Investigation of relationship between IL-6 gene variants and hypertension in Turkish population

Hypertension (HT) is a common and life threating health problem worldwide leading to stroke, heart attack and renal failure. It is characterized by elevated blood pressure forced heart load. Human interleukin-6 (IL-6) and C- reactive protein (CRP) are known to be involved in inflammatory processes. IL-6 gene is a polymorphic gene which -174 G/C is a common and -572 G/C is a rare polymorphisms identified in promoter region. Publications on IL-6 gene polymorphisms raised the question whether this gene polymorphisms lead to susceptibility to HT or not. To investigate the effects of IL-6 gene -174 G/C (rs 1800795) and -572 G/C (rs1800796) polymorphisms on plasma IL-6 and CRP levels and their associations with hypertension disease in Turkish population we analyzed -174 G/C and -572 G/C polymorphisms and plasma IL-6 and CRP levels in 111 healthy controls and 108 hypertension patients from Adyaman, Turkey. We determined the genotypes using polymerase chain reaction-restriction fragment length polymorphism and analyzed plasma levels of IL-6 by ELISA and CRP by automated standard biochemical methods. We have found no statistically significant differences between IL-6 gene -174 G/C and -572 G/C genotypes and allelic frequencies and IL-6 and CRP plasma levels and HT (p > 0.05). No CC genotype was found in control subjects for -572 G/C polymorphism. In conclusion, we found relation to -174 G/C and -572 G/C gene variants between neither IL-6 and CRP levels nor hypertension. The -572 G allele and GG genotype are predominant in Turkish population in Adyaman, Turkey whereas the CC genotype is very rare.This study was supported by a grant of the Research Foundation of Adiyaman University (FEFYL/2012-0002), Turkey

Koroner arter hastalığında MTHFR ve MMP-9 genetik variantları

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.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 Anatoli

MTHFR and MMP-9 genetic variants in coronary artery disease

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 MMP9 -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.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

MTHFR and MMP 9 Genetic Variants in Coronary Artery Disease

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