P2RX7 variant rs1718119 association with glucose homeostasis in Botnia cohort

A targeted genetic association study was performed in the Prevalence, Prediction, and Prevention of Diabetes in Botnia cohort (n=3504) to examine the relationship between P2RX7 polymorphisms and refined measures of glucose homeostasis. The study focused on two genomic regions (P2RX4/P2RX7 and P2RY1) and specifically analyzed the functional missense variant rs1718119 (A348T) in P2RX7. This variant was associated with increased insulin sensitivity and secretion, consistent with its known effect on increased pore function. The study provided detailed phenotyping including refined measures of glucose homeostasis beyond standard glycemic parameters.