Castejon A M, Bracero J, Hoffmann I S, Alfieri A B, Cubeddu L X
Department of Pharmaceutical Sciences, Health Professions Division, College of Pharmacy, NOVA Southeastern University (NSU), Fort Lauderdale, FL 33328, USA.
J Hum Hypertens. 2006 Oct;20(10):772-9. doi: 10.1038/sj.jhh.1002057. Epub 2006 Jun 1.
Mutations in the NAD(P)H oxidase gene may be associated with abnormal superoxide generation, nitric oxide (NO) availability and cardiovascular diseases. We investigated the prevalence of the NAD(P)H oxidase p22phox gene C242T polymorphism, and its possible association with blood pressure, NO production, salt sensitivity and cardiovascular risk factors in Hispanics. Genotype frequencies were as follows: CC, 52.9%; CT, 40.3%; and TT, 6.8%. There were no significant differences in systolic blood pressure, diastolic blood pressure, age, weight, fasting and post-load glucose levels, LDL and HDL cholesterol, triglyceride and urinary albumin levels in subjects with CC, CT or the TT genotypes. Presence of the T allele was associated with increased salt sensitivity in women, but not in men. NO metabolite excretion was markedly decreased both in women and men with the TT genotype (CC: 868+/-79 micromol/day; CT: 839+/-75 micromol/day; TT: 534+/-78 micromol/day; P<0.05). In conclusion, the prevalence of the NAD(P)H oxidase p22phox gene C242T polymorphism in Venezuelans was comparable to that of Caucasians, but different from that of Chinese and Japanese. Although the T allele was not associated with cardiovascular risk factors, hyperinsulinaemia or hypertension, in women, it appeared to be a genetic susceptibility factor for salt sensitivity. Both in women and men, the p22phox gene may play a role in the genetic control of NO levels.
烟酰胺腺嘌呤二核苷酸磷酸（NAD(P)H）氧化酶基因突变可能与超氧化物生成异常、一氧化氮（NO）可用性及心血管疾病有关。我们调查了NAD(P)H氧化酶p22phox基因C242T多态性的患病率，及其与西班牙裔人群血压、NO生成、盐敏感性和心血管危险因素之间的可能关联。基因型频率如下：CC，52.9%；CT，40.3%；TT，6.8%。CC、CT或TT基因型受试者的收缩压、舒张压、年龄、体重、空腹及负荷后血糖水平、低密度脂蛋白和高密度脂蛋白胆固醇、甘油三酯及尿白蛋白水平均无显著差异。T等位基因的存在与女性盐敏感性增加有关，而与男性无关。TT基因型的男性和女性NO代谢产物排泄均显著降低（CC：868±79微摩尔/天；CT：839±75微摩尔/天；TT：534±78微摩尔/天；P<0.05）。总之，委内瑞拉人NAD(P)H氧化酶p22phox基因C242T多态性的患病率与白种人相当，但与中国人和日本人不同。尽管T等位基因与心血管危险因素、高胰岛素血症或高血压无关，但在女性中，它似乎是盐敏感性的遗传易感因素。在男性和女性中，p22phox基因可能在NO水平的遗传控制中起作用。
