Haplotypes of butyrylcholinesterase K-variant and their influence on the enzyme activity

We present three haplotypes of BChE-K variant, two of them coexist in strong linkage disequilibrium with alterations in 5′UTR (rs1126680), intron 2 (rs55781031) or in exon 2 (rs1799807). We demonstrate a negative role of these alterations on enzyme activity. By oneself BCHE-K (with no other alterations in BCHE gene) haplotype exhibits wild type enzyme activity.Based on our previous and presented results we conclude that SNPs localized outside the coding sequence, in 5′UTR or/and in intron 2 of BCHE gene, but not solely in K-variant alteration (p.A539T) itself, are responsible for reduced enzyme activity.
Source: Chemico Biological Interactions - Category: Biochemistry Source Type: research