Berge K E, Bakken A, Bøhn M, Erikssen J, Berg K
Institute of Medical Genetics, University of Oslo, Norway.
Clin Genet. 1997 Aug;52(2):71-6. doi: 10.1111/j.1399-0004.1997.tb02521.x.
Two hundred and thirty-five survivors of myocardial infarction (MI) were compared to 384 controls with respect to distribution of genotypes and gene frequencies in the A1166C polymorphism at the angiotensin II type 1 receptor (AT1R) locus. No differences in allele frequencies or genotype distribution were observed when all patients were compared with all controls. When comparing CC homozygotes with the combined group of CA heterozygotes and AA homozygotes (CA/AA), a difference in borderline significance between the MI group and controls was observed (p=0.05). In males alone, this difference was much more pronounced because of the larger proportion of males with the CC genotype in MI cases than in male controls (p=0.01). No significant differences were observed between female cases and controls. No interaction between the insertion/deletion (I/D) polymorphism at the angiotensin I-converting enzyme (ACE) locus and the polymorphism at the AT1R locus was detected. When subdividing the subjects into a "low-risk" and a "high-risk" group, based on levels of apolipoprotein B (apoB) and body mass index (BMI), and whether or not the person used lipid-lowering drugs, the frequency of CC homozygotes in male cases of the "low-risk" group differed significantly compared to the frequency in male controls of the "low-risk" group (p<0.001). No differences were observed in females, but the number of "low-risk" group female cases was low (n=3). Thus, CC homozygosity appears to be associated with MI in Norwegian males, especially among those with a "low-risk" phenotype.
对235名心肌梗死（MI）幸存者与384名对照者的血管紧张素II 1型受体（AT1R）基因座A1166C多态性的基因型分布和基因频率进行了比较。将所有患者与所有对照者进行比较时，未观察到等位基因频率或基因型分布的差异。当将CC纯合子与CA杂合子和AA纯合子的组合组（CA/AA）进行比较时，MI组与对照组之间观察到边缘显著性差异（p = 0.05）。仅在男性中，这种差异更为明显，因为MI病例中CC基因型男性的比例高于男性对照（p = 0.01）。女性病例与对照之间未观察到显著差异。未检测到血管紧张素I转换酶（ACE）基因座的插入/缺失（I/D）多态性与AT1R基因座的多态性之间的相互作用。根据载脂蛋白B（apoB）水平、体重指数（BMI）以及是否使用降脂药物将受试者分为“低风险”和“高风险”组时，“低风险”组男性病例中CC纯合子的频率与“低风险”组男性对照的频率相比有显著差异（p<0.001）。女性中未观察到差异，但“低风险”组女性病例数量较少（n = 3）。因此，CC纯合性似乎与挪威男性的MI相关，尤其是在具有“低风险”表型的男性中。
