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Genetic Association of RXFP2 T222P Variant With Cryptorchidism: A Meta-Analytic Study.

Jacek Kabziński1, Jerzy Niedzielski2, Ireneusz Majsterek1

  • 1Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Lodz, Poland.

Andrology
|February 3, 2026
PubMed
Summary

The RXFP2 T222P gene variant may increase cryptorchidism risk, particularly in Italian populations. Further research is needed to confirm this association and understand its underlying mechanisms.

Keywords:
RXFP2T222Pcryptorchidismgenetic riskmeta‐analysis

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Area of Science:

  • Genetics and Reproductive Biology
  • Molecular Genetics
  • Population Genetics

Background:

  • The RXFP2 receptor is crucial for testicular descent, mediating relaxin's action on gubernaculum development.
  • The T222P polymorphism in the RXFP2 gene has been linked to cryptorchidism, but findings are inconsistent across populations.

Purpose of the Study:

  • To conduct a meta-analysis assessing the association between the RXFP2 T222P variant and cryptorchidism risk.
  • To investigate potential effect-modifying factors, such as population structure and control group allele frequencies.

Main Methods:

  • Systematic literature review of five studies using PubMed, Embase, Web of Science, and Scopus.
  • Calculation of allele and genotype frequencies, cumulative odds ratios (ORs), and 95% confidence intervals.
  • Assessment of heterogeneity (I² statistic) and moderator analyses (e.g., Italian cohorts, P allele frequency), alongside sensitivity analyses and quality assessment (Newcastle-Ottawa Scale).

Main Results:

  • A trend towards increased cryptorchidism odds was observed in carriers of the T222P variant.
  • A more pronounced effect was noted in Italian cohorts, suggesting population-specific influences.
  • Moderate heterogeneity (I² ≈ 50%) was present, potentially explained by population differences and control allele frequencies.

Conclusions:

  • The RXFP2 T222P variant shows a potential association with cryptorchidism risk, with population-specific effects.
  • Current evidence is hypothesis-generating; further studies in diverse populations with comprehensive genotyping and functional analysis are required to confirm findings and elucidate mechanisms.