Single Nucleotide Polymorphism in the Promoter of the Human Interleukin-13 Gene Is Associated with Asthma in Malaysian Adults

Abstract

Asthma susceptibility genes are mapped to a region on human chromosome 5q31-q33, which contains a cluster of proinflammatory cytokine genes such as interleukin-13 (IL-13), which is associated with asthma. This study investigated the allele frequencies of two single nucleotide polymorphisms (SNPs) (−1111C>T and 4257C>A) in the IL-13 gene between asthmatics and healthy volunteers as well as the relationship between these SNPs and IL-13 production. DNA extracted from buffy coat of asthmatic and control subjects was genotyped using the PCR-RFLP method. Amount of IL-13 produced by mitogen-stimulated peripheral blood leucocytes PBLs (PBLs) was determined by ELISA. The frequencies of the −1111C and 4257G wild-type alleles were 0.52 and 0.55 in asthmatics and were 0.67 and 0.56 in controls. A significant (P < 0.05) association was found between genotype and allele frequencies of SNP at position −1111C>T between asthmatic and control groups (OR, 1.810; 95% CI = 1.184 to 2.767; P < 0.05). The mitogen-stimulated PBLs from asthmatics produced higher amounts of IL-13 production (P < 0.001). The 4257GA heterozygous and 4257AA homozygous mutant alleles were associated with higher IL-13 production in asthmatics (P < 0.05). Our results show that the −1111T mutant allele are associated with asthma and the 4257A mutant alleles are associated with elevated IL-13 production.

Association of three SNPs in the PARP-1 gene with Hashimoto’s thyroiditis

“… 45 In addition, the 4257GA heterozygous genotype was found to be associated with higher IL-13 levels in asthmatics. 46 A relationship between the heterozygous -137 G/C genotype in the IL-18 gene with elevated IL-18 serum levels and bladder cancer risk was detected in a North Indian population. 47 Moreover, the T cells from heterozygous TC-carrier rheumatoid arthritis patients produced higher TNF-α, IL-17, and interferon-γ when compared with patients carrying the non-TC haplotype.…”

The Association Study of Calmodulin 1 Gene Polymorphisms with Susceptibility to Adolescent Idiopathic Scoliosis

“…Noncoding SNPs are distributed at intron, 5′ untranslating region (UTR), 3′-UTR, and other noncoding regions [ 25 ]. SNPs located at 5′-UTR may participate in the process of transcription and translation of the regulatory gene [ 26 ], SNPs located at 3′-UTR could affect mRNA stability and translation procession [ 27 ], and SNPs located at intron may influence the process of pre-mRNA splicing [ 28 ]. SNPs located at these regions may induce quantitative and qualitative alterations in protein expression and thus correlates with some diseases, which are often referred to as functional polymorphism [ 9 ].…”

Role of IL13 genetic polymorphism in the development of bronchial asthma in children

“…изучали влияние полиморфизма rs1800925 на риск развития БА у взрослого населения Малайзии. Оказалось, что процент минорного аллеля Т* в группе больных превышает процент того же аллеля в [12]. Эти и другие исследования подтверждают тот факт, что аллель Т* полиморфизма rs1800925 является аллелем, ассоциированным с риском развития бронхиальной астмы у детей и взрослых в различных популяциях мира.…”