| Abstract |
Accumulating evidence suggests that both homocysteine metabolism and monoaminergic neurotransmitter systems are important in精神分裂症pathology. We hypothesized that the genePNPO(pyridoxine 5'-phosphatase oxidase gene) might be a candidate for susceptibility to精神分裂症becausePNPOencodes pyridoxamine 5'-phosphate oxidase (EC 1.4.3.5), a rate-limiting enzyme in pyridoxal 5'-phosphate (PLP, vitamin B(6)) synthesis. PLP is a metabolically-active form of vitamin B(6) and thus, is required as a co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. We examined 8 single nucleotide polymorphisms (SNPs) inPNPOand its 5'-flanking regions in 359精神分裂症patients and 582 control subjects. Four marker regions ofPNPOshowed significant levels of allelic associations with精神分裂症(the highest was rs2325751, P=0.004). In addition, the haplotype case-control study revealed a significant association (permutation P<0.00001) betweenPNPOand精神分裂症. These findings suggest that variations inPNPOmay contribute to overall genetic risk for精神分裂症in the Japanese population. |