SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease.

The goal of a new study published in the Liver International was to examine single nucleotide polymorphisms (SNPs) located on the SERPINA1 and MAN1B1 genes. This genotype-phenotype correlation study, performed on 92 ZZ alpha-1 anti-trypsin deficiency (A1ATD) children, aimed to determine whether SERPINA1 and MAN1B1 polymorphisms may be implied in the onset of portal hypertension (PHT). From the results, two genetic associations (one SNP for SERPINA1 and another for MAN1B1) with severe liver disease, that had been suspected previously, could not be confirmed in this cohort. Moreover, the haplotype analysis identified only one major genetic background for the SERPINA1 Z-allele. Thus, the presence of a frequent modifier SNP within, could be excluded. While, for MAN1B1, four major haplotypes were identified but the prevalence of PHT did not significantly vary between them. Hence, it was concluded that genetic polymorphisms on these two genes probably do not influence the onset of severe liver disease in A1ATD.1

1. Joly P, Lachaux A, Ruiz M et al. SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha 1-Antitrypsin deficiency children. Liver International. 2017. doi:10.1111/liv.13586.