rs2227566

This paper presents a two-stage analysis approach to identify genetic heterogeneity and gene-gene interactions in late-onset Alzheimer disease (LOAD). Using Bayesian Classification clustering followed by multifactor dimensionality reduction (MDR), the authors identified LRRTM3 as a primary stratification gene and found that markers in PLAU, ACE, and CDC2 were associated with LOAD specifically within distinct LRRTM3-defined subgroups, suggesting complex gene-gene interactions in LOAD etiology.

This association study examined six urokinase gene polymorphisms in 252 European-American patients with infection-associated acute lung injury and 175 healthy controls. While single-marker analyses showed no significant associations, haplotype analysis identified the CGCCCC haplotype (rs1916341-rs2227562-rs2227564-rs2227566-rs2227571-rs4065) as significantly associated with 60-day mortality (p=0.033) and prolonged mechanical ventilation (p<0.001) in ALI patients. The urokinase haplotype was associated with outcome but not susceptibility to ALI.