Heterogeneity in world distribution of the thermolabile C677T mutation in 5,10-methylenetetrahydrofolate reductase

Article Abstract:

The prevalence of a mutation in C677T, associated with hyperhomocysteinemia, has been investigated for the major ethnic groups. The prevalence of the T677 allele varied markedly among the different groups and even within groups. Among Europeans, there was a frequency of .448 for Italian subjects and .545 for Spanish subjects. Prevalence ranged from .041-.375 among Asians and 0-.094 among Asians. The mixed populations of Amhara and Oromo from Ethiopia had frequencies between those of Europeans and sub-Saharan Africans.

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Worldwide distribution of a common methylenetetrahydrofolate reductase mutation

Article Abstract:

The C677T mutation affecting methylenetetrahydrofolate reductase (MTHFR) occurs in populations throughout the world. Prevalence is lowest in Africa. The C677T mutation is a missense mutation consisting of a change from C to T at position 677 of the MTHFR cDNA. Risk of cardiovascular disease and neural tube defects may be increased for homozygotes of this mutation. A correlation is found between allele frequencies in populations and the frequency of neural tube defects and myocardial infarction.

Abnormalities, Neural tube, Neural tube defects

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An investigation of human apolipoproteins B and E polymorphisms in two African populations from Ethiopia and Benin

Article Abstract:

The epsilon*4 and epsilon*5 alleles of apolipoprotein E (APOE) occur at a relatively high frequency in some African populations. Epsilon*2, epsilon*3 and epsilon*4 are the most common APOE alleles and epsilon*4 has been linked to cardiovascular disease. The cumulated allele frequencies in Ethiopia and Benin were 0.031 and 0.103, respectively, for the epsilon*2 allele, 0.811 and 0.742 for the epsilon*3 allele, and 0.143 and 0.155 for the epsilon*4 allele.

Health aspects, Apolipoproteins, Africans

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