Deka Himamoni, Siddique Mir A, Ahmed Sultana J, Mahanta Pranabika, Mahanta Putul
Anatomy, Gauhati Medical College, Guwahati, IND.
Ophthalmology, Gauhati Medical College, Guwahati, IND.
Cureus. 2024 Apr 2;16(4):e57465. doi: 10.7759/cureus.57465. eCollection 2024 Apr.
Asthma is a common, chronic, atopic respiratory disease that is on the rise among children and adults worldwide. Various environmental, genetic, and biological interactions contribute to the surge in susceptibility to this disease. Interleukin (IL) genes, particularly IL-4 and IL-13, have been linked to asthma pathogenesis. The present study aims to investigate the genetic aberrations, specifically single nucleotide polymorphisms (SNPs) of IL-4 and IL-13, and their association with childhood asthma and its severity.
An unmatched hospital-based case-control study was conducted in a tertiary care hospital in Assam, India. The sample size was calculated to be 120 (60 cases and 60 controls) using the Epi Info software version 7.2 (Centers for Disease Control and Prevention, Atlanta, GA, USA), assuming a confidence interval of 95%, a power of the study at 80%, a ratio of control to cases as 1, a proportion of controls with exposure at 22%, and a proportion of cases with exposure at 46%. A total of 53 clinically diagnosed cases of childhood asthma in the age range of three to 12 years and 39 healthy controls free from respiratory diseases and having no history of asthma and/or allergy of the same age group attending a tertiary care hospital were included in the study. Children who never had asthma or allergies and who did not suffer from any upper or lower respiratory infections for the previous four weeks were considered controls. Prior informed consent and ethical clearance were obtained. Very seriously ill cases and controls were excluded from the study. The genetic investigation used polymerase chain reaction (PCR), followed by restriction fragment length polymorphism (RFLP), to discover SNPs in the IL-4 and IL-13 genes. Sequencing analysis was done for the cases with +2044 G>A of the IL-13 gene in relation to the severity of the disease. The difference in the proportions of specific SNPs between cases and controls was analyzed using the χ2test (a p-value of <0.05 was considered significant).
Both the rs2070874 and rs2243250 polymorphisms of IL-4 showed no statistically significant associations. The mutation of the IL-13 gene in 1111C>T was higher among cases than controls. Both genotypic and allelic distributions of the +2044G>A polymorphism of the IL-13 gene revealed a significant association (p<0.05) with the severity of the disease.
Genetic aberrations in SNPs of IL-4 and IL-13 are prevalent among the pediatric patients of the study region. The SNP +2044G>A of IL-13 is instrumental in disease manifestation and severity among the pediatric population of the study region.
哮喘是一种常见的慢性特应性呼吸道疾病，在全球儿童和成人中呈上升趋势。多种环境、遗传和生物相互作用导致了对该疾病易感性的激增。白细胞介素（IL）基因，特别是IL-4和IL-13，与哮喘发病机制有关。本研究旨在调查基因畸变，特别是IL-4和IL-13的单核苷酸多态性（SNP），及其与儿童哮喘及其严重程度的关联。
在印度阿萨姆邦的一家三级护理医院进行了一项非匹配的基于医院的病例对照研究。使用Epi Info软件7.2版（美国佐治亚州亚特兰大疾病控制与预防中心）计算样本量为120（60例病例和60例对照），假设置信区间为95%，研究效能为80%，对照与病例之比为1，对照中暴露比例为22%，病例中暴露比例为46%。该研究纳入了53例年龄在3至12岁之间临床诊断为儿童哮喘的病例，以及39名来自同一年龄组、无呼吸道疾病且无哮喘和/或过敏史的健康对照。过去四周内从未患过哮喘或过敏且未患任何上呼吸道或下呼吸道感染的儿童被视为对照。获得了事先的知情同意和伦理批准。病情非常严重的病例和对照被排除在研究之外。基因检测采用聚合酶链反应（PCR），随后进行限制性片段长度多态性（RFLP）分析，以发现IL-4和IL-13基因中的SNP。对IL-13基因+2044 G>A的病例进行测序分析，以了解疾病严重程度。使用χ2检验分析病例和对照之间特定SNP比例的差异（p值<0.05被认为具有统计学意义）。
IL-4的rs2070874和rs2243250多态性均未显示出统计学上的显著关联。病例中IL-13基因1111C>T的突变高于对照。IL-13基因+2044G>A多态性的基因型和等位基因分布均显示与疾病严重程度存在显著关联（p<0.05）。
IL-4和IL-13的SNP中的基因畸变在研究区域的儿科患者中普遍存在。IL-13的SNP +2044G>A对研究区域儿科人群中的疾病表现和严重程度有影响。
