Association between IL-4 genotype and IL-4 production in the Japanese population

Abstract

We have identified that there are only two IL-4 gene haplotypes (I and II)

Sex specifically associated promoter polymorphism in multiple sclerosis affects interleukin 4 expression levels

“…These data comply with earlier findings of association between increased IL4 production and a certain promoter/exon haplotype in Japanese patients. 28 The À589 C/T variation itself-and not flanking sequence variations-has functional relevance in the transcriptional regulation of IL4 expression in Th2 lineage cells. Dependent on the immunological situation, the À589 C/T variation may contribute to susceptibility for several autoimmune diseases by varying IL4 expression levels and hence modulation of the anti-inflammatory downregulation.…”

Genetic Factors Involved in the Genesis of Helicobacter Pylori-Induced Gastric Cancer

“…IL-4 C-33T on chromosome 5q31.1 was reported to be functional; IL-4 protein production was higher in -33TT genotype than in -33CC genotype (Nakashima et al, 2002). Our dataset showed no association with H. pylori seropositivity in Japanese (Togawa et al, 2005).…”

Genomic analysis of Th1–Th2 cytokine genes in an AIDS cohort: identification of IL4 and IL10 haplotypes associated with the disease progression

“…4,27 The T allele of IL4_549 was shown to be associated with higher production of this cytokine in the Japanese population. 21 For the other promoter polymorphisms, the degree of evolutionary conservation was higher than in the intron between mouse and human; however, computer searches failed to localize any to motifs that were recognized as related to transcription. These polymorphisms are candidates for experimental evaluation to elucidate their biological significance.…”

“…Although to date, most genetic studies in AIDS have focused on the chemokine/chemokine receptor system and HLA, 16,17 promoter polymorphisms in a limited number of Th1-Th2 cytokine genes have been examined for association with the disease, [18][19][20] some of which have been correlated to the level of production of cytokine. 21 In particular, IL10 and IL4 variants have been reported to be associated with disease progression to AIDS. 18,19 These studies underscore the possible involvement of Th1-Th2 cytokines in the development of the disease, and the interest of a complete and systematic exploration of these other Th1-Th2 cytokine genes in AIDS.…”