Association of two variants C677T and A1298C MTHFR gene polymorphisms with ischemic heart, ischemic stroke and venous thromboembolism diseases in a sample of Arabic Iraqi patients

Abstract

Background: There are genetic polymorphisms mostly single amino acid substitution occurred in the MTHFR gene, mutant type of this gene inhibit the production of MTHFR enzyme, it may result in excess homocysteine level in plasma which is thought to be the susceptibility of occlusive vascular diseases. About 109 mutations in MTHFR have been described as causing severe MTHFR deficiency. The most common MTHFR gene polymorphism can be detected as two variants; C677T and A1298C single nucleotide polymorphism (SNP) that are relatively common in many populations worldwide. Objective: For investigation of the association of two variants C677T and A1298C MTHFR gene polymorphisms with Ischemic heart, ischemic stroke and venous thromboembolism diseases. Subjects and method: This study was a prospective case-control trial included 58 Arabic Iraqi patients (43 males and 15 females) aged between 20-64 years suffered from different cardiovascular and thromboembolic disorders. Whereas, control group included 52 subjects composed of 41 males and 11 females without any thrombotic event history. The detection of MTHFR genetic polymorphism (wild, heterozygous, homozygous) by using real time polymerase chain reaction technique (quantitative real time PCR) for two specific variants of MTHFR (C677T and A1298C) as single nucleotide polymorphism to assess allele frequency or genotype distribution (CC,TT,CT and AA,CC, AC respectively).