicable chronic illness. This disease is being highly focused by researchers as it is present approximately in one third of world population either in active or latent form. The genetic makeup of a person plays an important part in producing immunity against disease. And one important factor association is single nucleotide polymorphism of relevant gene. In this study, we have studied association between single nucleotide polymorphism of CD-209 gene (encode DC-SIGN receptor) and patients of tuberculosis. Dry lab (in silico) and wet lab (RFLP) analysis have been carried out. GWAS catalogue and GEO database have been searched to find out previous association data. No association study has been found related to CD-209 nsSNPs but role of CD-209 in pulmonary tuberculosis have been addressed in GEO database.Therefore, CD-209 has been selected for this study. Different databases like ENSEMBLE and 1000 Genome Project has been used to retrieve SNP data in form of VCF file which is further submitted to different software to sort SNPs into benign and deleterious. Selected SNPs are further annotated by using 3-D modeling techniques using I-TASSER online software. Furthermore, selected nsSNPs were checked in Gujrat and Faisalabad population through RFLP analysis. In this study population two SNPs are found to be associated with tuberculosis while one nsSNP is not found to be associated with the disease.

Keywords: association, CD209, DC-SIGN, tuberculosis

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Authors: Sarra Senhadji, Imene Benzeguimi, Zohra Yagoub

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Big Data represents the recent technology of manipulating voluminous and unstructured data sets over multiple sources. Therefore, NOSQL appears to handle the problem of unstructured data. Association rules mining is one of the popular techniques of data mining to extract hidden relationship from transactional databases. The algorithm for finding association dependencies is well-solved with Map Reduce. The goal of our work is to reduce the time of generating of frequent itemsets by using Map Reduce and NOSQL database oriented document. A comparative study is given to evaluate the performances of our algorithm with the classical algorithm Apriori.

Keywords: Apriori, Association rules mining, Big Data, Data Mining, Hadoop, MapReduce, MongoDB, NoSQL

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Authors: B. Suraj Aravind, M. H. M. Krishna Prasad

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There exist emerging applications of data streams that require association rule mining, such as network traffic monitoring, web click streams analysis, sensor data, data from satellites etc. Data streams typically arrive continuously in high speed with huge amount and changing data distribution. This raises new issues that need to be considered when developing association rule mining techniques for stream data. This paper proposes to introduce an improved data stream association rule mining algorithm by eliminating the limitation of resources. For this, the concept of cloud computing is used. Inclusion of this may lead to additional unknown problems which needs further research.

Keywords: data stream, association rule mining, cloud computing, frequent itemsets

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Authors: Ikhlas Ahmed, Jamillah Zamoon

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The human receptor for advanced glycation end product is a plasma membrane receptor with an intrinsically disordered region. The protein consists of three extracellular domains, a single membrane spanning transmembrane domain, and a cytosolic domain which is intrinsically disordered and responsible for signaling. The disordered nature of the cytosolic domain allows it to be dynamic in solution. This receptor self-associates to higher forms. The association is triggered by ligand, metal or by the extracellular domain. Fluorescence spectroscopy technique is used to test the self-association of the different concentrations of the cytosolic domain. This work has concluded that the cytosolic domain of this receptor also self-associates. Moreover, the self-association does not require ligand or metal.

Keywords: fluorescence spectroscopy, hRAGE, IDP, Self-association

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Authors: Zi-Han Li, Zi-Jun Sun, Dong-Yuan Chang, Li Zhu, Min Chen, Ming-Hui Zhao

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Aims: A genome-wide association study (GWAS) reported that patients with the rs55703767 minor allele in collagen type IV α3 chain encoding gene COL4A3 showed protection against diabetic kidney disease (DKD) in type 1 diabetes mellitus (T1DM). However, the role of rs55703767 in type 2 DKD has not been elucidated. The aim of the current study was to investigate the association between COL4A3 variant rs55703767 and DKD risk in Chinese patients with type 2 diabetes mellitus (T2DM). Methods: This nested case-control study was performed on 1311 patients who had T2DM for at least 10 years, including 580 with DKD and 731 without DKD. We detected the genotypes of all patients by TaqMan SNP Genotyping Assay and analyzed the association between COL4A3 variant rs55703767 and DKD risk. Results: Genetic analysis revealed that there was no significant difference between T2DM patients with DKD and those without DKD regarding allele or genotype frequencies of rs55703767, and the effect of this variant was not hyperglycemia specific. Conclusion: Our findings suggested that there was no detectable association between the COL4A3 variant rs55703767 and the susceptibility to DKD in the Chinese T2DM population.

Keywords: collagen type IV α3 chain, gene polymorphism, type 2 diabetes, diabetic kidney disease

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Authors: Atefeh Esmailnejad, Gholamreza Nikbakht Brujeni

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Major histocompatibility complex (MHC) is one of the best characterized genetic regions associated with immune responses and controlling disease resistance in chicken. Association of the MHC with a wide range of immune responses makes it a valuable predictive factor for the disease pathogenesis and outcome. In this study, the association of MHC with cell-mediated immune responses was analyzed in commercial broiler chicken. The tandem repeat LEI0258 was applied to investigate the MHC polymorphism. Cell-mediated immune response was evaluated by peripheral blood lymphocyte proliferation assay using MTT method. Association study revealed a significant influence of MHC alleles on cellular immune responses in this population. Alleles 385 and 448 bp were associated with elevated cell-mediated immunity. Haplotypes associated with improved immune responses could be considered as candidate markers for disease resistance and applied to breeding strategies.

Keywords: MHC, cell-mediated immunity, broiler, chicken

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Authors: Shian-Ling Keng, Onn Siong Yim, Poh San Lai, Soo Chong Chew, Anne Chong, Richard Ebstein

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Research has demonstrated a positive association between mindfulness meditation and physical health. Little work, however, has examined the association between trait mindfulness and leukocyte telomere length (LTL), an emerging marker of cellular aging. The present study aimed to examine whether facets of trait mindfulness are correlated with longer LTL in a Singaporean Han Chinese sample and whether these facets may mediate the association between psychological symptoms and LTL. 158 adults (mean age = 27.24 years) completed measures assessing trait mindfulness and psychological symptoms (i.e., depression and stress) and provided blood samples for analyses of LTL using qPCR. Multiple regression analyses were conducted to assess the association between facets of trait mindfulness and LTL. Bootstrapping-based mediational analyses were run to examine the role of trait mindfulness as a mediator of the association between psychological symptoms and LTL. Of five facets of trait mindfulness (describe, act with awareness, observe, nonreactivity, and nonjudging), nonreactivity was significantly associated with LTL, after controlling for the effects of age, gender, and education, β = .21, p = .006. Further, there was a trend for overall trait mindfulness, β = .15, p = .06, and nonjudging, β = .13, p = .095, to each predict longer LTL. Nonreactivity significantly mediated the association between depression and LTL, BCa 95% CI [-.004, -.0004], p=.03, as well as the association between stress and LTL, BCa 95% CI [-.004, -.0004], p=.04. The results provide preliminary evidence for a positive association between selected facets of trait mindfulness and slower cellular aging, indexed by LTL. The findings suggest that individuals who are high on equanimity may experience slower aging at the cellular level, presumably through engaging in more effective coping mechanisms and modulation of stress. The findings also highlight the role of nonreactivity as a potential mechanism that underlies the association between LTL and psychological symptoms.

Keywords: depression, mindfulness, stress, telomere length

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Authors: Eko Budi Santoso

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There is a growing interest in Corporate Social Responsibility (CSR) issues in developing countries such as Indonesia. Firms disclose their CSR activities, and some provide assurance to gain recognition as socially responsible firms. However, several of those socially responsible firms involve in tax scandals and raise a question of whether CSR disclosure is used to disguise firm misconduct or as a reflection of socially responsible firms. Specifically, whether firms engage in CSR disclosure and its assurance also responsible for their tax matters. This study examines the association between CSR disclosure and tax aggressiveness and the role of sustainability reporting assurance to the association. This research develops a modified index according to global reporting initiatives to measure CSR disclosure and various measurement for tax aggressiveness. Using a sample of Indonesian go public companies issued CSR disclosure, the empirical result shows that there is an association between CSR disclosure and tax aggressiveness. In addition, results also indicate sustainability reporting assurance moderate those association. The findings suggest that stakeholder in developing countries should examine carefully firms with active CSR disclosure before label it as socially responsible firms. JEL Classification: M14

Keywords: CSR disclosure, tax aggressiveness, assurance, business ethics

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Authors: Maomao Cao

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Background and aims While the association between higher consumption of fish and lower liver cancer risk has been confirmed, however, the association between specific fish intake and liver cancer risk remains unknown. We aimed to identify the association between specific fish consumption and the risk of liver cancer. Methods: Based on a community-based seropositive hepatitis B cohort involving 18404 individuals, face to face interview was conducted by a standardized questionnaire to acquire baseline information. Three common fish types in this study were analyzed, including freshwater fish, sea fish, and small fish (shrimp, crab, conch, and shell). All participants received liver cancer screening, and possible cases were identified by CT or MRI. Multivariable logistic models were applied to estimate the odds ratio (OR) and 95% confidence intervals (CI). Multivariate multiple imputations were utilized to impute observations with missing values. Results: 179 liver cancer cases were identified. Consumption of freshwater fish and sea fish at least once a week had a strong inverse association with liver cancer risk compared with the lowest intake level, with an adjusted OR of 0.53 (95% CI, 0.38-0.75) and 0.38 (95% CI, 0.19-0.73), respectively. This inverse association was also observed after the imputation. There was no statistically significant association between intake of small fish and liver cancer risk (OR=0.58, 95%, CI 0.32-1.08). Conclusions: Our findings suggest that consumption of freshwater fish and sea fish at least once a week could reduce liver cancer risk.

Keywords: cross-sectional study, fish intake, liver cancer, risk factor

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Authors: Diego De Castro Rodrigues, Marcelo Lisboa Rocha, Daniela M. De Q. Trevisan, Marcos Dias Da Conceicao, Gabriel Rosa, Rommel M. Barbosa

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The use of association rules algorithms within data mining is recognized as being of great value in the knowledge discovery in databases. Very often, the number of rules generated is high, sometimes even in databases with small volume, so the success in the analysis of results can be hampered by this quantity. The purpose of this research is to present a method for reducing the quantity of rules generated with association algorithms. Therefore, a computational algorithm was developed with the use of a Weka Application Programming Interface, which allows the execution of the method on different types of databases. After the development, tests were carried out on three types of databases: synthetic, model, and real. Efficient results were obtained in reducing the number of rules, where the worst case presented a gain of more than 50%, considering the concepts of support, confidence, and lift as measures. This study concluded that the proposed model is feasible and quite interesting, contributing to the analysis of the results of association rules generated from the use of algorithms.

Keywords: data mining, association rules, rules reduction, artificial intelligence

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Authors: Jae Woong Sull, Sun Ha Jee

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High-density lipoprotein (HDL) cholesterol levels are associated with decreased risk of coronary artery disease. Several genome-wide association studies (GWAS) for HDL cholesterol levels have implicated cholesterol ester transfer protein (CETP) as possibly causal. We tested for the association between single nucleotide polymorphisms (SNPs) in CETP gene and HDL cholesterol levels in Korean population. Subjects were selected from the Korean Metabolic Syndrome Research Initiative study in the Bundang-Gu area. A total of 2,304 individuals from Bundang-Gu were recruited in 2008. Other subjects were selected from the Severance Hospital (N=4,294). SNP rs6499861 in the CETP gene was associated with mean HDL cholesterol levels (effect per allele -2.044 mg/dL, p=7.23×10-7). Subjects with the CG/GG genotype had a 1.46 -fold (range 1.24–1.72-fold) higher risk of having abnormal HDL cholesterol levels (<40 mg/dL) than subjects with the CC genotype. When analyzed by gender, the association of CETP was stronger in women than in men. When analyzed by physical activity behavior, the association with CETP was much stronger in male subjects with low physical activity (OR=1.54, 95% CI: 1.23-1.92, P=0.0001) than in male subjects with high physical activity. This study clearly demonstrates that genetic variants in CETP influence HDL cholesterol levels in Korean adults.

Keywords: CETP, HDL cholesterol, physical activity, polymorphisms

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Authors: Syed Sameer Aga, Saniya Nissar

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The Xeroderma pigmentosum group D gene (XPD) plays a key role in nucleotide excision repair (NER) pathway of the damaged DNA. Genetic polymorphisms in the coding region of the XPD gene may alter DNA repair capacity of the protein and hence can modulate the risk of colorectal cancer (CRC) risk. The aim of the study was to determine the genetic association of XPD Lys751Gln polymorphism with the risk of colorectal cancer (CRC) development. 120 CRC patients and 160 normal controls were assessed for genotype frequencies of XPD Lys751Gln polymorphism using PCR-RFLP technique. We observed a significant association (p < 0.05) between the XPD Lys751Gln polymorphism and the risk of developing CRC (p < 0.05). Additionally, Gln/Gln genotype of the XPD gene doubled the risk for the development of CRC [p < 0.05; OR=2.25 95% CI (1.07-4.7)]. Our results suggest that there is a significant association between the XPD Lys751Gln polymorphism and the risk of CRC.

Keywords: colorectal cancer, polymorphism, RFLP, DNA Repair, NER, XPD

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Authors: Foad Alzoughool

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Conflicting studies on the association between the rs5219 polymorphism and type 2 diabetes, some studies have confirmed a strong relationship between this variant and type2 diabetes, on the other hand, many studies denied the existence of this association. This study aimed to provide evidence about whether the rs5219 polymorphism has or hasn't a role as a risk factor for diabetes and meta-analysis to investigate the role of the control age group in the association. Genotyping of the rs5219 polymorphism was performed in a cohort of 266 healthy elderly subjects with a mean age (60.2 ± 5.1) with no history of diabetes (HbA1c < 6%) using standard Sanger sequencing methods. Lys/Lys alleles were detected in 20 persons (7.5%), Lys/Glu alleles in 96 persons (36.1%), and Glu/Glu in 150 persons (56.4%). The genotype distribution was consistent with Hardy–Weinberg equilibrium (P =0.7). Meta-analysis notably indicates no association between rs5219 polymorphism and type 2 diabetes in all studies used the younger age of the control group compared to the patient's age. In conclusion, our study sheds light on the importance of age factor among the control group recruited in case-control studies.

Keywords: Type 2 diabetes, rs5219 polymorphism, E23K, KCNJ11 gene

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Authors: B. Chandra

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In Association Rule Mining, much attention has been paid for developing algorithms for large (frequent/closed/maximal) itemsets but very little attention has been paid to improve the performance of rule generation algorithms. Rule generation is an important part of Association Rule Mining. In this paper, a novel approach named NARG (Association Rule using Antecedent Support) has been proposed for rule generation that uses memory resident data structure named FCET (Frequent Closed Enumeration Tree) to find frequent/closed itemsets. In addition, the computational speed of NARG is enhanced by giving importance to the rules that have lower antecedent support. Comparative performance evaluation of NARG with fast association rule mining algorithm for rule generation has been done on synthetic datasets and real life datasets (taken from UCI Machine Learning Repository). Performance analysis shows that NARG is computationally faster in comparison to the existing algorithms for rule generation.

Keywords: knowledge discovery, association rule mining, antecedent support, rule generation

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Authors: Amal Baalash, Shazia Mukaddam, M. Adel El-Sayed

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Background: Several studies have suggested non-skeletal effects of vitamin D and linked its deficiency with features of many chronic conditions. In this study, We aimed to investigate the relationship between vitamin D levels and different components of the metabolic syndrome in male and female Saudi patients. Methods: the study population consisted of 111 patients with metabolic syndrome (71 females and 40 males) aged 37-63 years enrolled from patients attending the internal medicine outpatient clinics of King Fahad Medical City. The parameters for diagnosis of the metabolic syndrome according to the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) were measured, which included waist circumference, TG, HDL-C, Blood pressure and fasting blood glucose (FBS). The association between each parameter and serum 25-hydroxyvitamin D (25(OH) D) was studied in both male and female patients separately. Results: in male patients, 25(OH) D levels were inversely associated with FBS and TG and positively associated with HDL-C and diastolic blood pressure, With highest association with the HDL-C levels. On the other hand 25(OH) D, Showed no significant association with any of the measured metabolic syndrome parameters in female patients. Conclusion: in Saudi patients with metabolic syndrome, the association between the parameters of metabolic syndrome and the levels of 25 (OH) D is more pronounced in males rather than females.

Keywords: gender, metabolic syndrome, Saudi patients, vitamin D

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Authors: Amdouni Hamida, Gammoudi Mohamed Mohsen

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In order to help the expert to validate association rules extracted from data, some quality measures are proposed in the literature. We distinguish two categories: objective and subjective measures. The first one depends on a fixed threshold and on data quality from which the rules are extracted. The second one consists on providing to the expert some tools in the objective to explore and visualize rules during the evaluation step. However, the number of extracted rules to validate remains high. Thus, the manually mining rules task is very hard. To solve this problem, we propose, in this paper, a semi-automatic method to assist the expert during the association rule's validation. Our method uses rule-based classification as follow: (i) We transform association rules into classification rules (classifiers), (ii) We use the generated classifiers for data classification. (iii) We visualize association rules with their quality classification to give an idea to the expert and to assist him during validation process.

Keywords: association rules, rule-based classification, classification quality, validation

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Authors: Murniwati, Nurul Khairiyah, Putri Ovieza Maizar

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The association between general and oral health is clearly important, particularly in adults with medical conditions. Many of the medical systemic conditions are either caused or aggravated by poor oral hygiene and vice versa. Hypertension is one of common medical systemic problem which has been a public health concern worldwide due to its known consequences. Those consequences must be related to oral health status as well, whether it may cause or worsen the oral health conditions. The objective of this study was to find out the association between hypertension and oral health status in adults. This study was an analytical observational study by using cross-sectional method. A total of 42 adults both male and female in Padusunan Village, Pariaman, West Sumatra, Indonesia were selected as subjects by using purposive sampling. Manual sphygmomanometer was used to measure blood pressure and dental examination was performed to calculate the decayed, missing, and filled teeth (DMFT) scores in order to represent oral health status. The data obtained was analyzed statistically using One Way ANOVA to determine the association between hypertensive adults and their oral health status. The result showed that majority age of the subjects was ranging from 51-70 years (40.5%). Based on blood pressure examination, 57.1% of subjects were classified to prehypertension. Overall, the mean of DMFT score calculated in normal, prehypertension and hypertension group was not considered statistically significant. There was no significant association (p>0.05) between hypertension and oral health status in adults.

Keywords: blood pressure, hypertension, DMFT, oral health status

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Authors: Ke Qiu, Minzi Mao, Jianjun Ren, Yu Zhao

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Although much has been done to investigate the influence of obstructive sleep apnea (OSA) on cognitive function, little attention has been paid to the role which gender differences play in this association. In the present study, we aim to explore the gender-specific association between OSA and cognitive impairment. Participants from UK biobank who have completed at least one of the five baseline cognitive tests (visuospatial memory, prospective memory, fluid intelligence, short numeric memory and reaction time) were included and were further categorized into three groups: (1) OSA, (2) self-reported snoring but without OSA, and (3) healthy controls (without OSA or snoring). Multivariable regression analysis was performed to examine the associations among snoring, OSA and performance of each of the five cognitive domains. A total of 267,889 participants (47% male, mean age: 57 years old) were included in our study. In the multivariable regression analysis, female participants in the OSA group had a higher risk of having poor prospective memory (OR: 1.24, 95% CI: 1.02～1.50, p = 0.03). Meanwhile, among female participants, OSA were inversely associated with the performances of fluid intelligence (β: -0.29, 95% CI: -0.46～-0.13, p < 0.001) and short-numeric memory (β: -0.14, 95% CI: -0.35～0.08, p = 0.02). In contrast, among male participants, no significant association was observed between OSA and impairment of the five cognitive domains. Overall, OSA was significantly associated with cognitive impairment in female participants rather than in male participants, indicating that more special attention and timely interventions should be given to female OSA patients to prevent further cognitive impairment.

Keywords: obstructive sleep apnea (OSA), cognitive impairment, gender-specific association, UK biobank

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Authors: Qiao Fan, Xiaobo Guo, Junxian Zhu, Xiaohu Ding, Ching-Yu Cheng, Tien-Yin Wong, Mingguang He, Heping Zhang, Xueqin Wang

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A systematic, simultaneous analysis of multiple phenotypes in genome-wide association studies (GWASs) draws a great attention to integrate the signals from single phenotypes with increased power. However, lacking an interpretable and efficient multivariate GWAS analysis impede the application of such approach. In this study, we propose to decompose the multivariate model into a series of simple univariate models. This transformation illuminates what exactly the individual trait contributes to the significant signals from the multivariate analyses. By employing our approach in the analysis of three myopia-related endophenotypes from the Singapore Malay Eye Study (SIMES), we identify novel candidate loci which were successfully validated in an independent Guangzhou Twin Eye Study (GTES).

Keywords: GWAS multivariate, multiple traits, myopia, association

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Authors: Ali Azeem, Seung-Cheol Hong

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This study focuses on the epidemiological association between childhood leukaemia & adult brain cancer to offer strong evidence that extremely low-frequency magnetic field (ELF-MF) produced from power lines caused cancer. It also gives a comprehensive literature review on epidemiological studies of ELF-MF risk associated with HVTL and childhood leukaemia & adult brain cancer. From the literature review, it is concluded that there is a weak association present between ELF-MF and childhood leukaemia. No consistent association was present between brain cancer and ELF-MF. This study is done on Scielo data and PubMed using the terms extremely low-frequency magnetic field (ELF-MF+cancer), adult brain cancer, high power transmission lines, etc., for the past 10 years.

Keywords: childhood leukaemia, high voltage transmission lines, acute lymphoblastic leukaemia, power lines

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Authors: Archana Singh, Jyoti Agarwal, Ajay Rana

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Data Mining is an efficient technology to discover patterns in large databases. Association Rule Mining techniques are used to find the correlation between the various item sets in a database, and this co-relation between various item sets are used in decision making and pattern analysis. In recent years, the problem of finding association rules from large datasets has been proposed by many researchers. Various research papers on association rule mining (ARM) are studied and analyzed first to understand the existing algorithms. Apriori algorithm is the basic ARM algorithm, but it requires so many database scans. In DIC algorithm, less amount of database scan is needed but complex data structure lattice is used. The main focus of this paper is to propose a new optimized algorithm (Friendly Algorithm) and compare its performance with the existing algorithms A data set is used to find out frequent itemsets and association rules with the help of existing and proposed (Friendly Algorithm) and it has been observed that the proposed algorithm also finds all the frequent itemsets and essential association rules from databases as compared to existing algorithms in less amount of database scan. In the proposed algorithm, an optimized data structure is used i.e. Graph and Adjacency Matrix.

Keywords: association rules, data mining, dynamic item set counting, FP-growth, friendly algorithm, graph

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Authors: Khadidja Belbachir, Hafida Belbachir

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subsequently the expansion of the physical supports storage and the needs ceaseless to accumulate several data, the sequential algorithms of associations’ rules research proved to be ineffective. Thus the introduction of the new parallel versions is imperative. We propose in this paper, a parallel version of a sequential algorithm “Partition”. This last is fundamentally different from the other sequential algorithms, because it scans the data base only twice to generate the significant association rules. By consequence, the parallel approach does not require much communication between the sites. The proposed approach was implemented for an experimental study. The obtained results, shows a great reduction in execution time compared to the sequential version and Count Distributed algorithm.

Keywords: association rules, distributed data mining, partition, parallel algorithms

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Authors: Najeeb Ullah Khan

Abstract:

Background: The receptor activator NF-κβ ligand (RANKL) and Osteoprotegerin (OPG) polymorphisms have been associated with the progression of breast cancer to bone metastasis. Here, we aimed to investigate the association of RANKL and OPG gene polymorphism with breast to bone metastasis in the Pashtun population, Pakistan. Methods: Genomic DNA was obtained from all the study subjects (106 breast cancer, 58 breast to bone metastasis, and 51 healthy controls). RANKL (rs9533156) and OPG (rs2073618, rs3102735) polymorphisms were genotyped using Tetra-ARMS PCR. Results: Our results indicated that the frequencies of OPG (rs3102735) risk allele and genotypes carrying risk allele in breast cancer vs healthy control (C- p=0.005; CC- p=0.0208; TC- p=0.0181), bone metastasis vs healthy control (C- p=0.0211; CC- p=0.0153; TC- p=0.0775), and breast cancer vs breast to bone metastasis (C- p=0.0001; CC- p=0.0001; TC- p=0.001) were found significantly associated with disease risk. However, there was no significant association observed for OPG (rs2073618) risk allele and risk allele containing genotypes in all study groups. Similarly, RANKL (rs9533156) risk alleles and corresponding genotypes in breast cancer vs healthy control (C- p=0.0001; CC- p=0.0001; TC- p=0.0084), bone metastasis vs healthy control (C- p=0.0001; CC- p=0.0001; TC- p=0.5593), and breast cancer vs breast to bone metastasis (C- p=0.0185; CC- p=0.6077; TC- p=0.1436) showed significant association except for the risk allele carrying genotypes in breast cancer to bone metastasis (TC, p=0.1436; CC, p=0.6077). Conclusion: OPG (rs3102735) and RANKL (rs9533156) showed significant association with breast to bone metastasis, while OPG (rs2073618) didn’t show a significant association with breast to bone metastasis in Pashtun population of Pakistan. However, more investigation will be required to disseminate the results while gene sequencing or whole-exome sequencing.

Keywords: breast cancer, bone metastasis, OPG, RANKL, polymorphism

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