NOS2 C-1173T、G-954C单核苷酸双重多态性与高血压病的关系

目的研究中国汉族人群诱导型一氧化氮合酶(NOS2)基因启动子区C-1173T、G-954C单核苷酸双重多态性(SNP)及其基因型组合与高血压病的相关性。方法随机选择的高血压病个体192人(男97例,女95例)以及健康汉族个体109例(男61例,女48例)检测血白细胞基因DNA,利用嵌巢式等位基因特异性引物PCR技术检测NOS2C-1173T(C-T)、NOS2G-954CSNP(G-C),并应用聚类分析其基冈多态性特征。结果NOS2C-T与G-CSNP基因型分布:高血压病组CC基因型频率(64.06％)与正常对照组(59.17％)相比无差异(P>0.05),TT基因型频率较正常对照组低(P<0.05,x2=4.804)。在女性高血压病患者T等位基因频率与正常对照组无显著性差异;而在男性高血压病患者T等位基因频率较正常对照组低(P<0.05,x2=5.182)。NOS2C-T与G-C组合基因型分布发现:高血压病组携带TT+GG与TT+GC总频率明显低于正常对照组(P<0.05,x2=4.804),男性高血压病患者尤为明显(P<0.05,x2=4.2876)。结论(1)中国汉族人群NOS2C-1173T多态性与男性患高血压病有相关性;NOS2G-954CSNP多态性与高血压病无关。(2)在高血压病男性病人携带,T-1173T+NOS2G-954G与NOS2T-1173T+NOS2G-954C频率较正常对照组低。

Association between Dual Polymorphisms of NOS2 C-1173T and NOS2 G-954C and Essential Hyperten- sion in the Chinese Han Nationality Population

Objective To study the association of dual polymorphisms (SNP) of NOS2 C-1173T and NOS2 G-954C with essential hypertension in the Chinese Han population. Methods One hundred ninety-two patients (female 95 and male 97) were enrolled and 109 healthy people)female 48 and male 61) as controls. Results No differences in CC genotype frequency of NOS2 C-1173T(C-T) was shown between patients and healthy (65% vs 59%). While TT genotype frequency was lower than that in the healthy (6. 25% vs 13.76%, P<0.05) but only in male patients (P<0.05, x2 = 5. 182). Furthermore.no diffrences in GG, GC genotype frequency of NOS2 G-954-C(G-C) between patients and healthy was found. Although the combination of C-T and G-C genotype study showed no differences in NOS2 C-1173C + G-954-G combination between patients and healthy, however, the total frequency of NOS2 T-1173T and G-954G (TT + GG) and NOS2 T-1173T + G-954C(TT + GC) combination genotype was lower in male patients than that in male healthy ( TT + GG: 6. 19% vs 11. 5% ;TT + GC;0% vs 4.9%, all P<0. 05) with no differences in frequency distribution between female patients and healthy. Conclusion These data showed NOS2 C-1173T SNP polymorphism was associated with male essential hypertension while NOS2 G-954C SNP was not. The total frequency of NOS2 T-1173T + G-954G and NOS2 T-1173T+G-954C combination genotypes in essential hypertension patients was lower than that in healthy male people, but only in the male patients.