Abstract

This case control study investigated the intestinal microbiota profile of patients with Peutz-Jeghers syndrome (PJS) and its association with polyp growth. 32 PJS patients (P group) and 35 healthy controls (H group) were enrolled. Clinical data of all patients including age, sex, number and size of polyps were recorded. Fecal samples of all participants were collected for gut microbiota analysis via 16s rRNA gene (regions V3-V4) sequencing. SPSS (ver. 22.0) and R software (ver. 3.1.0) were applied for the statistical analysis. The richness was comparable, while the overall structure of the gut microbiota differed significantly between the PJS and control group (weighted UniFrac, P=0.001; unweighted UniFrac, P=0.008). Significantly different abundance of 2 phyla, 7 families, and 18 genera were observed between 2 groups. 29 differentially enriched functional modules between 2 groups (FDR, P<0.05) were indentified. Morganella was positively associated with JPN (r=0.96, P< 0.001) and JPNG (r=0.78, P=0.04). Desulfovibrio was positively associated with JPNG (r = 0.87, P=0.01). Blautia was negatively associated with JPS (r= -0.85, P=0.02). Anaerostipes was negatively associated with JPN (r = -0.77, P<0.04), JPNG (r= -0.88, P<0.001) and JPS (r= -0.47, P< 0.04). Clostridium XVIII and Fusicatenibacter were negatively associated with JPN (r= -0.53, P=0.002) and JPS (r = -0.50, P=0.002) respectively. This study found remarkable differences in the gut microbiota of patients with PJS relative to healthy individuals, and associations between specific fecal bacteria and PJS clinical features. These findings may provide a new perspective for clinical practice.

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