Associations of variants in MTHFR and MTRR genes with male infertility in the Jordanian population

• We examined the association between male infertility and MTHFR C677T polymorphism.
• We examined the association between male infertility and MTHFR A1298C polymorphism.
• We examined the association between male infertility and MTRR A66G polymorphism.
• Results showed that MTHFR C677T is associated with male infertility in Jordanians.
• MTHFR A1298C and MTRR A66G are not associated with male infertility in Jordanians.

Folate pathway is expected to play an important role in spermatogenesis since it is involved in DNA synthesis, repair and methylation. The purpose of this study was to examine the association between male infertility and the MTHFR (C677T and A1298C) and MTRR (A66G) polymorphisms. A group of 300 males was recruited in this study from different Jordanian infertility clinics. Of these, 150 cases of infertile men that included oligozoospermia cases (n = 45), severe oligozoospermia (n = 71) and azoospermia (n = 34) were studied. The other 150 males were age matched fertile controls. Genotyping of MTHFR and MTRR polymorphisms was performed using PCR-RFLP technique. The results showed an association between MTHFR 677TT genotype and male infertility (P < 0.05). However, the distribution of MTHFR A1298C and MTRR A66G genotypes were not different between the fertile and infertile groups (P > 0.05). In addition, none of the examined polymorphisms was related to any of the semen parameters in the infertile group. In conclusion, this study showed that MTHFR C677T polymorphism is associated with male infertility in Jordanians.