Endocrine Abstracts

Kidney stone disease (KSD) is a recurrent condition with limited prophylactic therapies. This study aimed to use Mendelian randomisation (MR) and colocalization analyses to identify novel drug targets for KSD. Utilising UK Biobank genome-wide association study data for MR, we identified forty-nine 1Mbp regions where genetic loci increase risk of KSD via effects on albumin-adjusted serum calcium or phosphate concentrations. Multi-trait statistical colocalization analyses identi...

Diacylglycerol kinase delta (DGKD) has been implicated in calcium homeostasis and nephrolithiasis by genome-wide association studies. We have previously demonstrated that alterations in expression of DGKD cause biased calcium-sensing receptor (CaSR) signalling in vitro. To further elucidate the physiological role of DGKD we examined the biochemical phenotype of a Dgkd-haploinsufficient (+/-) mutant mouse developed by the International Mouse Phenotyping Consor...

Introduction: The pathogenesis of kidney stone disease (KSD) is poorly understood and has been linked to features of metabolic syndrome (MetS). Using conventional and genetic epidemiological analyses we studied associations of MetS phenotypes with risk of KSD.Methods: Multivariate Cox-proportional hazard models were used to assess association of BMI and waist-hip ratio (WHR) with KSD in 492,380 UK Biobank participants. Causal relationships between WHR, B...

Background: Kidney stone disease (KSD) has been linked to obesity, metabolic syndrome and higher serum calcium concentration (SCa). The mechanisms underlying these associations are uncertain. Using conventional and genetic epidemiological techniques, we aimed to investigate the effects of adiposity on KSD.Methods: Observational associations between adiposity and incident KSD in 479, 405 people from the UK Biobank were assessed. Genome-wide association st...