Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1

Fertil Steril. 2006 Mar;85(3):787-90. doi: 10.1016/j.fertnstert.2005.09.016.

Abstract

Genotyping analysis was performed for Gly146Ala polymorphism in the gene for steroidogenic factor-1 (SF-1), which is known to reduce the transactivation function by approximately 20%, in 72 cryptorchid patients and 136 control males, revealing that the Ala allele, the Ala/Gly genotype, and the Ala/Ala plus Ala/Gly genotype frequencies were significantly higher in the patients than in the control males. The results suggest that the Gly146Ala polymorphism may be a susceptibility factor for the development of cryptorchidism (CO).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Alanine
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Cryptorchidism / genetics*
  • Gene Frequency
  • Genotype
  • Glycine
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant
  • Male
  • Polymorphism, Genetic*
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Steroidogenic Factor 1
  • Transcription Factors / genetics*

Substances

  • Homeodomain Proteins
  • NR5A1 protein, human
  • Receptors, Cytoplasmic and Nuclear
  • Steroidogenic Factor 1
  • Transcription Factors
  • Alanine
  • Glycine