MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 816; N. variants: 57
Disease: Polyendocrinopathies, Autoimmune ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune 		0.020 GeneticVariation group BEFREE The MTHFR-677TT was found in 22.0%, 15.1% and 13.0%, and the PAI-1 (4G/4G) in 27.5%, 22.8% and 23.5% of APS, non-APS patients and normal controls, respectively. 11454529 2001
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune 		0.020 GeneticVariation group BEFREE After genotype sub-grouping, plasma HC was higher in APS patients with homozygous MTHFR C677 <-- T compared with non-homozygous APS patients (22 +/- 5.4 versus 11 +/- 1.3 micromol/l; P < 0.01) and with homozygous MTHFR C677 <-- T controls (22 +/- 5.4 versus 15 +/- 2.0 micromol/l). 11734671 2001