RT Journal Article
T1 Human genetic selection on the MTHFR 677C>T polymorphism.
A1 Mayor-Olea, Alvaro
A1 Callejón, Gonzalo
A1 Palomares, Arturo R
A1 Jiménez, Ana J
A1 Gaitán, María Jesús
A1 Rodríguez, Alfonso
A1 Ruiz, Maximiliano
A1 Reyes-Engel, Armando
K1 Feto abortado
K1 Frecuencia de los Genes
K1 Genotipo
K1 Metilenotetrahidrofolato reductasa (NADPH2)
K1 Reacción en cadena de la polimerasa
K1 Polimorfismo genético
K1 Selección genética
K1 España
AB BACKGROUNDThe prevalence of genotypes of the 677C>T polymorphism for the MTHFR gene varies among humans. In previous studies, we found changes in the genotypic frequencies of this polymorphism in populations of different ages, suggesting that this could be caused by an increase in the intake of folate and multivitamins by women during the periconceptional period. The aim was to analyze changes in the allelic frequencies of this polymorphism in a Spanish population, including samples from spontaneous abortions (SA).METHODSA total of 1305 subjects born in the 20th century were genotyped for the 677C>T polymorphism using allele specific real-time PCR with Taqman probes. A section of our population (n = 276) born in 1980-1989 was compared with fetal samples (n = 344) from SA of unknown etiology from the same period.RESULTSAn increase in the frequency of the T allele (0.38 vs 0.47; p < 0.001) and of the TT genotype (0.14 vs 0.24; p < 0.001) in subjects born in the last quarter of the century was observed. In the 1980-1989 period, the results show that the frequency of the wild type genotype (CC) is about tenfold lower in the SA samples than in the controls (0.03 vs 0.33; p < 0.001) and that the frequency of the TT genotype increases in the controls (0.19 to 0.27) and in the SA samples (0.20 to 0.33 (p < 0.01)); r = 0.98.CONCLUSIONSelection in favor of the T allele has been detected. This selection could be due to the increased fetal viability in early stages of embryonic development, as is deduced by the increase of mutants in both living and SA populations.
PB BioMed Central
YR 2008
FD 2008-11-28
LK http://hdl.handle.net/10668/1309
UL http://hdl.handle.net/10668/1309
LA en
NO Mayor-Olea A, Callejón G, Palomares AR, Jiménez AJ, Gaitán MJ, Rodríguez A, et al. Human genetic selection on the MTHFR 677C>T polymorphism. BMC Med. Genet. 2008; 9:104
NO Journal Article; Research Support, Non-U.S. Gov't;
DS RISalud
RD Apr 9, 2025