Background: The genetic polymorphisms of vitamin D receptor (VDR) have an association with thalassemia development, additionally to the environmental elements that elicited the disorder in the genetically predisposed individuals. As well, VDR functions responsible for the regulation of bone metabolism, such its part in immunity. Aim: The sitting study intended to inspect the association between thalassemia disease and the genetic polymorphisms of VDR among the Iraqi population then compared these findings to other findings of thalassemia patients in other different ethnic populations. Materials and methods: The restriction enzymes Bsm-I and Fok-I were applied to determine the genetic polymorphisms frequencies of VDR by a Polymerase Chain Reaction – Random Fragment Length Polymorphisms (PCR-RFLP) techniques of the targeted parts (rs2228570 and rs1544410) in 70 Iraqi patients suffering from thalassemia (18 males and 52 females) and 75 Iraqi healthy participants as a control group (18 males and 52 females). Also, the comparison between the present findings of VDR genetic polymorphisms in Iraqi thalassemia patients and other previous findings for thalassemia patients in different ethnic populations for the selected VDR Bsm-I and Fok-I sites were done. Results: The present findings manifested a significant difference of VDR Bsm-I and Fok-I genetic polymorphisms frequency (rs2228570 and rs1544410) in the thalassemia patient's group contrasted to the healthy control group. In VDR rs2228570, the AA genotype and A allele frequency were significantly increased in the patients' group contrasted to the healthy control group (44.29 vs. 8.0%, OR: 9.14, 95% CI: 3.53–23.68, p: 4.1 × 10−7; 69.0 vs. 27.0%, OR: 6.02, 95% CI: 3.27–11.06, p: 3.9 × 10−9, respectively). while, the results of VDR genetic polymorphisms rs1544410 manifested that the CC and CT genotyping and C allele frequency were significantly increased among the patient's group contrasted to the healthy control group (28.75 vs. 6.67%, OR: 5.60, 95% CI: 1.98–15.81, p: 7.2 × 10−4; 57.14 vs. 24.0, OR: 4.22, 95% CI: 2.08–8.55, p: 8.1 × 10−5; and 57.0 vs. 19.0%, OR: 6.39, 95% CI: 3.0–10.66, p: 3.9 × 10−9, respectively). Also, it manifested the genetic polymorphisms variance of VDR rs2228570 and rs1544410 between the Iraqi thalassemia patients and other ethnic thalassemia patients. The results showed different variants among the Iraqi thalassemia patients' polymorphisms and other ethnic thalassemia patients' polymorphisms. Conclusions: The present results demonstrated a significant association between the genetic polymorphisms of VDR and thalassemia disease, the AA genotype and A allele frequency was significantly increased among the thalassemia patients' group compared to the controls in VDR Bsm-I polymorphism (rs2228570). While the CC and CT genotypes and C allele frequency were significantly increased among the thalassemia patients' group compared to the controls in VDR Fok-I polymorphism (rs1544410). As well, it indicates the variance of VDR Bsm-I and Fok-I genetic polymorphisms frequencies between the Iraqi thalassemia patients and other thalassemia patients from different ethnic populations.
For many years it was argued that there may be a gender differences in adverse drug reactions (ADRs). This assumption was based on many possible factors such as hormonal or behavior differences, and it was not clearly identified since the female gender was not preferred to be enrolled in many clinical trials. The primary aim of this study was to assess the extent of possibly relevant gender differences in drug–ADRs regarding causality, severity, preventability, seriousness, expectedness and outcome. While the secondary aim was to assess for which group of drugs and for which ADRs gender differences are identified most often. The study was a retrospective one that depends on processing a specially selected group of data obtained from th
... Show MoreRA is a complex chronic disease, primarily affects the lining of the synovial joints and can cause progressive disability, premature death, and socioeconomic burdens. The clinical manifestations of symmetrical joint involvement include arthralgia, swelling, redness, and even limiting the range of motion. The pathogenesis is not known therefore the study included Rheumatoid arthritis (RA) is one of systemic inflammatory diseases that characterized by a progressive disabling course. The study included patients suffering from RA and as healthy controls. immunological and genetic factor were evaluated in each subject by using serum level of cytokine and genetic factor. The etiopathology of the disease is not well known for this reason the study
... Show MoreBackground/Aim: Psoriasis is a persistent systemic disorder characterised by chronic inflammation and linked to multiple comorbidities, including arthritis, cardiometabolic disorders, obesity and hyperlipidaemia. Objective of this study was to identify the relationship of abnormal lipid profiles and psoriasis, as well as to pinpoint factors that correlate with disease severity. Methods: A cross-sectional study was carried out at the dermatology clinic over 6 months from the 1 August 2024 to the 1 February 2025. Patients aged 15 years and above with a diagnosis of psoriasis were enrolled. For each patient two sets of data were collected, demographical characteristics (age, sex, disease duration and the body mass index (BMI)) and the
... Show MoreGrowth hormone deficiency is a condition that occurs when a limited volume of growth hormone is released by the pituitary gland since growth hormone deficiency causes growth delays, short stature, and overall physical development delays. symptoms differ based on the age at which they occur .Aim of this study Estimating the level of growth hormone serotonin ,IGF-1 and Chromogranin A before and after with treatment recombinant growth hormone and It is the first study in Iraq that sheds light on the relationship between Chromogranin and other variables ( somatostatin, IGF-1,GH) ,also the prediction of Chromogranin A as a newly biochemical marker in children with growth hormone deficiency. In this study, 30 samples were collected from children
... Show MoreThe main process, for the elimination of cholesterol from the human body, involves the alteration of cholesterol into bile acid (BA), by the liver. The farnesoid X receptor (FXR), a member of the nuclear receptor superfamily, is essential for the regulation of BA, glucose, and lipid metabolism. It is largely found in the liver, intestines, kidney, and adrenal glands, and to a smaller degree in the heart and adipose tissue. The binding locations, of the FXR, are in close proximity to formerly undisclosed target genes, with distinctive activities associated with transcriptional regulators, autophagy, apoptosis, hypoxia, inflammation, RNA processing, and a number of cellular signaling pathways. The preservation of BA homeostasis, by the FXR, e
... Show MorePituitary adenomas are the anterior pituitary tumors. Patients with an Aryl Hydrocarbon Receptor-Interacting Protein (AIP) mutation (AIP- mut) tend to have more aggressive tumors occurring at a younger age. Single nucleotide polymorphisms (SNPs) in many studies have been related to metabolic comorbidities in the general population. Study aims investigated the role of AIP gene SNPs with susceptibility to acromegaly pituitary- adenoma, with levels of LH, FSH, TSH, Testosterone, IGF1,GH, FT4 , Prolactin hormones and blood sugar levels. The study was conducted on a group of acromegaly patients, including 50 patients) both Genders( with hyperplasia of the ends, and apparently healthy control group. Genotyping of
... Show MoreThis work aimed to estimate the frequency of mitochondrial inborn errors of metabolism (MIEMs) in patients presenting with family history and IEM-picture who referred for advance IEM assay in Mosul province and Kurdistan region. This study was observational study conducted on 364 cases referred from different general /or private pediatric clinics with unexplained sign and symptoms and suspension of mitochondrial dysfunction. The study included 364 children with an age ranging from 1 month to 1 year. Started from January 2018 to January 2020. All patients referred with their full history review, notes about their clinical examination, and laboratory investigations including blood ammonia, serum lactate/ pyruvate, arterial blood gases. In
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