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目的 对天津地区汉族人内皮细胞固有型一氧化氮合酶(ecNOS)基因内含子4的插入/缺失多态性(ecNOS4b/a)与2型糖尿病肾病(DN)的关联性进行研究。方法 应用PCR-小卫星DNA多态性分析技术对ecNOS4b/a基因型分布进行检测。包括正常对照组70例,2型糖尿病无DN组48例,2型糖尿病有DN无慢性肾功能不全(CRF)组35例,2型糖尿病DN有CRF组45例和非DN导致的CRF组58例。结果 (1)发现1例罕见基因型(女性DN无CRF患者),为447 bp+420 bp杂合子。(2)2型糖尿病无DN组a等位基因频率高于正常对照组,差异无显著性意义(x2=1.672,P=0.196)。(3)2型糖尿病伴DN组a等位基因频率低于2型糖尿病无DN组,差异无显著性意义(x2=1.082,P=0.298)。(4)DN无CRF组与DN伴CRF组等位基因频率相近(校正x2=0.002,P=0.967)。(5)DN伴CRF组a等位基因频率低于其它原因导致的CRF组,差异有显著性意义(x2=4.360,P=06037)。结论 a等位基因可能不是天津汉族人DN的危险因素;天津地区汉族健康人群a等位基因频率低于日本人;ecNOS在DN导致的CRF中的作用可能与非DN CRF不同。
Objective To investigate the association of ecNOS4 in / exon 4 inducible endothelial nitric oxide synthase (INN4) gene and type 2 diabetic nephropathy (DN) in Han population in Tianjin. Methods The distribution of ecNOS4b / a genotypes was detected by PCR-mini-satellite DNA polymorphism analysis. Including 70 cases of normal control group, 48 cases of type 2 diabetes without DN group, 35 cases of type 2 diabetes mellitus without chronic renal insufficiency (CRF) group, 45 cases of type 2 diabetes mellitus with CRF group and 58 cases of non-DN-induced CRF group example. Results (1) One case of rare genotype (female without DNF CRF) was found, which was 447 bp + 420 bp heterozygote. (2) The frequency of a allele in DN without DN group was higher than that in normal control group (χ2 = 1.672, P = 0.196). (3) The frequency of a allele in type 2 diabetic patients with DN was lower than that in type 2 diabetic patients without DN (x2 = 1.082, P = 0.298). (4) The frequencies of alleles of DN without CRF group and DN with CRF group were similar (corrected x2 = 0.002, P = 0.967). (5) The frequency of a allele in DN patients with CRF was significantly lower than those in other CRF patients (x2 = 4.360, P = 06037). Conclusion The allele a may not be a risk factor for DN in Tianjin Han population. The allele frequency of a allele in healthy Han population in Tianjin is lower than that in Japanese. The role of ecNOS in DN-induced CRF may be different from that in non-DN CRF.