Association of eNOS gene 4a/4b VNTR and T786C polymorphism with Crimean-Congo hemorrhagic fever
Umut Safiye Say Coskun1, Serbulent Yigit2, Zeliha Cansel Ozmen3
1Department of Medical Microbiology, Faculty of Medicine, Tokat Gaziosmanpasa University, Tokat, Turkey.
Insights
Genetic variations in the endothelial nitric oxide synthase (eNOS) T786C gene may increase susceptibility to Crimean-Congo hemorrhagic fever (CCHF). This study found significant differences in eNOS T786C allele and genotype frequencies between CCHF patients and healthy controls.
Area of Science:
- Genetics
- Virology
- Molecular Biology
Background:
- Crimean-Congo hemorrhagic fever (CCHF) is a severe viral illness with significant mortality.
- Endothelial nitric oxide synthase (eNOS) gene polymorphisms are implicated in various viral diseases and hemorrhagic conditions.
- Understanding genetic factors influencing CCHF susceptibility is crucial for disease management.
Purpose of the Study:
- To investigate the association between eNOS gene 4a/4b and T786C polymorphisms and CCHF.
- To determine if specific eNOS genotypes or alleles are risk factors for developing CCHF.
Main Methods:
- Genotyping of eNOS 4a/4b and T786C polymorphisms using polymerase chain reaction and restriction fragment length polymorphism.
- Analysis of CCHF virus RNA and DNA isolation from patient samples.
- Statistical comparison of genotype and allele frequencies between 54 CCHF patients and 60 control subjects.
Main Results:
- No statistically significant difference was observed in the frequencies of eNOS 4a/4b genotypes between CCHF patients and controls.
- A statistically significant difference (p < 0.05) was found in the allele and genotype frequencies of the eNOS T786C variant between CCHF patients and the control group.
- The T786C polymorphism showed distinct distribution patterns in CCHF patients compared to controls.
Conclusions:
- The eNOS T786C gene variant may act as a genetic determinant for CCHF susceptibility.
- This is the first study to report a potential link between eNOS T786C polymorphisms and CCHF.
- Further research is warranted to elucidate the precise role of eNOS in CCHF pathogenesis.
Abstract:
The most common viral hemorrhagic fever is Crimean-Congo hemorrhagic fever (CCHF). Endothelial nitric oxide synthase (eNOS) gene polymorphisms have been linked to both hemorrhagic fevers and viral diseases. The study's goal is to evaluate if the eNOS gene 4a/4b and T786C polymorphisms are related to CCHF. The study included 54 CCHF RNA-positive patients and 60 control subjects. The Bosphore CCHF virus Quantification Kit v1 was used to obtain CCHF RNA, and the Magnesia 16 isolation device was used to isolate DNA (Anatolia Gene works, Turkey). Polymerase chain reaction and restriction fragment length polymorphism were used to genotype the samples. The frequency of the eNOS 4a/4a, 4a/4b, and 4 b/4b genotypes in patients and the control was 6.6% versus 1.7%, 37.0% versus 43.3%, and 57.4% versus 55%, respectively. 4a: 24.07% of patients and 23.33% of controls; and 4 b: 75.92% of patients and 76.66% of controls. The frequency of the eNOS-786 T/C, T/T, T/C, and C/C genotypes in patients and the control group was 35.2% versus 68.3%; 51.9% versus 26.73%; and 13.0% versus 5.0%, respectively. The allele and genotype frequencies of the eNOS T786C variant differ statistically between patients and the control (p < 0.05). The eNOS T786C variant could be a genetic determinant for susceptibility to CCHF. To our knowledge, this is the first study to figure out the association between eNOS gene T786C polymorphisms and CCHF disease.
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