MTHFR and MMP-9 Genetic Variants in Coronary Artery Disease

Abstract

Objective: Coronary artery disease (CAD) is a multifactorial disease that influenced by both genetic and environmental factors. Single nucleotide polymorphisms (SNPs) in the candidate genes produce susceptibility to such multifactorial diseases. Therefore, investigations of SNPs, in the genes that may play role in etiopathogenesis of CAD, become crucial. In the present study we investigated the both independent and synergistically effects of matrix metalloproteinase (MMP) -1562 C/T and methylenetetrahydrofolate reductase (MTHFR) 677 C/T polymorphisms on the CAD occurrence.
Methods: In total 217 individuals, 109 coronary artery disease patients and 108 healthy controls were examined. We determined the genotypes for MMP-9 -1562 C/T and MTHFR 677 C/T polymorphisms by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP).
Results: We found no statistically significant differences between genotypes and allelic frequencies of both MMP-9 -1562 C/T and MTHFR 677 C/T polymorphisms and CAD (p>0.05). No TT homozygous genotype was found in any of groups for MMP9 -1562 C/T polymorphism. However, while C allele and CC genotype was found to be highly, TT genotype was found to be very rare for both polymorphisms in Southeastern Anatolia.
Conclusion: We have found no associations between MMP9 -1562 C/T and MTHFR 677 C/T polymorphisms and coronary artery disease. However, TT genotype was determined to be very rare in Southeast Anatolia.
Key words: Methylenetetrahydrofolate reductase (MTHFR) -677, Matrix metalloproteinase 9 (MMP9) -1562, polymorphism, coronary artery disease

Keywords

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Koroner Arter Hastalığında MTHFR ve MMP-9 Genetik Variantları

Abstract

Amaç: Koroner arter hastalığı (KAH), hem genetik hem de çevresel faktörlerden etkilenen çok faktörlü bir hastalıktır. Aday genlerdeki tek nükleotid polimorfizmleri (SNP) bu tür multifaktöryel hastalıklara yatkınlığa neden olurlar. Bu yüzden, KAH etiyopatogenezinde rol oynayan genlerde SNPlerin araştırılması, önemli hale gelir. Bu çalışmada, KAH oluşumu üzerinde, matriks metalloproteinaz-9 (MMP9) -1562 C/T ve metilentetrahidrofolat redüktaz (MTHFR) 677 C/T polimorfizmlerinin bağımsız ve sinerjistik etkileri araştırıldı.Yöntemler: 109 koroner arter hastası ve 108 sağlıklı kontrol olmak üzere toplam 217 birey incelendi. MTHFR 677 C/T ve MMP-9 -1562 C/T polimorfizmleri için genotipler polimeraz zincir reaksiyonu (PCR)- restriksiyon fragmanı uzunluk polimorfizmi (RFLP) ile belirlendi.Bulgular: KAH ile MMP-9 -1562 C/T ve MTHFR - 677 C/T polimorfizmlerinin genotipleri ve alel frekansları arasında istatistiksel olarak anlamlı bir farklılık olmadığı bulundu. (p> 0.05) MMP9 -1562 C/T polimorfizmi için TT homozigot genotipi hiç bir grupta bulunmadı. Bununla birlikte, Güneydoğu Anadolu Bölgesinde C aleli ve CC genotipi her iki polimorfizm için hakim iken, TT genotipi ise çok nadir olarak bulundu. Sonuç: MTHFR 677 C/T ve MMP9 -1562 C/T polimorfizmleri ile koroner arter hastalığı arasında ilişki bulunmadı. Ancak Güneydoğu Anadolu bölgesinde TT genotipinin çok nadir olduğu belirlendi

Keywords

• Metilentetrahidrofolat redüktaz MTHFR 677 C/T, matriks metalloproteinaz-9 (MMP9) -1562 C/T, polimorfizm, koroner arter hastalığı

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