rs1718119

Association study of P2RX7 gene polymorphisms in a Chinese Han male population revealed that rs2230911 is associated with primary gout risk, with allele G conferring increased susceptibility (OR=1.755, 95% CI 1.278-2.410, P<0.001). The study examined 293 primary gout patients, 187 hyperuricemia patients, and 269 healthy controls using SNaPshot genotyping of seven P2RX7 SNPs, finding that rs2230911-G variant carriers also showed higher blood glucose and uric acid levels.

A case-control study of 521 Chinese SLE patients and 527 controls found no significant association between two IL-23R gene polymorphisms (rs10889677 and rs1884444) and systemic lupus erythematosus susceptibility or lupus nephritis. Chi-square and logistic regression analysis showed no significant differences in allele or genotype frequencies between patients and controls (rs10889677: p=0.085 for allele frequency; rs1884444: p=0.515 for allele frequency), and haplotype analysis was also non-significant.

Association study of 15 non-synonymous P2X7 receptor polymorphisms in 921 Dutch fracture patients (690 women, 231 men) found that the Ala348Thr gain-of-function variant was associated with increased lumbar spine BMD (p=0.012), while loss-of-function variants Glu496Ala and Gly150Arg were associated with decreased hip and lumbar spine BMD (p=0.018, p=0.011 respectively), and in men, Gln460Arg was associated with 40% decreased osteoporosis risk (OR=0.58 [95%CI, 0.33-1.00]).

This dissertation characterizes multiple transgenic P2X7 receptor (P2X7R) mouse models to investigate the role of P2X7R in anxiety- and depression-related behaviors. Humanized P2X7R knockout mice and a microglia-specific P2X7R-KO showed no significant alterations in anxiety, anhedonia, or coping behaviors under baseline or chronic stress conditions, contrary to some prior animal studies. Two reporter lines (P2X7-EGFP and sEGFP) both displayed P2X7R overexpression but exhibited differential expression patterns. A third CreERT2 inducible line lacked functionality due to aberrant targeting construct insertion. Neither P2X7R overexpressing line showed significant behavioral phenotypes compared to controls, highlighting both the utility and limitations of transgenic approaches for studying P2X7R in neuropsychiatric disease models.