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Single nucleotide polymorphisms associated with nonsyndromic cryptorchidism in Mexican patients

M Chávez-Saldaña1, R M Vigueras-Villaseñor1, E Yokoyama-Rebollar2

  • 1Laboratorio de Biología de la Reproducción, Instituto Nacional de Pediatría, Ciudad de México, México.

Andrologia
|March 16, 2017
PubMed

Insights

Genetic variants in INSL3, RXFP2, and HOXA10 genes are linked to cryptorchidism. Some variants increase risk, while others may offer protection, impacting future understanding of this condition.

Area of Science:

  • Genetics and Urology
  • Molecular Biology

Background:

  • Cryptorchidism, a common genitourinary defect, elevates risks for infertility and testicular cancer.
  • The development of cryptorchidism is influenced by multiple factors, including single nucleotide polymorphisms (SNPs) affecting gubernaculum development.

Purpose of the Study:

  • To investigate the association between specific genetic variants and isolated cryptorchidism.
  • To identify potential genetic risk and protective factors for cryptorchidism.

Main Methods:

  • Analysis of 16 single nucleotide polymorphisms (SNPs) using allelic discrimination and automated sequencing.
  • Comparison of genetic profiles between 85 patients with cryptorchidism and 99 healthy controls.

Main Results:

  • Two INSL3 gene variants (rs121912556 and p.R105R) were found in heterozygous form in patients, suggesting a risk association.
  • INSL3 (rs10421916), RXFP2 (rs1555633, rs7325513), and HOXA10 (rs3779456) variants were predominantly in controls, indicating potential protective effects.
  • No statistically significant genotype-phenotype correlation was observed.

Conclusions:

  • Identified genetic polymorphisms in INSL3, RXFP2, and HOXA10 genes are significant in the studied population.
  • These variants contribute to understanding the etiology and pathophysiology of cryptorchidism.
  • Further research into these genetic factors may aid in predicting and managing cryptorchidism risk.
Keywords:
HOXA10INSL3LGR8/GREAT (RXFP2)isolated cryptorchidism

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