Association of Single Nucleotide Polymorphism -2548 G/A (rs12112075) of leptin gene with endometrial cancer and uterine leiomyomas

Eur J Obstet Gynecol Reprod Biol. 2017 Nov:218:113-118. doi: 10.1016/j.ejogrb.2017.09.022. Epub 2017 Sep 22.

Abstract

Aim: The aim of this study was to analyse the frequencies of genotypes and alleles of Single Nucleotide Polymorphism (SNP) -2548 G/A (rs12112075) of leptin gene (LEP) and an attempt to evaluate the effect this DNA marker has on endometrial cancer (EC) and uterine leiomyomas (UL).

Material and methods: The study comprised 120 patients treated for endometrial cancer and 90 patients treated for uterine leiomyomas. 90 disease-free individuals were used as controls. In total, 300 patients were investigated in this research.

Results: In this paper we have demonstrated that genotype AG of SNP -2548 G/A of LEP may reduce the risk of developing endometrial cancer, whereas allele A itself may be a risk factor of this malignancy. No association was found between the studied polymorphism and uterine leiomyomas.

Conclusions: -2548 G/A SNP of LEP may play a significant role in the development of EC, however, uterine leiomyomas are not associated with this DNA marker.

Keywords: (rs12112075); -2548 G/A; Endometrial cancer; Leptin; Obesity; Single Nucleotide Polymorphism; Uterine leiomyomas.

MeSH terms

  • Alleles
  • Body Mass Index
  • Case-Control Studies
  • Endometrial Neoplasms / genetics*
  • Endometrial Neoplasms / pathology
  • Female
  • Genetic Markers
  • Genotype
  • Humans
  • Leiomyoma / genetics*
  • Leiomyoma / pathology
  • Leptin / genetics*
  • Middle Aged
  • Obesity / genetics
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Uterine Neoplasms / genetics*
  • Uterine Neoplasms / pathology

Substances

  • Genetic Markers
  • Leptin