C677T polymorphism of the MTHFR gene and variant hemoglobins: a study in newborn s f rom Salvador, Bahia, Brazil

Abstract

The C677T polymorphism in the methylenetet ra h y d rofolate reductase gene (MTHFR) is associated with an increase in total homocysteine serum levels (tHcy), described as a risk factor for cardiovascular disease. Eight hundred fort y - t h ree neonates from two different maternity h o spitals , one public and another priva t e , in Salva d o r, Ba h i a , Brazil were screened for this polymorphism by PCR and RFLP. The T-allele frequency in the total sample was 0.23, and the p re valence rates of heterozygous and homoz ygous carriers were 36.2% and 5.3%, re s p e c t i ve l y. The T-allele frequency differed and the T/T g e n otype was more pre valent at the private maternity hospital. The hemoglobin (Hb) profile was investigated by HPLC in 763 new b o r n s . The frequency of variant Hb was higher at the public than at the private maternity hospital. The association of the C677T polymorphism and the Hb profile was investigated in 683 newborns , showing are latively high frequency of variant Hbs and the T allele. These data could provide an important basis for further studies focusing on potential risks of vaso - occlusive events in these individuals.