Methylenetetrahydrofolate reductase ( MTHFR) gene polymorphism (C677T)] is a well-recognized genetic risk factor for venous thrombosis; however, its association with arterial thrombosis is still under debate. Herein, we evaluated the prevalence of MTHFR C677T polymorphism in Georgian patients in comparison with healthy individuals and its association with arterial thrombosis. We enrolled 214 participants: 101 with arterial thrombosis (71.3% males; mean age: 66.3 ± 12.1 years) and 113 controls (67.3% males; mean age: 56.6 ± 11.3 years). Genomic DNA was extracted from dry blood spot on Whatman filter paper. Polymerase chain reaction was performed to determine MTHFR C677T polymorphism. Frequency of C677T allele polymorphism in controls was 21.2%, which corresponded to heterozygous and homozygous stage frequencies of 35.4% and 3.5%, respectively. In patient group, an allelic frequency of 33.2% was found, which corresponded to the presence of 48.5% of heterozygous and 8.9% of homozygous individuals. Comparing the frequency of mutated alleles between the 2 groups, a significantly high frequency of mutated alleles was found in patient group ( P < .05). In conclusion, high frequency of MTHFR C677T polymorphism found in arterial thrombosis patient group suggests that this polymorphism might increase the risk of arterial thrombosis in Georgian patients.

Cardiovascular diseases (CVD) are the most common cause of death worldwide. As arterial as venous thrombosis are major cause’s morbidity and mortality. There is an exponential increase in the risk of arterial and venous thrombotic events with age, gender, smoking habits, diet type etc. The association of arterial and venous thrombosis and ABO histo-blood group is well established. Our research aim was to find a possible relationship between age, gender, smoking habit, ABO, Rh, Kell, MN blood group and arterial thrombosis in the example of the Georgian population. The study material comprised the blood samples of 100 patients with arterial thrombosis. Also, control (donor) groups were studied. The Control group included individuals without cardiovascular disease during the 2019–2020 periods. They were asymptomatic, healthy persons. The immunoserological express method with universal monoclonal antibodies ware used. 77% of the studied patients were males. The majority of patients were over the 60 years old. 35% of our studied patients are non-smoker, 39% are ex-smoker, and 26% are active smokers. A similar distribution has the ABO and Rh phenotypes in patients and donors. M+ N+ (MN) the phenotype is relatively high in the patient group to comparing to donors. Kell antigen prevalence was relatively high in studied patients. Our study has shown maleness as a higher risk factor for arterial thrombosis. The smokers have a more predicted chance for arterial thrombosis. K+ phenotype and M+ N+ characteristics are a high prevalence in patients. There is no correlation between ABO and Rh blood groups with arterial thrombosis.

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Results Among 150 HGSC samples, we identified 44 samples (29.3%) with reportable variants with variant allele frequencies from 10.3%-99.4%. These included 35 point mutations/ insertions/deletions, 7 exon/whole gene deletions, and 2 BRCA1 exon 13 duplications. A subset (26) of these variants were then confirmed by targeted assays using Sanger and MLPA. Conclusions Utilizing NGS technology, we reliably identified BRCA mutations in FFPE tumor samples. A validated NGS pipeline provides a valuable clinical tool to conduct Traceback initiatives to the families of deceased ovarian cancer patients never tested for germline mutations.