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Full text of article
'Butovskaya PR, ESTEBAN ME, AVRAMIDIS N,
LAZEBNY OE, FEDENOK JN, UDINA IG, BUTOVSKAYA ML, ROSA A, 2022: LARGE DIFFERENCES IN THE PROPORTION
OF PEOPLE WITH REDUCED MTHFR
ENZYMATIC ACTIVITY IN EURASIA: ALLELE
AND HAPLOTYPE DISTRIBUTION
OF MTHFR-C677T AND MTHFR-A1298C
POLYMORPHISMS IN SPAIN AND SIBERIA. Anthropologie (Brno) 60, 1: 173-186'. |
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| Abstract | | Adequate levels of folate are crucial for human development. MTHFR (Methylene tetrahydrofolate reductase)
is involved in the metabolism of folic acid and other B vitamins. The aim of this work is to examine the allele frequency
and haplotype distribution of MTHFR-C677T and MTHFR-A1298C polymorphisms in two independent samples (North-
East Spanish and North-Western Siberia). The degree of population differentiation and signatures of positive selection
were also examined in 18 world populations.
The samples comprised 623 Spanish individuals and 172 Ob-Ugric people (Khanty and Mansi).
The Spanish sample showed 44% individuals with 30% reduced enzyme activity, and 16% people with 70% reduced activity;
whereas the Khanty sample revealed only 3% people with 70% reduced activity. In the 18 populations screened, we found
significant South to North clines for SNPs and haplotypes. Overall, we failed to detect any traces of positive selection.
The high frequency of people with reduced MTHFR enzyme activity in Spain highlights the need for diets rich in folate
and folic acid supplementation in some groups. The low frequency of individuals with reduced enzymatic activity among
the Khanty together with their traditional diet indicates a protective combination against pathologies related to folic acid
deficiencies. | | | | Keywords | | MHTFR gene – A1298C (rs1801131) and C677T (rs1801133) – Folic acid – Homocysteine – Positive
selection – Cardiovascular risk | | | | DOI | | https://doi.org/10.26720/anthro.21.05.04.1 | | |
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