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.
KE Sharquie, AA Noaimi, MS Younis, BS Al-Sultani, Journal of Cosmetics, Dermatological Sciences and Applications, 2014 - Cited by 5
Pituitary 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 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 MoreAbstract: Lymphoproliferative Disorders (LPDs) are a group of neoplasms affecting various cells within lymphoid system. Each type has different treatment a..70619
This 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
... Show MoreAxial spondyloarthritis (axSpA) is a chronic rheumatic inflammatory disease affecting mainly the spine and sacroiliac joints. Since the copper-to-zinc ratio (Cu/Zn) indicates an inflammatory response, the change in ratio is expected to correlate with axSpA. This study compared levels of Cu/Zn in the serum of axSpA patients. Serum samples were obtained from 53 patients with axSpA divided according to biological treatment into cohorts A and B, and 28 healthy control as cohort C. Serum levels of Cu and Zn were determined first by a fully automated chemistry analyzer TC-Matrix Plus, then the ratio was obtained. The elevated serum Cu concentration means of cohort B (189.32 ± 13.808 µg/dL) compared to cohort A (168.85 ± 7.244 µg/dL) a
... Show MoreBackground: Consanguineous marriage is a relationship between biologically related individuals. Genetic factors have a role in gene environment interactions that takes the center stage. The evidence of oral disease (gingivitis and periodontitis) may depend on genetic syndromes, inherited diseases, familial studies etc. The present study aims at assessing dental plaque and gingival health condition in children of inbreeding parents compared with children of outbreeding parents among primary schools in Al-Qasem city/ Babylon governorate in Iraq. Materials and methods: this comparative study included three hundred ninety eight (398) students, 6-12 years old, from 4 primary schools; 199 children had their parents of inbreeding marriage with
... Show MoreA literary text is not void of the use of the ego and the other while speaking or in a spoken communication. Such a usage is apparently outstanding in Arabic literature, and it reflects society in all its various cultural, social and political conditions. Therefore, the ego is one of the prominent concepts on which human personality is built, and its role in the formation of society and in communicating among all human societies. Accordingly, the present paper aims to clarify the duality of the ego and the other, where the ego starts from the poet himself to expand the circle of subjectivity by including his family, society, immediate surroundings, race and his religion. The other, on the other hand, that is separated from the poet,
... Show MoreThe present study aims at assessing the effects of chronic kidney disease (CKD) on thyroid hormone and leptin by evaluating the level of: leptin hormone along with thyroid hormone in CKD patients. The study has been conducted on 70 subjects, 50 patients with an age range between 20-50 years (25 males and 25 females) who were diagnosed to have CKD stage-5, and 20 normal controls whose ages ranged between 20-48 years (10 males and 10 females), who attended the Nephrology and Transplant Center in Medical City of Baghdad- Iraq from April 2018 to July 2018. The study showed a highly significant (P<0.01) increase in TSH level in CKD patients in comparison with controls. While T3 and T4 levels observed highly significant decrea
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