Genomic comparison of carbapenem-resistant Enterobacteriaceae from humans and gulls in Alaska.

OBJECTIVES: Wildlife may harbour clinically important antimicrobial-resistant bacteria, but the role of wildlife in the epidemiology of antimicrobial-resistant bacterial infections in humans is largely unknown. In this study, we aimed to assess dissemination of the blaKPC carbapenemase gene among humans and gulls in Alaska. METHODS: We performed whole-genome sequencing to determine the genetic context of blaKPC in bacterial isolates from all four human carbapenemase-producing Enterobacteriaceae (CPE) infections reported in Alaska between 2013-2018 and to compare the sequences with seven previously reported CPE isolates from gull faeces within the same region and time period. RESULTS: Genomic analysis of CPE isolates suggested independent acquisition events among humans with no evidence for direct transmission of blaKPC between people and gulls. However, some isolates shared conserved genetic elements surrounding blaKPC, suggesting possible exchange between species. CONCLUSION: Our results highlight the genomic plasticity associated with blaKPC and demonstrate that sampling of wildlife may be useful for identifying clinically relevant antimicrobial resistance not observed through local passive surveillance in humans.

Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12-13 and evidence for genetic heterogeneity.

Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease with significant morbidity and mortality, characterized by remarkable clinical variability with unknown etiology. Genetic contribution to the development of SLE is well established. Recently, we found evidence (P<0.004) of linkage at 16p13 and 16q12-13 in a genome scan based on 37 Hispanic families. The main objective of this study is to replicate and confirm the linkage at these two genomic locations in two large independent replication data sets designated as, group-1 and group-2, consisting of 172 and 120 multiplex SLE families, respectively. We have found a significant evidence of linkage with high heterogeneity (HLOD=4.85, alpha=35%) at 16q12-13 in group-2. Other independent research groups also reported the SLE susceptibility at or close to 16q12-13 previously. Therefore, independent published reports, together with our initial linkage with Hispanics and followed by significant evidence from group-2, provide a strong and confirmed evidence for an SLE susceptibility locus at 16q12-13.