MERAL URHAN KÜÇÜK, AYŞEGÜL BAYRAMOĞLU, HALİL İBRAHİM GÜLER, Semire GÖÇMEN UZUN, Yunusq KUÇUKKAYA, Okay ABACI, ABDULLAH ARPACI, MUSTAFA ÇAĞATAY KORKMAZ

MTHFR and MMP-9 Genetic Variants in Coronary Artery Disease

Amaç: Koroner arter hastalığı (KAH), hem genetik hem de çevresel faktörlerden etkilenen çok faktörlü bir hasta- lıktır. Aday genlerdeki tek nükleotid polimorfizmleri (SNP) bu tür multifaktöryel hastalıklara yatkınlığa neden olurlar. Bu yüzden, KAH etiyopatogenezinde rol oynayan genler- de SNPlerin araştırılması, önemli hale gelir. Bu çalışma- da, KAH oluşumu üzerinde, matriks metalloproteinaz-9 (MMP9) -1562 C/T ve metilentetrahidrofolat redüktaz (MTHFR) 677 C/T polimorfizmlerinin bağımsız ve siner- jistik 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 genotip- ler polimeraz zincir reaksiyonu (PCR)- restriksiyon frag- manı 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 homo- zigot 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 polimor- fizmleri ile koroner arter hastalığı arasında ilişki bulunma- dı. Ancak Güneydoğu Anadolu bölgesinde TT genotipinin çok nadir olduğu belirlendi.

Koroner Arter Hastalığında MTHFR ve MMP-9 Genetik Variantları

Objective: Coronary artery disease (CAD) is a multifacto- rial disease that influenced by both genetic and environ- mental factors. Single nucleotide polymorphisms (SNPs) in the candidate genes produce susceptibility to such mul- tifactorial 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 me- talloproteinase (MMP) -1562 C/T and methylenetetrahy- drofolate 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 exam- ined. We determined the genotypes for MMP-9 -1562 C/T and MTHFR 677 C/T polymorphisms by polymerase chain reaction (PCR)-restriction fragment length polymor- phism (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

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