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MTHFR C677T polymorphism associates with unexplained infertile male factors

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Abstract

Purpose : To determine whether 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) genotype is associated with male infertility.

Methods : Analysis of cytogenetic, Y chromosomal microdeletion assay (Yq), and the C677T and A1298C polymorphisms of the MTHFR gene by pyrosequencing and PCR-Restriction Fragment Length Polymorphism (RFLP) method. SAS 8.1 assessed the statistical risk of MTHFR genotype.

Results : The homozygous (T/T) C677T polymorphism of the MTHFR gene was present at a statistically high significance in unexplained infertile men with normal karyotype, instead at no significance in explained infertile men with chromosomal abnormality or Y chromosome deletion. There was no statistically significance of A1298C variation in infertile males.

Conclusions : The MTHFR 677TT genotype may be a genetic risk factor for male infertility, especially with severe OAT and non-obstructive azoospermia in unexplained infertile males.

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Authors and Affiliations

  1. Functional Genomics Lab, Graduate School of Life Science and Biotechnology, CHA Research Institute, College of Medicine, Pochon CHA University, Bundang Campus, Seoul, Korea

    Jung Hoon Park, Han Chul Lee, Yu-Mi Jeong & Suman Lee Ph.D.

  2. Department of Urology, CHA General Hospital, College of Medicine, Pochon CHA University, Seoul, Korea

    Tae-Gyu Chung & Hyun-Joo Kim

  3. CHA General Hospital, College of Medicine, Pochon CHA University, Seoul, Korea

    Nam Keun Kim & Sook-Hwan Lee

  4. Functional Genomics Lab, College of Medicine, Pochon CHA University, Bundang Campus, 222 Yatap-Dong, Bundang-Gu, Sungnam-Si, Kyunggi-Do, 463-836, Korea

    Suman Lee Ph.D.

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  1. Jung Hoon Park
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Park, J.H., Lee, H.C., Jeong, YM. et al. MTHFR C677T polymorphism associates with unexplained infertile male factors. J Assist Reprod Genet 22, 361–368 (2005). https://doi.org/10.1007/s10815-005-6795-0

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  • DOI: https://doi.org/10.1007/s10815-005-6795-0

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