埃及哮喘儿童哮喘治疗效果与基因变异之间的关系

IF 0.5 Q4 PEDIATRICS

Egyptian Pediatric Association Gazette Pub Date : 2024-01-08 DOI:10.1186/s43054-023-00242-2

Hoda H. Ahmed, Tarek M. Farid, Maha M. A. Abo Hashish, Areef R. Ibrahim, Amr M. Mustafa, Aliaa Ahmed Wahby, Mirhane Hassan, Eman Hany Elsebaie, Abeer Ramadan, Sameh Abdelaziz Mansour

{"title":"埃及哮喘儿童哮喘治疗效果与基因变异之间的关系","authors":"Hoda H. Ahmed, Tarek M. Farid, Maha M. A. Abo Hashish, Areef R. Ibrahim, Amr M. Mustafa, Aliaa Ahmed Wahby, Mirhane Hassan, Eman Hany Elsebaie, Abeer Ramadan, Sameh Abdelaziz Mansour","doi":"10.1186/s43054-023-00242-2","DOIUrl":null,"url":null,"abstract":"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. 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. 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). 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.","PeriodicalId":43064,"journal":{"name":"Egyptian Pediatric Association Gazette","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2024-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Relationship between effectiveness of asthma management and genetic variants in asthmatic Egyptian children\",\"authors\":\"Hoda H. Ahmed, Tarek M. Farid, Maha M. A. Abo Hashish, Areef R. Ibrahim, Amr M. Mustafa, Aliaa Ahmed Wahby, Mirhane Hassan, Eman Hany Elsebaie, Abeer Ramadan, Sameh Abdelaziz Mansour\",\"doi\":\"10.1186/s43054-023-00242-2\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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. 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. 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). 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.\",\"PeriodicalId\":43064,\"journal\":{\"name\":\"Egyptian Pediatric Association Gazette\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2024-01-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Egyptian Pediatric Association Gazette\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s43054-023-00242-2\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Egyptian Pediatric Association Gazette","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s43054-023-00242-2","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}

引用次数: 0

摘要

个性化哮喘医学研究发现了 ADRB2 和 ADH5 等影响疾病和治疗效果的关键基因，因此有必要深入探讨这些基因对埃及儿童哮喘患病率和管理的影响。本研究旨在研究埃及儿童哮喘控制与特定基因变异之间的关系，重点关注四个关键基因中的四个重要 SNP。2020 年 12 月至 2021 年 5 月期间，在爱资哈尔大学的两家附属医院开展了一项横断面遗传学研究，以评估青少年哮喘患者的基因多态性。研究人员采集了参与者的血液样本，其中一部分用于提取 DNA 和测量血清水平。然后使用实时 PCR 技术对提取的 DNA 进行基因分型，并根据其荧光特征确定特定的基因型。共有 93 名受试者参加了这项研究。病例（哮喘儿童）的体重指数明显高于对照组（健康儿童）（33.65 ± 3.88 vs. 21.10 ± 3.48，p < 0.001）。在居住地方面也有明显差异，30.6%的病例来自城市地区，而对照组的这一比例为 85.7%（P < 0.001）。与对照组相比，病例中家族性哮喘病史（86.1% vs. 0.0%，p < 0.001）、过敏症（95.8% vs. 0.0%，p < 0.001）、食物过敏（80.6% vs. 9.5%，p < 0.001）和动物接触（79.2% vs. 14.3%，p < 0.001）的发生率明显更高。在 10.0% 的对照组中发现了遗传标记 rs4795399 的 CC 等位基因，但在所有病例中均未发现（p = 0.024），rs7927044 的 AA 等位基因在受控哮喘患者中的常见程度明显高于未受控者（p = 0.030）。所研究的基因变异与哮喘严重程度无明显关联；然而，未受控制的哮喘患者与 rs7927044 的 GG 和 AG 等位基因的多态性明显较高有关。此外，在 rs4795399 TT 等位基因的多态性方面，哮喘患者与健康人之间存在显著差异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

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

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. 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. 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). 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.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Egyptian Pediatric Association Gazette PEDIATRICS-

自引率

0.00%

发文量

审稿时长

9 weeks

期刊介绍： The Gazette is the official journal of the Egyptian Pediatric Association. The main purpose of the Gazette is to provide a place for the publication of high-quality papers documenting recent advances and new developments in both pediatrics and pediatric surgery in clinical and experimental settings. An equally important purpose of the Gazette is to publish local and regional issues related to children and child care. The Gazette welcomes original papers, review articles, case reports and short communications as well as short technical reports. Papers submitted to the Gazette are peer-reviewed by a large review board. The Gazette also offers CME quizzes, credits for which can be claimed from either the EPA website or the EPA headquarters. Fields of interest: all aspects of pediatrics, pediatric surgery, child health and child care. The Gazette complies with the Uniform Requirements for Manuscripts submitted to biomedical journals as recommended by the International Committee of Medical Journal Editors (ICMJE).