Publication:

Hyperhomocysteinemia and MTHFR gene 677 C>T polymorphism: questionable role in female infertility

Background Homocysteine is an intermediate in methionine metabolism required for the biosynthesis of nucleic acids. Hyperhomocysteinemia affects various organ systems and also has been implicated as a risk factor for infertility. Elevated levels result either from genetic mutations of the enzymes catalyzing the metabolic pathway or deficiency of micronutrients required as co-enzymes for the same. The aim of this cohort study was to evaluate serum homocysteine levels and MTHFR gene 677C>T mutation and to establish a possible relation between hyperhomocysteinemia, genetic polymorphism and female infertility.

Methods Ninety-five infertile women were enrolled over a period of one year and categorized as unexplained, anovulatory and male partner factor infertility according to the etiology. Thirty-one age-matched fertile women were enrolled as controls. Serum homocysteine levels were evaluated and genetic analysis for MTHFR gene mutation 677C>T was done.

Results Mean homocysteine levels for the women in three infertile groups were comparable (group I - 16.21 ± 3.39 µmol/l, group II - 16.36 ± 3.56 µmol/l, group III - 16.98 ± 3.14 µmol/l) within the groups as well as with the fertile group (15.85 ± 9.3 µmol/l) with no statistically significant difference (P = 0.573). Prevalence of hyperhomocysteinemia was 86.3% for infertile group and 90.3% for fertile group. Nineteen heterozygous (CT) and 3 homozygous (TT) mutations were noted among infertile subjects and 8 heterozygous (CT) mutations among fertile subjects prevalence being similar for both the groups.

Conclusions Significant prevalence of hyperhomocysteinemia and MTHFR polymorphism was observed in the studied population. The study did not establish a positive role of hyperhomocysteinemia and MTHFR mutation in female infertility.