High risk association of IL-4 VNTR polymorphism with asthma in a North Indian population

• The role of IL-4 VNTR polymorphism in a North Indian population with asthma was evaluated for the first time.
• Significant risk association was observed between the polymorphism and asthma.
• Most of the phenotypic traits of asthma were associated with the polymorphism.

BackgroundA case-control study was conducted to evaluate the role of IL-4 VNTR polymorphism in asthma that has been associated with various inflammatory diseases worldwide. This is the first case-control study conducted in India, investigating the role of IL-4 VNTR polymorphism in asthma pathogenesis.MethodsA case-control study was performed with a total of 824 adult subjects, inducting 410 asthma patients and 414 healthy controls from North India. The genotypes were identified by polymerase chain reaction.ResultsStatistical analysis for the IL-4 VNTR polymorphism revealed that the Rp1 allele was significantly associated with asthma with OR = 1.47, 95% CI (1.11–1.94) and p = 0.005. The Rp1/Rp1 homozygous mutant genotype posed a high risk towards asthma with OR = 2.39, 95% CI (0.96–6.14) and p = 0.040. The Rp2/Rp1 heterozygous genotype also posed a risk towards asthma with OR = 1.39, 95% CI (1.00–1.94) and p = 0.040. Most of the phenotypic traits were significantly associated with the disease.ConclusionsIL-4 VNTR polymorphism is a high risk factor for asthma in the studied North Indian population.