biostudies-literatureKelleher SLChildrens’ Miracle NetworkDavid I Nahrwold Endowment in teh Department of Surgerythe Childrens’ Miracle NetworkJapan Society for the Promotion of Sciencethe Gerber Foundation2014739https://www.ebi.ac.uk/biostudies/studies/S-EPMC8726655biostudies-literatureUnknown14(1)Loss of Paneth cell (PC) function is implicated in intestinal dysbiosis, mucosal inflammation, and numerous intestinal disorders, including necrotizing enterocolitis (NEC). Studies in mouse models show that zinc transporter ZnT2 (<i>SLC30A2</i>) is critical for PC function, playing a role in granule formation, secretion, and antimicrobial activity; however, no studies have investigated whether loss of ZnT2 function is associated with dysbiosis, mucosal inflammation, or intestinal dysfunction in humans. <i>SLC30A2</i> was sequenced in healthy preterm infants (26-37 wks; n = 75), and structural analysis and functional assays determined the impact of mutations. In human stool samples, 16S rRNA sequencing and RNAseq of bacterial and human transcripts were performed. Three ZnT2 variants were coGut microbesLoss-of-function <i>SLC30A2</i> mutants are associated with gut dysbiosis and alterations in intestinal gene expression in preterm infants.PMC87266551845-3885Alam SWagatsuma TBarber-Zucker SZarivach RKelleher SLKambe TSoybel DILamendella RWright JRivera OCfalseLoss-of-function <i>SLC30A2</i> mutants are associated with gut dysbiosis and alterations in intestinal gene expression in preterm infants.Loss of Paneth cell (PC) function is implicated in intestinal dysbiosis, mucosal inflammation, and numerous intestinal disorders, including necrotizing enterocolitis (NEC). Studies in mouse models show that zinc transporter ZnT2 (<i>SLC30A2</i>) is critical for PC function, playing a role in granule formation, secretion, and antimicrobial activity; however, no studies have investigated whether loss of ZnT2 function is associated with dysbiosis, mucosal inflammation, or intestinal dysfunction in humans. <i>SLC30A2</i> was sequenced in healthy preterm infants (26-37 wks; n = 75), and structural analysis and functional assays determined the impact of mutations. In human stool samples, 16S rRNA sequencing and RNAseq of bacterial and human transcripts were performed. Three ZnT2 variants were co2022-01-01T00:00:00Z2022 Jan-Dec2026-04-08T14:20:15.727Z2022-02-11T14:54:32.552ZS-EPMC87266553496518010.1080/19490976.2021.2014739