Journal of Assisted Reproduction and Genetics

, Volume 30, Issue 9, pp 1125–1131 | Cite as

Lack of association of MTHFR rs1801133 polymorphism and CTCFL mutations with sperm methylation errors in infertile patients

  • Cristina Camprubí
  • Marta Pladevall
  • Mark Grossmann
  • Nicolás Garrido
  • Maria C. Pons
  • Joan Blanco



To find out whether the MTHFR rs1801133 polymorphism is a risk factor for male infertility in the Spanish population. To determine if a pattern of sperm DNA hypomethylation at the paternally imprinted loci H19-ICR and/or IG-DMR is related to the MTHFR rs1801133 polymorphism and/or CTCFL mutations.


One hundred and seven samples from individuals who sought consultation for fertility problems and twenty-five semen samples from sperm donors were analyzed. The MTHFR rs1801133 SNP was analyzed in all samples by the PCR-RFLP method. We compared the distribution of the genotypes between control and infertile populations and among the groups of patients with altered seminal parameters. In those patients with the most severe hypomethylation pattern (n = 12) we also analyzed the CTCFL protein-coding exons by sequencing.


There were no significant differences in the distribution of the genotypes among the control and infertile populations. Moreover, none of the genotypes were associated, neither to the characteristics of the seminogram, nor to the presence of sperm DNA hypomethylation. We did not identify frameshift, nonsense or missense mutations of the CTCFL gene.


The MTHFR rs1801133 polymorphism is not associated with male infertility in the Spanish population. Neither the MTHFR polymorphism, nor CTCFL mutations explain a pattern of sperm hypomethylation at paternally imprinting loci.


MTHFR polymorphism CTCFL DNA methylation Male infertility Imprinting errors 



The authors wish to thank Dr. Javier Nadal and the embryologist from the Unidad de Reproducción Asistida of the Centro Médico Teknon (Barcelona, Spain) and the Laboratorio de Andrología y Banco de Semen of the Instituto Universitario IVI Valencia (Valencia, Spain) for providing the semen samples. This work was supported by Projects PS09/00330 (Fondo de Investigación Sanitaria, Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación, Spain) and SGR2009–282 (Agència de Gestió d’Ajuts Universitaris i de Recerca, Generalitat de Catalunya, Spain). Marta Pladevall was the recipient of the grant number UAB2006–00213 from the Universitat Autònoma de Barcelona.

Supplementary material

10815_2013_13_MOESM1_ESM.doc (176 kb)
Supplemental Table 1 Age and spermiogram parameters of the infertile patients. (DOC 175 kb)


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Cristina Camprubí
    • 1
  • Marta Pladevall
    • 1
  • Mark Grossmann
    • 2
  • Nicolás Garrido
    • 3
  • Maria C. Pons
    • 2
  • Joan Blanco
    • 1
  1. 1.Unitat de Biologia Cellular, Facultat de BiociènciesUniversitat Autònoma de BarcelonaCerdanyola del VallèsSpain
  2. 2.Unidad de Reproducción Asistida de Centro Médico TeknonBarcelonaSpain
  3. 3.Laboratorio de Andrología y Banco de SemenInstituto Universitario IVI ValenciaValenciaSpain

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