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The common MTHFR deficiencies are usually asymptomatic, although the 677T variant can cause a mildly increased risk of some diseases. [citation needed]For individuals homozygous in the 677T variant, there is a mildly elevated risk of thromboembolism (odds ratio 1.2), [4] and stroke (odds ratio 1.26). [5]
Methylenetetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. [5] Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine.
C677T or rs1801133 is a genetic variation—a single nucleotide polymorphism (SNP)—in the MTHFR gene. Among Americans the frequency of T-homozygosity ranges from 1% or less among people of sub-Saharan African descent to 20% or more among Italians and Hispanics. [1] It has been related to schizophrenia [2] Alzheimer's disease [3] depression [4 ...
The 66A>G polymorphism is up-regulated in neural tube defects and increases the risk of spina bifida by two-fold. [38] Homozygosis for this mutation is an established maternal risk factor for spina bifida especially with low intracellular vitamin B12 [39] in the circulation or amniotic fluid. [13]
Activated protein C resistance that is not attributable to factor V mutations is probably caused by other factors and remains a risk factor for thrombosis. [16] There is an association between the blood levels of homocysteine and thrombosis, [16] although this has not been reported consistently in all studies. [5]
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
Therefore, hyperhomocysteinemia is a possible risk factor for coronary artery disease. ... This is the opposite of MTHFR C677T mutations, which result in an increase ...
The risk for multifactorial disorders is mainly determined by universal risk factors. Risk factors are divided into three categories; genetic, environmental and complex factors (for example overweight). Genetic risk factors are associated with the permanent changes in the base pair sequence of human genome.