Multilocus haplotype analysis of candidate variants with genome wide association studies (GWAS) data may provide evidence of association with disease, even when the individual loci themselves do not. Unfortunately, when a large number of candidate variants are investigated, identifying risk haplotypes can be very difficult. To meet the challenge, a number of approaches have been put forward in recent years. However, most of them are not directly linked to the disease-penetrances of haplotypes and thus may not be efficient. To fill this gap, we propose a mixture model-based approach for detecting risk haplotypes. Under the mixture model, haplotypes are clustered directly according to their estimated disease penetrances. A theoretical justification of the above model is provided. Furthermore, we introduce a hypothesis test for haplotype inheritance patterns which underpin this model. The performance of the proposed approach is evaluated by simulations and real data analysis. The results show that the proposed approach outperforms an existing multiple testing method.
The region-based association analysis has been proposed to capture the collective behavior of sets of variants by testing the association of each set instead of individual variants with the disease. Such an analysis typically involves a list of unphased multiple-locus genotypes with potentially sparse frequencies in cases and controls. To tackle the problem of the sparse distribution, a two-stage approach was proposed in literature: In the first stage, haplotypes are computationally inferred from genotypes, followed by a haplotype coclassification. In the second stage, the association analysis is performed on the inferred haplotype groups. If a haplotype is unevenly distributed between the case and control samples, this haplotype is labeled
... Show MoreCoeliac disease is an immunologically mediated disease of the small intestinal mucosa, characterized by flattening of the small intestinal villi, increased numbers of intra-epithelial lymphocytes and inflammatory cell infiltrates in the lamina propria, resulting in gut damage and nonspecific malabsorption of nutrients. The disease is elicited by ingestion of gluten, a protein found in several cereals, principally wheat, but also barley and to a lesser extent, oats. Successful treatment is avoidance of dietary gluten. Long-standing evidence suggests a T-cell-mediated response to peptides derived from the gliadin fraction of wheat gluten, leading to immunologically mediated intestinal injury in genetically susceptible individuals. The
... Show MoreBackground: The association between oral microbial infection and systemic disease is not a new concept. A major confounding issue is that oral infections often are only one of the many important factors that can influence systemic diseases .Objective: This study was conducted to evaluate the periodontal health status of patients with acquired coronary heart disease. Type of the study: Cross-sectional study.Methods: The study group consisted of 200 patients with an age range (35-70) years, having coronary heart disease .This study group were compared to a control group of non-coronary heart disease (200 individuals ) matching with age and gender. The oral parameters were examined including the periodontal conditions, assessment of periodo
... Show MoreIntroduction: Biliary atresia (BA) is a disease characterized by a biliary obstruction of unknown origin. Viral agents have been proposed in the aetiology of BA such as cytomegalovirus (CMV). This virus also considered as a one of agents that can infect the liver and cause hepatitis. The aim of this study was to determine the role of CMV in children with both chronic hepatitis (negative for hepatitis B and C) and have biliary atresia in the same time.Material and Methods: A retrospective study done on 13 liver tissue paraffin blocks of children with chronic hepatitis (negative for hepatitis B and C) and biliary atresia (extra and intra). The diagnosis was based on the presence of HCMV protein (pp65) by using immunohistochemistry.Res
... Show MoreBackground: Helicobacter pylorus is one of the most harmful human pathogens & carcinogen. Of the world's population, more than 50% has H. pylori in their upper gastrointestinal tracts. It has been linked to a variety of extra gastric disorders. In correlation to hepatobiliary diseases; recently, the bacterium has been implicated as a risk factor for various diseases ranging from chronic cholecystitis and primary biliary sclerosing cholangitis to gall bladder cancer and primary hepatic carcinomas. However, the association between Helicobacter pylori (H. pylori) and gallbladder diseases is still vague and is controversial.
Aim of study: To elucidate the association of H pylori and gallbladder diseases (calculu
... Show MoreAbortion is categorized as the termination of conception caused by the failure or removal of the embryo from the uterus before the conclusion of pregnancy. Microorganisms and genetic factors are two of the many factors associated with abortion. Cytomegalovirus is a widespread congenital virus infection pathogen that affects a wide variety of people. The prothrombin gene is one of the essential causes that trigger blood clotting and the function of abortion women, therefore the aim of the study is to detect and associate Cytomegalovirus and prothrombin gene mutation (Gene ID: 14061 in NCBI) with abortion through genetic and immunological methods. Five ml of whole blood was collected from an intravenous puncture and divided into two tubes,
... Show MoreCrime is considered as an unlawful activity of all kinds and it is punished by law. Crimes have an impact on a society's quality of life and economic development. With a large rise in crime globally, there is a necessity to analyze crime data to bring down the rate of crime. This encourages the police and people to occupy the required measures and more effectively restricting the crimes. The purpose of this research is to develop predictive models that can aid in crime pattern analysis and thus support the Boston department's crime prevention efforts. The geographical location factor has been adopted in our model, and this is due to its being an influential factor in several situations, whether it is traveling to a specific area or livin
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