PURPOSE: Deep venous thrombosis (DVT) is a common but elusive condition characterized by a high morbidity and mortality rate. The aim of the present study was to investigate the correlation between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with plasma total homocysteine (tHcy) levels and DVT risk in an Iranian population. MATERIALS AND METHODS: Our study population consisted of 67 patients with a diagnosis of DVT and 67 healthy subjects as controls. Genotyping of MTHFR C677T polymorphism was performed by the polymerase chain reaction technique combined with restriction enzyme fragment length polymorphism (PCR-RFLP) and measurement of tHcy levels was done by enzyme immunoassay method. RESULTS: Plasma tHcy levels were significantly higher in DVT patients than controls (18.09+/-7.6 vs. 10.5+/-4.3, P=0.001). Also, plasma tHcy levels were significantly higher in MTHFR 677TT genotypes compared to 677CC genotypes in both DVT patients (P=0.016) and controls (P=0.03). Neither heterozygote nor homozygote genotypes of MTHFR C677T polymorphism was significantly correlated with DVT (P>0.05). The distribution of MTHFR C677T genotypes was similar between men and women in both DVT patients and controls (P>0.05). Moreover, the frequency of mutant 677T allele did not differ significantly between the two groups (28.3% vs. 21.6%, P=0.15). CONCLUSION: Based on this study, we propose that hyperhomocysteinemia but not homozygosity for MTHFR C677T polymorphism is a significant risk factor for DVT in the Iranian population. Also, MTHFR 677TT genotype is a determinant of elevated plasma tHcy levels.
Alleles ; Diagnosis ; Female ; Genotype ; Heterozygote ; Homocysteine ; Homozygote ; Humans ; Hyperhomocysteinemia* ; Immunoenzyme Techniques ; Male ; Methylenetetrahydrofolate Reductase (NADPH2)* ; Mortality ; Plasma ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Risk Factors ; Venous Thrombosis*

PURPOSE: Portal vein thrombosis (PVT) is a rare and life-threatening vascular disorder characterized by obstruction or narrowing of the portal vein. Hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism has been studied in PVT patients with conflicting results. In the present study the association of hyperhomocysteinemia and MTHFR C677T polymorphism with PVT risk was investigated in Iranians. MATERIALS AND METHODS: Our study population consisted of 10 idiopathic PVT patients and 80 healthy control subjects matched for age and sex. MTHFR C677T polymorphism was genotyped by the polymerase chain reaction technique combined with restriction enzyme fragment length polymorphism (PCR-RFLP) technique and plasma total homocysteine (tHcy) levels were determined by enzyme immunoassay method. RESULTS: Mean plasma tHcy levels were significantly higher in PVT patients (20.2±6.8) than control subjects (10.9±4.7) (P=0.001). Moreover, plasma tHcy levels were significantly higher in 677T allele carriers relative to 677C allele carriers in both PVT patients (P=0.01) and control subjects (P=0.03). Neither homozygote nor heterozygote genotypes of MTHFR C677T polymorphism correlated significantly with PVT risk (P>0.05). Moreover, MTHFR C677T polymorphism didn't increase the risk of PVT under dominant (CT+TT vs. CC) or recessive (TT vs. CC+CT) genetic models analyzed (P>0.05). The difference in frequency of minor 677T allele between PVT patients and control subjects was not statistically significant (P>0.05). CONCLUSION: Based on the current study, we suggest that hyperhomocysteinemia constitutes a significant and common risk factor for PVT. Also, MTHFR C677T polymorphism is not a risk factor for PVT but is a contributing factor for elevated plasma tHcy levels.
Alleles ; Genotype ; Heterozygote ; Homocysteine ; Homozygote ; Humans ; Hyperhomocysteinemia* ; Immunoenzyme Techniques ; Methylenetetrahydrofolate Reductase (NADPH2)* ; Models, Genetic ; Plasma ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Portal Vein* ; Risk Factors ; Venous Thrombosis*

The human reproductive system can be affected by occupational exposure to many physical and chemical risk factors. This study was carried out to review the studies conducted on the issue of the pathophysiological effects of occupational physical and chemical risk factors on the reproductive system of females and males. In this systematic review, the databases such as “Google Scholar,” “Pub-Med,” “Scopus,” and “Web of Science” were used. Following the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA 2020), the studies included in our study were published between 2000 and 2021. In order to extract the required data, all sections of the articles were reviewed. Out of 57 articles we reviewed, 34 articles were related to field studies and 23 articles to clinical studies. Among them, 43 studies dealt with the pathophysiological effects of chemical agents, six studies dealt with the pathophysiological effects of physical factors, and 8 studies dealt with the pathophysiological effects of physicochemical factors on the human reproductive system. Physical (noise, heat, and radiofrequency radiation) and chemical (such as carbamate and organophosphate pesticides, benzene, toluene, xylene, formaldehyde, NO2, CS2, manganese, lead, nickel, and n-hexane) risk factors had pathophysiological effects on the human reproductive system. The presence of these risk factors in the workplace caused damage to the human reproductive system. The rate of these negative pathophysiological effects can be reduced by performing appropriate managerial, technical, and engineering measures in work environments.