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 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
... Show MoreGlutathione S-transferases (GSTs) are enzymes that included, in a more range of detoxifying reactions by conjugation of glutathione, to electrophilic material. Polymorphisms n the genes that responsible of GSTs affect, the function of the GSTs. GSTs play an active role in protection of cell against oxidative stress mechanism. Polymorphisms of GSTP1 at codon 105 amino acids forms GSTP1 important site for bind of hydrophobic electrophiles and the substitution of Ile/Val affect substrate specially catalytic activity of the enzyme and may correlate with reach to different diseases in human like diabetes mellitus type2 disease. Correlation between these polymorphisms and changes in the parameters file of diabetic patients has also bee
... Show MoreA total of (90) blood samples were collected from male patients infected with Toxoplasmosis who recovered from COVID- 19 and attended Kamal Alsamiraai Hospital from 15 January to 15 September 2021. We measured anti-Toxoplasma antibodies (IgG and IgM) detected by ELISA, whereas Anti-COVID-19 antibodies (IgG and IgM) were estimated using Elisa and Afilias. The semen characteristics were also studied among fertile, healthy individuals (control group) and sub-fertile patients. Results showed that the mean sperm count was high among the control group (40.5±1.3x 106/ml) compared with that of the sub-fertile patients (10.3±1.75 and 8.8±1.9 x 106/ml for oligozoospermia, and oligoasthenozoospermia respectively), and it was the highest (44.7±1.4
... Show Moreخلفية البحث: مرض السكري هو عامل خطر لأمراض القلب والأوعية الدموية وتصلب الشرايين وسبب مهم للوفاة. يرتبط خلل الدهون في الدم بشكل شائع بمرض السكري من النوع الثاني ويعتبر مؤشر تصلب الشرايين في البلازما علامة قوية للتنبؤ بخطر الإصابة بتصلب الشرايين وأمراض القلب التاجية. الهدف من البحث: دراسة ارتباط المؤشرات الدهنية لتصلب الشرايين لدى المرضى العراقيين المصابين بالسكري من النوع الثاني ولديهم أمراض قلبية وعائ
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