Shimoyama_2014_Nagoya.J.Med.Sci_76_113

Nuclear factor-erythroid 2 (NF-E2)-related factor 2 (Nrf2) is a transcription factor that regulates the expression of antioxidant genes by activating Nrf2-antioxidant response element (ARE) pathway. This study aimed to investigate association of Nrf2 gene single nucleotide polymorphisms (SNPs), rs35652124 (A --> G) and rs6721961 (C --> A), with various laboratory data in 464 health evaluation examinees. The genotyping of these SNPs was performed using polymerase chain reaction with confronting two-pair primers (PCR-CTPP) assay. The genotype frequencies of rs35652124 SNP were 21.1% for AA, 44.0% for AG, and 34.9% for GG. The frequency of A allele was 0.431. In male subjects, cholinesterase was significantly high, and HDL cholesterol was significantly low in (AG+GG) carriers. In female subjects, diastolic blood pressure (BP) was significantly low in (AG+GG) carriers. The genotype frequencies of rs6721961 SNP were 55.2% for CC, 34.7% for CA, and 10.1% for AA. The frequency of A allele was 0.275. In male subjects, systolic BP, diastolic BP and cholinesterase were significantly low, and iron was significantly high in (CA+AA) carriers. In female subjects, cholinesterase was significantly high in (CA+AA) carriers, and diastolic BP was significantly high in AA carriers. In conclusion, Nrf2 polymorphisms are associated with BP in Japanese.