caa a22 4500 378881388 CHVBK 20180305123432.0 cr unu---uuuuu 161128e20030807xx s 000 0 eng 10.1515/CCLM.2003.158 doi (NATIONALLICENCE)gruyter-10.1515/CCLM.2003.158 Low Frequency of Mutated Methylenetetrahydrofolate Reductase 677 C→T and 1298 A→C Genetics Single Nucleotide Polymorphisms (SNPs) in Sub-Saharan Populations [Elektronische Daten] [Charles E. Adjalla, Emile K. Amouzou, Ambaliou Sanni, Idrissia Abdelmouttaleb, Nicodème W. Chabi, Fares Namour, Batoma Soussou, Jean-Louis Guéant] 5,10-Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MTR) are two of the key enzymes in the folate/vitamin B12-dependent remethylation of homocysteine to methionine. The frequencies of MTHFR single nucleotide polymorphisms (SNPs), 677C→T, 1298A→C, 1317T→C and of MTR, 2756A→G, have been widely studied in Caucasians, but they have never been reported simultaneously in a large population from Sub-Saharan Africa. Presently, we report the prevalence of these SNPs and their relationship to homocysteine in 240 subjects recruited in West Africa. The frequencies of the mutant genotypes 677TT (0.8%) and 1298CC (2%) were lower than that usually observed in Caucasians, while the frequency of the mutant 1317CC was higher (16%). We formed a systematic association of the mutated MTHFR 677C→T SNP with a 1298A/1317T common haplotype. The MTHFR mutant genotype 677TT was associated with an intermediate hyperhomocysteinemia (92.4±6.0 μmol/l) higher than that described in Caucasians. The 2756A→G SNP in the MTR was similarly distributed in Africans compared to Caucasians. In conclusion, the MTHFR 677TT or 1298CC genotypes are much rarer in Africans than in Caucasians. The 677TT low frequency may be related to the high effect of this mutation on homocysteine metabolism in the environmental conditions of this African region. Copyright © 2003 by Walter de Gruyter GmbH & Co. KG Medical equipment & techniques nationallicence Medical diagnosis nationallicence Diseases & disorders nationallicence Adjalla Charles E. aut Amouzou Emile K. aut Sanni Ambaliou aut Abdelmouttaleb Idrissia aut Chabi Nicodème W. aut Namour Fares aut Soussou Batoma aut Guéant Jean-Louis aut Clinical Chemistry and Laboratory Medicine Walter de Gruyter 41/8(2003-08-07), 1028-1032 1434-6621 41:8<1028 2003 41 cclm https://doi.org/10.1515/CCLM.2003.158 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.1515/CCLM.2003.158 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Adjalla Charles E. aut NATIONALLICENCE 700 1- Amouzou Emile K. aut NATIONALLICENCE 700 1- Sanni Ambaliou aut NATIONALLICENCE 700 1- Abdelmouttaleb Idrissia aut NATIONALLICENCE 700 1- Chabi Nicodème W. aut NATIONALLICENCE 700 1- Namour Fares aut NATIONALLICENCE 700 1- Soussou Batoma aut NATIONALLICENCE 700 1- Guéant Jean-Louis aut NATIONALLICENCE 773 0- Clinical Chemistry and Laboratory Medicine Walter de Gruyter 41/8(2003-08-07), 1028-1032 1434-6621 41:8<1028 2003 41 cclm CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter