Strong Association of 677 C>T Substitution in the MTHFR Gene with Male Infertility - A Study on an Indian Population and a Meta-Analysis
2011

MTHFR Gene Mutation and Male Infertility in India

Sample size: 837 publication 10 minutes Evidence: high

Author Information

Author(s): Gupta Nishi, Gupta Saraswati, Dama Madhukar, David Archana, Khanna Geeta, Khanna Anil, Rajender Singh

Primary Institution: Central Drug Research Institute, Lucknow, Uttar Pradesh, India

Hypothesis

The study aims to analyze the association of MTHFR gene 677C>T polymorphism with male infertility in an Indian population.

Conclusion

The 677C>T substitution is strongly associated with male infertility in the Indian population.

Supporting Evidence

  • The frequency of the mutant allele was significantly higher in infertile men compared to fertile controls.
  • Meta-analysis of 13 studies confirmed the association of the MTHFR 677C>T polymorphism with male infertility.
  • Statistical analysis showed significant odds ratios for the association between the polymorphism and infertility.

Takeaway

This study found that a specific gene change is linked to infertility in men from India, suggesting it could be a risk factor.

Methodology

The study involved genotyping 837 individuals, including 522 infertile and 315 fertile men, using direct DNA sequencing and statistical analysis with Chi square tests.

Potential Biases

Potential biases may arise from the selection of participants and the exclusion of certain studies in the meta-analysis.

Limitations

The study may not account for all genetic and environmental factors influencing infertility.

Participant Demographics

Participants included 522 infertile men and 315 fertile controls from North India, predominantly of Indo-Aryan ethnicity.

Statistical Information

P-Value

p=0.000

Confidence Interval

1.17–2.13

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pone.0022277

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