Case-control Study of methylenetetrahydrofolate reductase mutations and hyperhomocysteinemia and risk of stroke.
PMID 19717029 | DOI 10.1016/j.jstrokecerebrovasdis.2008.12.003 · Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association · 2009 · View on PubMed ↗
The association of factor V-Leiden and methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations with stroke was investigated in 118 patients with stroke and 120 control subjects. MTHFR 677TT (P < .001) and 1298CC (P < .001), but not factor V-Leiden (P = .179), genotypes were associated with stroke. The C677T but not A1298C MTHFR mutation was associated with elevated homocysteine levels in patients and control subjects. In addition to hypertension, the significant predictors for stroke were MTHFR 677CT and TT and A1298CC genotypes, together with hyperhomocysteinemia, indicating a synergistic effect of MTHFR mutations with elevated homocysteine and other risk factors in pathogenesis of stroke.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MTHFR | “The association of factor V-Leiden and methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations with stroke was investigated in 118 patients with stroke and 120 control subjects.” | 0.98 | hgnc_dict_v1 |
| phenotype | stroke | “Case-control Study of methylenetetrahydrofolate reductase mutations and hyperhomocysteinemia and risk of stroke.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hypertension | “In addition to hypertension, the significant predictors for stroke were MTHFR 677CT and TT and A1298CC genotypes, together with hyperhomocysteinemia, indicating a synergistic effect of MTHFR mutations with elevated homocysteine and other risk factors in pathogenesis of stroke.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | C677T | “The association of factor V-Leiden and methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations with stroke was investigated in 118 patients with stroke and 120 control subjects.” | 0.82 | literature_variant_regex_v2 |
| variant | A1298C | “The association of factor V-Leiden and methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations with stroke was investigated in 118 patients with stroke and 120 control subjects.” | 0.82 | literature_variant_regex_v2 |