Association of vitamin D receptor gene polymorphisms in North Indian children with asthma: a case-control study.

International journal of molecular epidemiology and genetics Pub Date : 2021-04-15 eCollection Date: 2021-01-01
Nidhi Awasthi, Shally Awasthi, Shivani Pandey, Sarika Gupta
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Abstract

Asthma is a complex genetic disease. Vitamin D and vitamin D receptor (VDR) gene polymorphisms are involved in asthma pathogenesis. However, accurate inflammatory mechanisms and their role in VDR gene polymorphisms are unclear. The objective of this study was to investigate the association of VDR gene polymorphisms, ApaI, FokI, TaqI, and BsmI with asthma as compared to controls. Children (age 5-15 years) with a history of respiratory symptoms (wheeze, shortness of breath and chest tightness) were recruited as cases. Age matched children admitted with central nervous system disorders (encephalitis/seizures) without any respiratory complaints were recruited as controls after parental consent. Children with a clinical diagnosis of cystic fibrosis, congenital heart disease and whose parents did not consent for participation in the study were excluded. VDR gene polymorphisms were genotyped using PCR-RFLP method. One hundred and sixty asthmatics and one hundred controls were enrolled in this study. Mean age of the cases was 103.29±32.7 months and controls 94.24±30.52 months. Children with heterozygous (AC) genotype [OR=1.83, 95% CI=1.01-3.32, p=0.046] of ApaI polymorphism were found to be associated with the risk of asthma. Our findings suggest that ApaI polymorphism of VDR gene may contribute to asthma susceptibility among children.

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北印度哮喘儿童维生素D受体基因多态性的相关性:一项病例对照研究。
哮喘是一种复杂的遗传疾病。维生素D和维生素D受体(VDR)基因多态性与哮喘发病有关。然而,准确的炎症机制及其在VDR基因多态性中的作用尚不清楚。本研究的目的是研究与对照组相比,VDR基因多态性、ApaI、FokI、TaqI和BsmI与哮喘的关系。有呼吸系统症状(喘息、呼吸短促和胸闷)病史的儿童(5-15岁)被招募为病例。经父母同意后,招募年龄匹配的无任何呼吸系统疾病的中枢神经系统疾病(脑炎/癫痫发作)儿童作为对照组。临床诊断为囊性纤维化、先天性心脏病且父母不同意参与研究的儿童被排除在外。采用PCR-RFLP方法对VDR基因多态性进行基因分型。160名哮喘患者和100名对照者参加了这项研究。患者平均年龄103.29±32.7个月,对照组平均年龄94.24±30.52个月。ApaI基因多态性为杂合型(AC)的儿童[OR=1.83, 95% CI=1.01-3.32, p=0.046]与哮喘发病风险相关。本研究提示,VDR基因ApaI多态性可能与儿童哮喘易感性有关。
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