75 research outputs found

    Quantitative trait loci conferring grain mineral nutrient concentrations in durum wheat 3 wild emmer wheat RIL population

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    Mineral nutrient malnutrition, and particularly deficiency in zinc and iron, afflicts over 3 billion people worldwide. Wild emmer wheat, Triticum turgidum ssp. dicoccoides, genepool harbors a rich allelic repertoire for mineral nutrients in the grain. The genetic and physiological basis of grain protein, micronutrients (zinc, iron, copper and manganese) and macronutrients (calcium, magnesium, potassium, phosphorus and sulfur) concentration was studied in tetraploid wheat population of 152 recombinant inbred lines (RILs), derived from a cross between durum wheat (cv. Langdon) and wild emmer (accession G18-16). Wide genetic variation was found among the RILs for all grain minerals, with considerable transgressive effect. A total of 82 QTLs were mapped for 10 minerals with LOD score range of 3.2–16.7. Most QTLs were in favor of the wild allele (50 QTLs). Fourteen pairs of QTLs for the same trait were mapped to seemingly homoeologous positions, reflecting synteny between the A and B genomes. Significant positive correlation was found between grain protein concentration (GPC), Zn, Fe and Cu, which was supported by significant overlap between the respective QTLs, suggesting common physiological and/or genetic factors controlling the concentrations of these mineral nutrients. Few genomic regions (chromosomes 2A, 5A, 6B and 7A) were found to harbor clusters of QTLs for GPC and other nutrients. These identified QTLs may facilitate the use of wild alleles for improving grain nutritional quality of elite wheat cultivars, especially in terms of protein, Zn and Fe

    Genetic Association of a Gain-of-Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With Behcet's Disease

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    Objective. Behçet’s disease is a complex systemic inflammatory vasculitis of incompletely understood etiology. This study was undertaken to investigate genetic associations with Behçet’s disease in a diverse multiethnic population.Methods. A total of 9,444 patients and controls from 7 different populations were included in this study. Genotyping was performed using an Infinium ImmunoArray- 24 v.1.0 or v.2.0 BeadChip. Analysis of expression data from stimulated monocytes, and epigenetic and chromatin interaction analyses were performed.Results. We identified 2 novel genetic susceptibility loci for Behçet’s disease, including a risk locus in IFNGR1(rs4896243) (odds ratio [OR] 1.25; P = 2.42 × 10−9) and within the intergenic region LNCAROD/DKK1 (rs1660760) (OR 0.78; P = 2.75 × 10−8). The risk variants in IFNGR1 significantly increased IFNGR1 messenger RNA expression in lipopolysaccharide- stimulated monocytes. In addition, our results replicated the association (P 30 genetic susceptibility loci with a suggestive level of association (P < 5 × 10−5), which will require replication. Finally, functional annotation of genetic susceptibility loci in Behçet’s disease revealed their possible regulatory roles and suggested potential causal genes and molecular mechanisms that could be further investigated.Conclusion. We performed the largest genetic association study in Behçet’s disease to date. Our findings reveal novel putative functional variants associated with the disease and replicate and extend the genetic associations in other loci across multiple ancestries

    Lasting hepatotoxic effects of prenatal mobile phone exposure

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    Yazici, Zihni Acar/0000-0003-1603-6545; yilmaz, adnan/0000-0003-4842-1173WOS: 000400381900020PubMed: 27427155Objective: in this study, the livers of rats born to mothers exposed to electromagnetic field (EMF) were examined 60 days postpartum for biochemical and histopathological changes.Methods: Pregnant rats were exposed to radiation (900MHz EMF, 24h/day for 20 days) using a digital signal generator by placing the device centrally under the cage, which formed the study (EMF) group, while untreated matching rats served as controls. Livers and blood were obtained from litters (seven males and seven females) of both groups 60 days after birth, which were used for biochemical and histopathological analyses.Results: There was a significant increase in the levels of malondialdehyde (MDA) (p<0.05) that was accompanied by a significant fall in glutathione (GSH) (p<0.01) in the liver. the serum levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) were significantly increased (p<0.05). Histopathologically, the liver sections of the EMF group showed intense degeneration in hepatocytes with cytoplasmic eosinophilic structures, pyknotic nuclei and fibrosis.Conclusion: We demonstrate that the intrauterin harmful effects of EMF on the livers of rats persist into adulthood

    Behçet disease with vascular involvement: Effects of different therapeutic regimens on the incidence of new relapses

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    Vascular involvement is one of the major causes of mortality and morbidity in Behcet disease (BD). There are no controlled studies for the management of vascular BD (VBD), and according to the EULAR recommendations, only immunosuppressive (IS) agents are recommended. In this study, we aimed to investigate the therapeutic approaches chosen by Turkish physicians during the initial event and relapses of VBD and the association of different treatment options with the relapses retrospectively. Patients with BD (n-936, female/male: 347/589, mean age: 37.6 ± 10.8) classified according to ISG criteria from 15 rheumatology centers in Turkey were included. The demographic data, clinical characteristics of the first vascular event and relapses, treatment protocols, and data about complications were acquired. VBD was observed in 27.7% (n - 260) of the patients during followup. In 57.3% of the VBD patients, vascular involvement was the presenting sign of the disease. After the first vascular event, ISs were given to 88.8% and AC treatment to 59.8% of the patients. Median duration of AC treatment was 13 months (1-204) and ISs, 22 months (1-204). Minor hemorrhage related to AC treatment was observed in 7 (4.7%) patients. Asecond vascular event developed in 32.9% (n=86) of the patients. The vascular relapse rate was similar between patients taking only ISs and AC plus IS treatments after the first vascular event (29.1% vs 22.4%, P=0.28) and was significantly higher in group taking only ACs than taking only ISs (91.6% vs 29.1%, P0.001). During follow-up, a third vascular event developed in 17 (n = 6.5%) patients. The relapse rate was also similar between the patients taking only ISs and AC plus IS treatments after second vascular event (25.3% vs 20.8%, P=0.93). When multivariate analysis was performed, development of vascular relapse negatively correlated with only IS treatments. We did not find any additional positive effect of AC treatment used in combination with ISs in the course of vascular involvement in patients with BD. Severe complications related to AC treatment were also not detected. Our results suggest that short duration of IS treatments and compliance issues of treatment are the major problems in VBD associated with vascular relapses during follow-up. Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved

    Investigation of temporal bone asymmetry in cases with unilateral tinnitus: morphometric and multicentric clinical study.

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    The aim of this multicentric study was carried out to compare the anatomical structures of temporal bones in patients with unilateral tinnitus in healthy ears. We also aimed at evaluating whether age- and gender-related asymmetrical changes occur in temporal bones or not. Fifty-two ears of 26 patients who had unilateral tinnitus were included into the retrospective study. The patients who had subjective nonpulsatile tinnitus and who previously had temporal computed tomography according to their file records were accepted to the study. Temporal computed tomography. scans and audiometric results of patients were examined retrospectively. Middle ear volume, diameter of internal acoustic meats, and diameter of jugular bulb were evaluated by both anatomist and radiologist, in an interobserver manner. Internal acoustic meats and jugular bulb were found to be larger in the ears that had tinnitus than in the healthy ears; however, there was no statistical significance. The stereological morphometric study of the correlation with sex of temporal bone asymmetry in humans is of importance for both otolaryngologists and anatomists. These results will contribute to data on middle ear volume, internal acoustic Meats, and jugular bulb sizes. (Folia Morphol 2013; 72, 1: 22-28

    Investigation of temporal bone asymmetry in cases with unilateral tinnitus: morphometric and multicentric clinical study

    No full text
    The aim of this multicentric study was carried out to compare the anatomical structures of temporal bones in patients with unilateral tinnitus in healthy ears. We also aimed at evaluating whether age- and gender-related asymmetrical changes occur in temporal bones or not. Fifty-two ears of 26 patients who had unilateral tinnitus were included into the retrospective study. The patients who had subjective nonpulsatile tinnitus and who previously had temporal computed tomography according to their file records were accepted to the study. Temporal computed tomography. scans and audiometric results of patients were examined retrospectively. Middle ear volume, diameter of internal acoustic meats, and diameter of jugular bulb were evaluated by both anatomist and radiologist, in an interobserver manner. Internal acoustic meats and jugular bulb were found to be larger in the ears that had tinnitus than in the healthy ears; however, there was no statistical significance. The stereological morphometric study of the correlation with sex of temporal bone asymmetry in humans is of importance for both otolaryngologists and anatomists. These results will contribute to data on middle ear volume, internal acoustic Meats, and jugular bulb sizes. (Folia Morphol 2013; 72, 1: 22-28
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