Evidence for associations between the purinergic receptor P2X(7) (P2RX7) and toxoplasmosis.

Congenital Toxoplasma gondii infection can result in intracranial calcification, hydrocephalus and retinochoroiditis. Acquired infection is commonly associated with ocular disease. Pathology is characterized by strong proinflammatory responses. Ligation of ATP by purinergic receptor P2X(7), encoded by P2RX7, stimulates proinflammatory cytokines and can lead directly to killing of intracellular pathogens. To determine whether P2X(7) has a role in susceptibility to congenital toxoplasmosis, we examined polymorphisms at P2RX7 in 149 child/parent trios from North America. We found association (FBAT Z-scores +/-2.429; P=0.015) between the derived C(+)G(-) allele (f=0.68; OR=2.06; 95% CI: 1.14-3.75) at single-nucleotide polymorphism (SNP) rs1718119 (1068T>C; Thr-348-Ala), and a second synonymous variant rs1621388 in linkage disequilibrium with it, and clinical signs of disease per se. Analysis of clinical subgroups showed no association with hydrocephalus, with effect sizes for associations with retinal disease and brain calcifications enhanced (OR=3.0-4.25; 0.004

Informatics for Peru in the new millennium.

INTRODUCTION: As efforts continue to narrow the digital divide between the North and South, a new biomedical and health informatics training effort has been launched in Peru. This report describes the first year of work on this collaborative effort between the University of Washington (Seattle) Universidad Peruana Cayetano Heredia and Universidad Nacional de San Marcos (Peru) OBJECTIVES: To describe activities in the first year of a new International Research and Training Program in Biomedical and Health Informatics. METHODS: Descriptive analysis of key activities including an assessment of electronic environment through observation and survey, an in country short course with quantitative evaluation, and first round of recruitment of Peruvian scholars for long-term training in Seattle. RESULTS: A two-week short course on informatics was held in the country. Participants' success in learning was demonstrated through pretest/posttest. A systematic assessment of electronic environment in Peru was carried out and two scholars for long-term training were enrolled at the University of Washington, Seattle. DISCUSSION: Initial activity in the collaborative training effort has been high. Of particular importance in this environment is orchestration of efforts among interested parties with similar goals in Peru, and integration of informatics skills into ongoing large-scale research projects in country.