Reply to “Does the HSD17B13 rs72613567 splice variant actually yield a new type of alternative splicing”

: We appreciate Dr. Galmozzi's interest in our study and his insightful comments. Briefly, we recently discovered single nucleotide polymorphisms (SNPs), in or near the 17-beta hydroxysteroid dehydrogenase 13 (HSD17B13) gene, that associate with histological features of nonalcoholic fatty liver disease (NAFLD). Mechanistically, we found an association of rs72613567 with the presence of two novel splicing variants (G-insertion and Delta-6), which cause loss-of-function (1). Galmozzi is concerned that a G-nucleotide insertion as a consequence of a 5'-splice site SNP is yet to be reported, highlighting the novelty of our report. He raises technical concerns regarding the validity of this finding which we are happy to address.