Molecular Human Reproduction, Vol. 8, No. 10, 952-957,
October 2002
© 2002 European Society of Human Reproduction and Embryology
Reproductive genetics |
Implications on human fertility of the 677C
T and 1298AC polymorphisms of the MTHFR gene: consequences of a possible genetic selection
1 Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Malaga C.P.29071, 2 Department of Obstetrics and Gynaecology, Clinical University Hospital Lozano Blesa, Zaragoza, 3 Department of Obstetrics and Gynaecology, Clinical University Hospital Carlos Haya, Malaga, Spain and 4 Folkhälsan Institute of Genetics, University of Helsinki, Finland
Mutant alleles with the 677C
T and 1298AC polymorphisms of the MTHFR gene, and consequent lower methylentetrahydrofolate reductase enzyme activity, have been related to higher plasma homocysteine levels, which are associated with cardiovascular diseases. We assessed the genotype frequencies, degrees of fertility and homocysteine levels, and discuss a possible genetic selection for the gene polymorphisms studied. A total of 1777 subjects (897 women and 880 men), divided into four age groups, were genotyped by PCR and restriction fragment length polymorphism. The total homocysteine concentration in plasma was determined by fluorescence polarization immunoassay. Based on random pairs and linkage disequilibrium of the two polymorphisms, we estimated the rate of fetal non-viability according to the combinations of these two polymorphisms to be 4.63% for the group >24 years old and 6.31% for the group <24 years old. We detected an increased frequency of mutant alleles in the youngest age group, coincident with a generally increased folate intake by pregnant women in Spain. The genetic selection detected leads to an increase in mutated individuals, the number of whom could increase four-fold over the next 75 years. Although generally reduced in the younger age groups, the homocysteine plasma levels were shown to increase in individuals according to the number of mutations, especially those of the 677T allele.
fertility/fetal viability/genetic selection/homocysteine levels/MTHFR gene polymorphisms
5 To whom correspondence should be addressed. E-mail: engel{at}uma.es
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