Relationship between effectiveness of asthma management and genetic variants in asthmatic Egyptian children

Springer Science and Business Media LLC
Hoda H. Ahmed1, T. Farid1, Adel F. Hashish1, A Ibrahim2, Adnan Mustafa2, Aliaa Ahmed Wahby3, Mirhane Hassan3, Eman Elsebaie4, Abeer Ramadan5, Sameh Abdelaziz Mansour6
1Pediatric Department, Medical Research and Clinical Studies Institute, NRC, Cairo, Egypt
2Pediatric Department, Faculty of Medicine, Cairo University, Cairo, Egypt
3Clinical Pathology Department, Clinical Pathology Department, NRC, Cairo, Egypt
4Public Health and Community Medicine Department, Faculty of Medicine, Cairo University, Cairo, Egypt
5Molecular Genetics and Enzymology Department, NRC, Cairo, Egypt
6Pediatric Department, Alazhar University, Cairo, Egypt

Tóm tắt

Abstract Background Personalized asthma medicine research identifies critical genes like ADRB2 and ADH5 that affect disease and treatment outcomes, necessitating a deeper exploration of these genetic influences on asthma prevalence and management in Egyptian children. This study aimed to examine the relationship between asthma control and specific genetic variants in Egyptian children, focusing on four significant SNPs within four key genes. Methods A cross-sectional genetic study was conducted between December 2020 and May 2021 at two hospitals affiliated with Al-Azhar University to assess gene polymorphisms in adolescent asthmatic patients. Blood samples were taken from participants, with portions dedicated to DNA extraction and serum level measurements. The extracted DNA was then genotyped using the real-time PCR technique, and specific genotypes were identified based on their fluorescence characteristics. Results A total of 93 subjects were enrolled in the study. Cases (asthmatic children) had a significantly higher BMI than controls—healthy children—(33.65 ± 3.88 vs. 21.10 ± 3.48, p < 0.001). A notable distinction was observed in residence, with 30.6% of cases from urban areas versus 85.7% in controls (p < 0.001). Cases had a markedly higher incidence of familial asthma history (86.1% vs. 0.0%, p < 0.001), atopy (95.8% vs. 0.0%, p < 0.001), food allergies (80.6% vs. 9.5%, p < 0.001), and animal contact (79.2% vs. 14.3%, p < 0.001) compared to controls. The genetic marker rs4795399's CC allele was found in 10.0% of controls but not in any cases (p = 0.024), and the AA allele of rs7927044 was significantly more common in controlled asthmatics than in uncontrolled ones (p = 0.030). Conclusion The studied genetic variants were not significantly associated with asthma severity; however, patients with uncontrolled asthma were associated with significantly higher polymorphism of GG and AG alleles of rs7927044. Additionally, there was a significant difference between the asthmatic patients and healthy individuals in terms of the polymorphism of the rs4795399 TT allele.

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