Association study of DGKH gene polymorphisms with calcium oxalate stone in Chinese population

Diacylglycerol kinase eta (DGKH) participates in regulating the intracellular concentrations of two bioactive lipids, diacylglycerol and phosphatidic acid. With the emerging evidence of a novel regulatory function for diacylglycerol kinase and diacylglycerol in transplasmalemmal calcium ion influx, the present study was designed to investigate the association between DGKH genetic polymorphisms and calcium oxalate stone. 507 patients with calcium oxalate stone and 505 healthy cohorts as control were entered in this prospective study. Three tag single nucleotide polymorphisms (rs4142110, rs180870 and rs17646069) were investigated. Genotyping was carried out by iPLEX Gold for MassARRAY system. Our results showed that rs4142110 was associated with risk of calcium oxalate stone and hypercalciuria (P < 0.05). The T allele, CT genotype, TT genotype, and the combined T variant genotype (TT + CT) of rs4142110 significantly decreased calcium oxalate stone risk (P < 0.05). Rs180870 also showed significant association in genotype distributions between cases and controls (P = 0.042). Hypercalciuria was more prevalent in stone formers (P = 0.010). These findings implicate a link between nucleotide variant of DGKH and a cause for a complex-trait disease, calcium oxalate stone. Similar relationship might also exist between polymorphism of DGKH and hypercalciuria.