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1.
Biochem Genet ; 2024 Mar 24.
Article in English | MEDLINE | ID: mdl-38522064

ABSTRACT

Oxidative stress is a sophisticated situation that orignates from the accumulation of reactive free radicals within cellular compartments. The antioxidant mechanism of the MnSOD enzyme facilitates the removal of these lethal oxygen species from cellular components. The main goal of this pertained work is to study the contribution of the SOD2 (rs4880; p.Val16Ala) variant to the development of bronchial asthma among children. The study's design was carried out based on a total of 254 participants including 127 asthmatic children (91 atopic and 36 non-atopic) along with 127 unrelated healthy controls. Allelic discrimination analysis was executed using the T-ARMS-PCR protocol. This potential variant conferred a significant association with decreased risk of bronchial asthmatic children under allelic (OR = 0.56, P-value = 0.002), recessive (OR = 0.32, P-value = 0.011), and dominant (OR = 0.51, P-value = 0.040) models. Additionally, atopic and non-atopic asthmatic children indicated a protection against bronchial asthma development under allelic, and dominant models (p-value < 0.05). Our findings suggested that the SOD2*rs4880 variant was correlated with decreased risk of childhood bronchial asthma.

2.
Mol Biol Rep ; 50(3): 2015-2024, 2023 Mar.
Article in English | MEDLINE | ID: mdl-36534235

ABSTRACT

BACKGROUND: The prevalence rate of breast carcinoma (BC) among multiple ethnic populations required more explanations to understand the pathogenesis mechanisms for the development of this type of cancer. The principal purpose of this work is to validate the correlation of the CCND1 (c.723G > A; rs9344) variant with an increased risk of breast carcinoma. METHODS: This retrospective case-controlled study was designed appertaining to 200 women including 100 BC patients and 100 unrelated cancer-free controls. The amplification of genomic DNA was genotyped utilizing the PCR-RFLP technique. RESULTS: The frequencies of the CCND1 (c.723G > A; rs9344) variant revealed a significant association with increased risk of breast carcinoma under different genetic models including allelic (OR = 2.84, P-value < 0.001), recessive (OR = 4.83, P-value < 0.001), and dominant (OR = 3.19, P-value < 0.001) models. CONCLUSIONS: Our findings concluded that the genetic biomarker of the CCND1 (c.723G > A; rs9344) variant is correlated with an elevated risk of breast carcinoma among Egyptian women.


Subject(s)
Breast Neoplasms , Polymorphism, Single Nucleotide , Female , Humans , Breast Neoplasms/epidemiology , Breast Neoplasms/genetics , Case-Control Studies , Cyclin D1/genetics , Genetic Predisposition to Disease , Genotype , Polymorphism, Single Nucleotide/genetics , Retrospective Studies
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