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Methylenetetrahydrofolate reductase C677T mutation and risk of retinal vein thrombosis.

Soltanpour MS, Soheili Z, Shakerizadeh A, Pourfathollah AA, Samiei S, Meshkani R, Shahjahani M, Karimi A - J Res Med Sci (2013)

Bottom Line: Elevated plasma homocysteine (Hcy) level has been established as a significant risk factor for venous thrombosis and cardiovascular disease.The frequency of the 677T allele was 26% and 21.2% in patients and controls, respectively and did not differ significantly between the two groups (odds ratio = 1.3, 95% confidence interval (0.75-2.24), P = 0.33).Fasting plasma total Hcy level was significantly higher in patients than controls (P = 0.001).

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Sciences, School of Paramedical Sciences, Zanjan University of Medical Sciences, Zanjan, Iran.

ABSTRACT

Background: Elevated plasma homocysteine (Hcy) level has been established as a significant risk factor for venous thrombosis and cardiovascular disease. Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T mutation has been associated with elevated plasma Hcy concentration and may contribute to retinal vein thrombosis (RVT) development. The aim of the present study was to investigate whether the hyperhomocysteinemia and/or homozygosity for the MTHFR C677T mutation are associated with an increased risk for RVT.

Materials and methods: Our study population consisted of 73 consecutive patients (50-78 years old) with RVT and 73 control subjects (51-80 years old), matched for age and sex. Genotyping for the MTHFR C677T mutation was performed by polymerase chain reaction-restriction fragment length polymorphism technique and Hcy level was determined by an enzyme immunoassay kit.

Results: The prevalence of 677TT genotype was higher in patients than control subjects, but the difference in frequency didn't reach a significant value (P = 0.07). The frequency of the 677T allele was 26% and 21.2% in patients and controls, respectively and did not differ significantly between the two groups (odds ratio = 1.3, 95% confidence interval (0.75-2.24), P = 0.33). Fasting plasma total Hcy level was significantly higher in patients than controls (P = 0.001).

Conclusion: Our study demonstrated that hyperhomocysteinemia, but not the MTHFR C677T mutation, is associated with RVT.

No MeSH data available.


Related in: MedlinePlus

Polymorphism analysis of methylenetetrahydrofolate reductase C677T. The polymerase chain reaction products were digested by restriction enzyme Hinf I:1 (ladder 100 bp); 2 negative control; 3 positive control for homozygote (TT) genotype; 4 positive control for heterozygote (CT) genotype; 5, 6, 8, 9, 10 CC genotype (198 bp); 7, 12 CT genotype (198 bp, 175 bp); 11 TT genotype (175 bp)
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Figure 1: Polymorphism analysis of methylenetetrahydrofolate reductase C677T. The polymerase chain reaction products were digested by restriction enzyme Hinf I:1 (ladder 100 bp); 2 negative control; 3 positive control for homozygote (TT) genotype; 4 positive control for heterozygote (CT) genotype; 5, 6, 8, 9, 10 CC genotype (198 bp); 7, 12 CT genotype (198 bp, 175 bp); 11 TT genotype (175 bp)

Mentions: The digested products were separated by electrophoresis on a 3% agarose gel and visualized using ethidium bromide. Individuals with the CC (wild-type homozygosity) genotype showed a single band of 198 bp, those with the CT (heterozygosity) genotype showed bands of 198 bp and 175 bp, and those with the TT (mutated homozygosity) genotype showed a single band of 175 bp [Figure 1].


Methylenetetrahydrofolate reductase C677T mutation and risk of retinal vein thrombosis.

Soltanpour MS, Soheili Z, Shakerizadeh A, Pourfathollah AA, Samiei S, Meshkani R, Shahjahani M, Karimi A - J Res Med Sci (2013)

Polymorphism analysis of methylenetetrahydrofolate reductase C677T. The polymerase chain reaction products were digested by restriction enzyme Hinf I:1 (ladder 100 bp); 2 negative control; 3 positive control for homozygote (TT) genotype; 4 positive control for heterozygote (CT) genotype; 5, 6, 8, 9, 10 CC genotype (198 bp); 7, 12 CT genotype (198 bp, 175 bp); 11 TT genotype (175 bp)
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3818618&req=5

Figure 1: Polymorphism analysis of methylenetetrahydrofolate reductase C677T. The polymerase chain reaction products were digested by restriction enzyme Hinf I:1 (ladder 100 bp); 2 negative control; 3 positive control for homozygote (TT) genotype; 4 positive control for heterozygote (CT) genotype; 5, 6, 8, 9, 10 CC genotype (198 bp); 7, 12 CT genotype (198 bp, 175 bp); 11 TT genotype (175 bp)
Mentions: The digested products were separated by electrophoresis on a 3% agarose gel and visualized using ethidium bromide. Individuals with the CC (wild-type homozygosity) genotype showed a single band of 198 bp, those with the CT (heterozygosity) genotype showed bands of 198 bp and 175 bp, and those with the TT (mutated homozygosity) genotype showed a single band of 175 bp [Figure 1].

Bottom Line: Elevated plasma homocysteine (Hcy) level has been established as a significant risk factor for venous thrombosis and cardiovascular disease.The frequency of the 677T allele was 26% and 21.2% in patients and controls, respectively and did not differ significantly between the two groups (odds ratio = 1.3, 95% confidence interval (0.75-2.24), P = 0.33).Fasting plasma total Hcy level was significantly higher in patients than controls (P = 0.001).

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Sciences, School of Paramedical Sciences, Zanjan University of Medical Sciences, Zanjan, Iran.

ABSTRACT

Background: Elevated plasma homocysteine (Hcy) level has been established as a significant risk factor for venous thrombosis and cardiovascular disease. Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T mutation has been associated with elevated plasma Hcy concentration and may contribute to retinal vein thrombosis (RVT) development. The aim of the present study was to investigate whether the hyperhomocysteinemia and/or homozygosity for the MTHFR C677T mutation are associated with an increased risk for RVT.

Materials and methods: Our study population consisted of 73 consecutive patients (50-78 years old) with RVT and 73 control subjects (51-80 years old), matched for age and sex. Genotyping for the MTHFR C677T mutation was performed by polymerase chain reaction-restriction fragment length polymorphism technique and Hcy level was determined by an enzyme immunoassay kit.

Results: The prevalence of 677TT genotype was higher in patients than control subjects, but the difference in frequency didn't reach a significant value (P = 0.07). The frequency of the 677T allele was 26% and 21.2% in patients and controls, respectively and did not differ significantly between the two groups (odds ratio = 1.3, 95% confidence interval (0.75-2.24), P = 0.33). Fasting plasma total Hcy level was significantly higher in patients than controls (P = 0.001).

Conclusion: Our study demonstrated that hyperhomocysteinemia, but not the MTHFR C677T mutation, is associated with RVT.

No MeSH data available.


Related in: MedlinePlus