Molecular Immunogenetics Laboratory and Center of Excellence for Translational Research in Asthma and Lung Disease, CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
Int Arch Allergy Immunol. 2012;159(3):271-7. doi: 10.1159/000336675. Epub 2012 Jun 21.
Atopic asthma, the most common chronic disease affecting children and young adults, is a complex disorder with variable phenotypes. Cysteine leukotrienes (Cys-LTs) are powerful bronchoconstrictors and play a critical role in airway inflammation and remodeling that are characteristic of asthma.
To investigate the association of ALOX5, LTC4S and CysLTR2 gene polymorphisms with atopic asthma in an Indian population.
A total of 19 single nucleotide polymorphisms (SNPs) within these genes were genotyped in a family-based cohort (n = 239) and a case-control cohort (139 cases and 194 controls) followed by association analyses.
We found a significant association of the -1072G/A (rs3776944) SNP with atopic asthma in the family-based association analysis (p = 0.0004). These results were also replicated in the case-control cohort (p = 0.009). The allele A was negatively associated with atopic asthma. We also noted a significant association in the two-locus (rs3776944G/A and rs730012A/C) haplotypic analysis of this gene both in the family-based (p = 0.03) and the case-control (p = 0.02) analyses.
This study supports the role of the LTC4S gene polymorphism in genetic susceptibility to atopic asthma in an Indian population.
特应性哮喘是最常见的影响儿童和青年的慢性疾病，是一种具有多种表型的复杂疾病。半胱氨酸白三烯（Cys-LTs）是强有力的支气管收缩剂，在气道炎症和重塑中起关键作用，这是哮喘的特征。
研究 ALOX5、LTC4S 和 CysLTR2 基因多态性与印度人群特应性哮喘的关系。
在基于家庭的队列（n=239）和病例对照队列（139 例病例和 194 例对照）中，对这些基因内的 19 个单核苷酸多态性（SNP）进行了基因分型，并进行了关联分析。
我们发现-1072G/A（rs3776944）SNP 与基于家庭的关联分析中的特应性哮喘显著相关（p=0.0004）。这些结果在病例对照队列中也得到了复制（p=0.009）。等位基因 A 与特应性哮喘呈负相关。我们还注意到，在该基因的双基因座（rs3776944G/A 和 rs730012A/C）单体型分析中，无论是在基于家庭的分析（p=0.03）还是病例对照分析（p=0.02）中，都存在显著的关联。
本研究支持 LTC4S 基因多态性在印度人群特应性哮喘遗传易感性中的作用。
