Methylenetetrahydrofolate reductase (MTHFR) C677T mutation in Turkish patients with thrombosis
Recently, the homozygote state for the thermolabile variant of the MTHFR gene (C677T) has been identified as a determinant of elevated homocysteine levels which are known to be a risk factor for arterial and thrombotic vascular disease. To determine whether this variant increases the risk of...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
1999-04-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/3220 |
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| _version_ | 1850028812805341184 |
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| author | G Balta A Gürgey |
| author_facet | G Balta A Gürgey |
| author_sort | G Balta |
| collection | DOAJ |
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Recently, the homozygote state for the thermolabile variant of the MTHFR gene (C677T) has been identified as a determinant of elevated homocysteine levels which are known to be a risk factor for arterial and thrombotic vascular disease. To determine whether this variant increases the risk of thrombosis, we analyzed the prevalence of the C677T substitution in the MTHFR gene in 94 patients with thrombosis and in 95 unmatched controls. Although homozygosity for the mutation was found in 12 (12.8%) of the patients with thrombosis and in only six (6.3%) of the control subjects, the difference in the prevalence of the homozygous mutant genotype between patients and healthy subjects was not statistically significant.
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| format | Article |
| id | doaj-art-c8a7f59d22c6418cad2bac55dee4b945 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 1999-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-c8a7f59d22c6418cad2bac55dee4b9452025-08-20T02:59:42ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64211999-04-01412Methylenetetrahydrofolate reductase (MTHFR) C677T mutation in Turkish patients with thrombosisG Balta0A GürgeyDepartment of Pediatrics, Hacettepe University Faculty of Medicine, Ankara. Recently, the homozygote state for the thermolabile variant of the MTHFR gene (C677T) has been identified as a determinant of elevated homocysteine levels which are known to be a risk factor for arterial and thrombotic vascular disease. To determine whether this variant increases the risk of thrombosis, we analyzed the prevalence of the C677T substitution in the MTHFR gene in 94 patients with thrombosis and in 95 unmatched controls. Although homozygosity for the mutation was found in 12 (12.8%) of the patients with thrombosis and in only six (6.3%) of the control subjects, the difference in the prevalence of the homozygous mutant genotype between patients and healthy subjects was not statistically significant. https://turkjpediatr.org/article/view/3220 |
| spellingShingle | G Balta A Gürgey Methylenetetrahydrofolate reductase (MTHFR) C677T mutation in Turkish patients with thrombosis The Turkish Journal of Pediatrics |
| title | Methylenetetrahydrofolate reductase (MTHFR) C677T mutation in Turkish patients with thrombosis |
| title_full | Methylenetetrahydrofolate reductase (MTHFR) C677T mutation in Turkish patients with thrombosis |
| title_fullStr | Methylenetetrahydrofolate reductase (MTHFR) C677T mutation in Turkish patients with thrombosis |
| title_full_unstemmed | Methylenetetrahydrofolate reductase (MTHFR) C677T mutation in Turkish patients with thrombosis |
| title_short | Methylenetetrahydrofolate reductase (MTHFR) C677T mutation in Turkish patients with thrombosis |
| title_sort | methylenetetrahydrofolate reductase mthfr c677t mutation in turkish patients with thrombosis |
| url | https://turkjpediatr.org/article/view/3220 |
| work_keys_str_mv | AT gbalta methylenetetrahydrofolatereductasemthfrc677tmutationinturkishpatientswiththrombosis AT agurgey methylenetetrahydrofolatereductasemthfrc677tmutationinturkishpatientswiththrombosis |