Shagisultanova E I, Mustafina O E, Tuktarova I A, Khusnutdinova E K
Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences.
Mol Gen Mikrobiol Virusol. 2001(3):18-22.
The purpose of this study was to determine whether HindIII restriction polymorphism found in intron 8 of lipoprotein lipase gene is associated with the onset of myocardial infarction (MI) in Russians and Tartars living in Bashkortostan. HindIII polymorphism was investigated by the polymerase chain reaction in myocardial infarction survivors (males aged under 55 years (98 Russians and 68 Tartars) and in controls (53 Russians and 80 Tartars). The distribution of genotypes and allele frequencies in the controls were as follows: the frequencies of genotypes HindIII(-/-), HindIII(+/-), and HindIII(+/+) in Russians (3.77, 49.06, and 47.17%, respectively) did not differ from those in Tartars (7.50, 51.24, and 41.25%, respectively), while the frequency of HindIII(-) allele was 28.30% in Russians and 33.13% in Tartars. Among Tartars, the HindIII(+/+) genotype was more common in myocardial infarction survivors than in controls (OR 2.03). In the Russians this genotype was not associated with the risk of MI. The frequencies of HindIII(+/+) genotype and allele HindIII(+) were significantly higher (OR 8.96 and 6.71, respectively) and frequencies of HindIII(+/-) genotype and allele HindIII(-) were lower (OR 0.13 and 0.15) in Russian patients with repeated MI. These findings indicate that HindIII polymorphism may be a genetic risk factor for MI before 55 years of age in the Tartars and for repeated MI in Russians. This association prompts genotyping of HindIII polymorphism for predicting MI recurrence in Russian survivors after MI.
本研究的目的是确定脂蛋白脂肪酶基因第8内含子中发现的HindIII限制性片段长度多态性是否与居住在巴什科尔托斯坦的俄罗斯人和鞑靼人心肌梗死（MI）的发病有关。通过聚合酶链反应对心肌梗死幸存者（年龄在55岁以下的男性，98名俄罗斯人和68名鞑靼人）及对照组（53名俄罗斯人和80名鞑靼人）进行HindIII多态性研究。对照组中基因型和等位基因频率分布如下：俄罗斯人HindIII（-/-）、HindIII（+/-）和HindIII（+/+）基因型频率分别为3.77%、49.06%和47.17%，与鞑靼人（分别为7.50%、51.24%和41.25%）无差异，而俄罗斯人HindIII（-）等位基因频率为28.30%，鞑靼人为33.13%。在鞑靼人中，心肌梗死幸存者中HindIII（+/+）基因型比对照组更常见（比值比2.03）。在俄罗斯人中，该基因型与心肌梗死风险无关。在俄罗斯复发性心肌梗死患者中，HindIII（+/+）基因型和HindIII（+）等位基因频率显著更高（分别为比值比8.96和6.71），而HindIII（+/-）基因型和HindIII（-）等位基因频率更低（分别为比值比0.13和0.15）。这些发现表明HindIII多态性可能是鞑靼人55岁之前心肌梗死以及俄罗斯人复发性心肌梗死的遗传危险因素。这种关联促使对俄罗斯心肌梗死幸存者进行HindIII多态性基因分型以预测心肌梗死复发。
