Rahmutula D, Nakayama T, Soma M, Takahashi Y, Uwabo J, Sato M, Izumi Y, Saito S, Honye J, Kanmatsuse K, Ozawa Y
2nd Department of Internal Medicine, Nihon University School of Medicine, 30-1 Ooyaguchi-kamimachi, Itabashi-ku, Tokyo 173, Japan.
Med Sci Monit. 2000 Nov-Dec;6(6):1056-60.
We examined previously the genomic structure of the human natriuretic peptide receptor type B (hNPRB) gene and reported a C2077T polymorphism located in exon 11 of the gene. We now have studied the C2077T polymorphism in myocardial infarction [MI] patients and non-MI [control] subjects to evaluate the value of this polymorphism as a marker for MI.
302 subjects (163 MI patients and 139 non-MI age-matched control subjects) were studied. PCR-restriction fragment length polymorphism analysis (PCR-RFLP) was developed to detect the C2077T transition.
The distribution of C2077T polymorphism genotypes in the MI patients (CC:CT:TT, 47.2%:41.1%:11.7%) was not significantly different from that in the control patients (CC:CT:TT, 53.2%:40.3%:6.5%) (chi 2 = 2.73, p = NS). Allele frequencies of the C2077T polymorphism were f(C/T) 68.2%/31.8% in the MI group and 73.4%/26.6% in the control group. However, no association was found between this polymorphism and clinical diagnosis of MI.
Our data indicate that the C2077T polymorphism is not a useful marker of the relation between the hNPRB gene and MI in the Japanese and variations of the hNPRB gene that may be in linkage disequilibrium with this polymorphism do not play a causative role in MI.
我们之前研究了人类B型利钠肽受体（hNPRB）基因的基因组结构，并报道了该基因第11外显子中的C2077T多态性。我们现在研究了心肌梗死（MI）患者和非MI（对照）受试者中的C2077T多态性，以评估这种多态性作为MI标志物的价值。
研究了302名受试者（163名MI患者和139名年龄匹配的非MI对照受试者）。开发了聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）来检测C2077T转换。
MI患者中C2077T多态性基因型的分布（CC:CT:TT，47.2%:41.1%:11.7%）与对照患者（CC:CT:TT，53.2%:40.3%:6.5%）无显著差异（χ2 = 2.73，p = 无显著性差异）。MI组中C2077T多态性的等位基因频率为f(C/T) 68.2%/31.8%，对照组为73.4%/26.6%。然而，未发现这种多态性与MI的临床诊断之间存在关联。
我们的数据表明，在日本人中，C2077T多态性不是hNPRB基因与MI之间关系的有用标志物，并且可能与这种多态性处于连锁不平衡的hNPRB基因变异在MI中不发挥致病作用。
