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亚甲基四氢叶酸还原酶677 C→T和1298 A→C基因多态性在阿拉伯人冠状动脉疾病中的患病率及作用

Prevalence and role of methylenetetrahydrofolate reductase 677 C-->T and 1298 A-->C polymorphisms in coronary artery disease in Arabs.

作者信息

Abu-Amero Khaled K, Wyngaard Carol A, Dzimiri Nduna

机构信息

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

出版信息

Arch Pathol Lab Med. 2003 Oct;127(10):1349-52. doi: 10.5858/2003-127-1349-PAROMR.

Abstract

CONTEXT

Previous studies reported an association of 677 C-->T and 1298 A-->C methylenetetrahydrofolate reductase (MTHFR) variants with coronary artery disease (CAD). No previous studies concerning the prevalence of these 2 MTHFR variants or their possible association with CAD in Arabs are currently available in the literature.

OBJECTIVE

To determine the prevalence of MTHFR variants and their potential relevance to CAD among Arabs.

DESIGN

We used polymerase chain reaction and restriction enzyme digestion to determine the prevalence of these 2 MTHFR polymorphisms in 625 healthy blood donors (BDs) and 545 angiographically confirmed CAD patients of Arab origin.

RESULTS

For the 677 C-->T variant within the CAD group, 64.2% were homozygous wild-type C/C, 32.1% were heterozygous C/T, and 3.7% were homozygous T/T genotype. Within the BD group tested for the 677 C-->T variant, 72.2% were homozygous wild-type C/C, 25.8% were heterozygous C/T, and 2% were homozygous T/T genotype. Within the CAD group tested for the 1298 A-->C variant (n = 540), 45.7% were homozygous wild-type A/A, 46.9% were heterozygous A/C, and 7.4% were homozygous C/C genotype. Within the BD group tested for the 1298 A-->C variant (n = 625), 39.4% were homozygous wild-type A/A, 51.5% were heterozygous A/C, and 9.1% were homozygous C/C genotype. The distribution and allele frequency of these 2 MTHFR variants followed the Hardy-Weinberg equilibrium and were similar in the CAD and BD study groups. The prevalence of the 677 C-->T and 1298 A-->C compound heterozygosity was 9.6% for the BD group and 12.3% for the CAD group.

CONCLUSION

The 2 MTHFR variants tested in this study, individually or compound, are not associated with CAD. Therefore, neither of these 2 variants can be considered an independent risk factor or a predictor for CAD in this population.

摘要

背景

先前的研究报道了677 C→T和1298 A→C亚甲基四氢叶酸还原酶(MTHFR)变体与冠状动脉疾病(CAD)之间的关联。目前文献中尚无关于这两种MTHFR变体在阿拉伯人群中的患病率或其与CAD可能关联的研究。

目的

确定阿拉伯人群中MTHFR变体的患病率及其与CAD的潜在相关性。

设计

我们使用聚合酶链反应和限制性内切酶消化来确定这两种MTHFR多态性在625名健康献血者(BD)和545名经血管造影证实为阿拉伯裔CAD患者中的患病率。

结果

在CAD组中,对于677 C→T变体,64.2%为纯合野生型C/C,32.1%为杂合子C/T,3.7%为纯合子T/T基因型。在检测677 C→T变体的BD组中,72.2%为纯合野生型C/C,25.8%为杂合子C/T,2%为纯合子T/T基因型。在检测1298 A→C变体的CAD组(n = 540)中,45.7%为纯合野生型A/A,46.9%为杂合子A/C,7.4%为纯合子C/C基因型。在检测1298 A→C变体的BD组(n = 625)中,39.4%为纯合野生型A/A,51.5%为杂合子A/C,9.1%为纯合子C/C基因型。这两种MTHFR变体的分布和等位基因频率符合哈迪-温伯格平衡,且在CAD组和BD研究组中相似。BD组中677 C→T和1298 A→C复合杂合子的患病率为9.6%,CAD组为12.3%。

结论

本研究中检测的这两种MTHFR变体,单独或复合,均与CAD无关。因此,在该人群中,这两种变体均不能被视为CAD的独立危险因素或预测指标。

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