IL1A, interleukin 1 alpha, 3552

N. diseases: 1002; N. variants: 19
Disease: Fabry Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.010 GeneticVariation disease BEFREE The majority of patients with Fabry disease have therefore a profile of low TNF-alpha (increased frequency of GG genotype of the TNF-alpha[-308] polymorphism), high IL-10 production (preponderance of the C allele of the wild type or heterozygous state for the polymorphisms of IL-10 [819; -592], but simultaneously increased production of the pro-inflammatory cytokines IL-1beta and IL-1alpha usually associated with a preponderance of the C allele of the wild type or heterozygous state for the polymorphisms of IL-1beta [3954; -511] and of IL-1 alpha[-889]. 17353161 2006