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 haplotype 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.It starts with inferring haplotypes from genotypes followed by a haplotype co-classification and marginal screening for disease-associated haplotypes.Unfortunately,phasing uncertainty may have a strong effects on the haplotype co-classification and therefore on the accuracy of predicting risk haplotypes.Here,to address the issue,we propose an alternative approach:In Stage 1,we select potential risk genotypes inste
... Show MorePvcABCD are cluster of genes found in Pseudomonas aeruginosa. The research was designed to examine the relationship between the pvc genes expression and cupB gene, which plays a crucial role in the development of biofilm, and rhlR, which regulates the expression of biofilm-related genes, and to investigate whether the pvc genes form one or two operons. The aims were achieved by employing qRT-PCR technique to measure the gene expression of genes of interest. It was found that out of 25 clinical isolates, 21 isolates were qualified as P.aeruginosa. Amongst, 18(85.7%) were evaluated as biofilm producers, 10 (47.6%), 5 (23.8%), and 3 (14.2%) were evaluated as strong, moderate and weak producers respectively, while, 3 (14.2%) were considered
... Show MoreType 1 diabetes (T1D) is an autoimmune disease with chronic nature resulting from a combination of both factors genetic and environmental. The genetic contributors of T1D among Iraqis are unexplored enough. The study aimed to shed a light on the contribution between genetic variation of interleukin2 (IL2) gene to T1D as a risk influencer in a sample of Iraqi patients. The association between IL2−330 polymorphism (rs2069762) was investigated in 322 Iraqis (78 T1D patients and 244 volunteers as controls). Genotyping for the haplotypes using polymerase chain reaction test – specific sequence primer (PCR-SSP) for (GG, GT, and TT) genotypes corresponding to (G and T) alleles were performed. A significant association revealed a decreased freq
... Show MoreUropathogenic specific protein is a genotoxic protein targeting the DNA, leading to mutations and modifications in the normal cell's DNA and subsequently, cancer development. This study aims to determine the prevalence of the usp gene in Uropathogenic Escherichia coli isolated from females with urinary tract infections and study its correlation with biofilm formation. One hundred and five urine specimens were collected from female patients (20 to 55 years old) with urinary tract infections attending hospitals. Traditional laboratory methods using selective and differential culture media were used for initial bacterial isolation and identification, and molecular techniques that targeted a segment of the 16SrRNA gene with a specific primer pa
... Show MoreThe study aimed to establish the association of miR-153-3p expression with treatment response to IM in CML patients. Sixty CML patients were included and divided into two groups consistent with their response to treatment whether sensitive or resistant to IM. Ten healthy normal participants were enrolled as control group. RNA was extracted from serum to work out miR-153-3p expression utilizing real-time quantitative reverse transcription polymerase chain reaction. The primers were supplied by Macrogen Inc. Twenty seven patients were sensitive to imatinib and 33 were resistant to imatinib. The ratio of male to female was 1.14:1. The bulk (58%) of patients were within the age range of 41-60 years. Weight and gender did not significantly diffe
... Show MoreThe utilization of targeted therapy for programmed death ligand 1 (PD‑L1) has emerged as a prominent focus in contemporary clinical trials, particularly in the context of immune checkpoint inhibitors. The prognostic significance of the expression of PD‑L1 in invasive mammary cancer remains a subject of discussion in clinical oncology, requiring further exploration, despite its recognition as a biomarker for responsiveness to anti‑PDL1 immunotherapy. The present study was conducted to investigate the immunohistological expression of PD‑L1 in women with triple‑negative breast cancer (TNBC), with a particular focus for searching for the associated clinical and pathological characteristics. The present retrospective study examined the
... Show MoreAlteration of repeat tract length within the SSR of phase variable genes may enhance the persistence of isolates within their host for a long time (a period of months) (Alamro et al.,2014). Alamro et al. (2014) showed there was trend towards selection for OFF state or low expression for five phase variable genes (opc, hmbr, nadA, nalP, hpuAB) in three carriers (V54, V124 and V64) within strains belonging into CC174 and CC167 in first, second and third time points. He concluded that the selection for low or OFF state helped N. meningitidis to persist for a long time (Alamro et al., 2014). The current study aimed to detect the alteration in the repeat tracts of the same five variable genes within the previous three carriers (V54, V124, and V6
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